Factor X Variant Database

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Full List of Variants: 180 unique variants retrieved (displaying 50 entries per page). Scroll down to navigate to the next page(s).

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Terms with a '*' next to them are explained on the Help Page .

c.33T>G

p.Ser11Arg (Legacy AA No. -30)

Mutation Type:

Point

Domain:

Pre-pro leader

Location:

Exon 1

Mutation Effect:

Missense

Codon Change:

T>G

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Yin, Wang and Wang 2001; Wang et al 2005
Variant prevents translocation of FX to ER and the subsequent PTM (FX Shanghai). Legacy cDNA numbering in Wang paper - Leytus et al 1986 (c.58T>G)

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:Ag(%)	Inheritance	Severity	Comments	Reference
20	52	M	Chinese	2.6	8.2	Homozygous	Severe	Bleeding after trauma. Related to pa_id: 21,22 & 23.	Wang et al 2005
21		F	Chinese	49.9	53.4	Heterozygous	Asymptomatic	Asymptomatic. Related to pa_id 20, 22 & 23.	Wang et al 2005
22		M	Chinese	71.2	75.8	Heterozygous	Asymptomatic	Asymptomatic. Related to pa_id: 20, 21 & 23.	Wang et al 2005
23		M	Chinese	69.8	72	Heterozygous	Asymptomatic	Asymptomatic. Related to pa_id: 20, 21 & 22.	Wang et al 2005

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.44C>A

p.Ala15Asp (Legacy AA No. -26)

Mutation Type:

Point

Domain:

Pre-pro leader

Location:

Exon 1

Mutation Effect:

Missense

Codon Change:

C>A

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

247586

Allele Frequency *:

0.000004

References and Comments:

Mota et al 2010; Borhany et al 2018
Variant likely damages protein function.

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
10	9	F	Indian	<1	<1	Heterozygous	Undefined cDNA (G299=) (p.Gly299=)	Mild	Echymosis, gum bleeds.	Mota et al 2010
30	4	F	Pakistani	<2		Homozygous		Severe	Umbilical cord bleed, hemarthrosis.	Borhany et al 2018
7	12	M	Indian	<1	<1	Homozygous	Undefined cDNA (G299=) (p.Gly299=)	Severe	Hemarthrosis.	Mota et al 2010
8	7	M	Indian	<1	<1	Homozygous	Undefined cDNA (G299=) (p.Gly299=)	Severe	Hemarthrosis.	Mota et al 2010

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.61G>A

p.Gly21Arg (Legacy AA No. -20)

Mutation Type:

Point

Domain:

Pre-pro leader

Location:

Exon 1

Mutation Effect:

Missense

Codon Change:

G>A

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

246354

Allele Frequency *:

0.000049

References and Comments:

Watzke et al 1991; Millar et al 2000; Othman et al 2019
Variant interferes with FX cleavage by signal peptidase, impairing FX secretion (FX Santo Domingo).

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:C (IU/dl)	FX:Ag(%)	FX:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
127	22	M	Spanish		<1		1	Heterozygous	c.736T>C (p.Cys246Arg)	Severe	Spontaneous/ hemorrhagic bleeding.	Mitchell et al 2019
128	58	F	Spanish		<1		5	Homozygous		Severe	Spontaneous/ hemorrhagic bleeding.	Mitchell et al 2019
13	25	M	Indian	<1				Homozygous		Severe	Hemetemesis, CNS bleed, hemarthrosis.	Mota et al 2010
130	40	F	American		<1		3	Homozygous		Severe	Spontaneous/ hemorrhagic bleeding.	Mitchell et al 2019
138	14	F	German		3		8	Homozygous		Moderate	Spontaneous/ hemorrhagic bleeding.	Mitchell et al 2019
154			Iranian	<1		4		Homozygous		Severe	Gum bleeding, hemarthroses, hematomas. Related to pa_id: 155-159.	Karimi et al 2008
155		F	Iranian	<1		5		Homozygous		Severe	Gum bleeding, hemarthroses, hematomas. Related to pa_id: 154, 156-159.	Karimi et al 2008
156		M	Iranian	23		43		Heterozygous		Not Reported	Gum bleeding, epistaxis, post-trauma hemarthroses, hematomas, bleeding post dental extraction and circumcision. Related to pa_id: 154, 155, 157, 158 & 159.	Karimi et al 2008
157		M	Iranian	<1		2		Homozygous		Severe	Epistaxis, hematuria, hemarthroses, bleeding post dental extraction and cicumcision. Related to pa_id: 154, 155, 156, 158 & 159.	Karimi et al 2008
158		F	Iranian	46		44		Heterozygous		Not Reported	Post dental extraction bleeding. Related to pa_id: 154, 155 & 156.	Karimi et al 2008
159		M	Iranian	64		48		Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 154, 155 & 156.	Karimi et al 2008
160		F	Iranian	<1		<1		Homozygous		Severe	Gum bleeding, epistaxis, ecchymoses, menorrhagia. Related to pa_id: 161.	Karimi et al 2008
161		F	Iranian	42		36		Heterozygous		Not Reported	Asymptomatic. Related to pa_id: 160.	Karimi et al 2008
427	38	M	Spanish	1				Homozygous		Moderate	Cardiac tamponade. Dyspnea on exertion and orthopnea. Epistaxis. Prolonged bleeding following appendectomy.	Othman et al 2019
67				2		3		Homozygous		Not Reported	Significant hemorrhagic symptoms. Related to pa_id: 68 & 69.	Millar et al 2000
68				1				Homozygous		Not Reported	Related to pa_id: 67 & 69.	Millar et al 2000
69				1				Homozygous		Not Reported	Related to pa_id: 67 & 68.	Millar et al 2000
72	16	F	Dominican	<1		5		Homozygous		Severe	Heavy menstrual bleeding. Related to pa_id: 73 & 74.	Watzke et al 1991
73		M	Dominican	38		50		Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 72.	Watzke et al 1991
74		F	Dominican	29		50		Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 72.	Watzke et al 1991
90	23	F	Iranian	0.7				-		Severe	Menorrhagia, hemarthrosis, hematoma.	Karimi et al 2012

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.70+4A>G

Mutation Type:

Point

Domain:

Splice Site

Location:

Mutation Effect:

Splice site

Codon Change:

A>G

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

245538

Allele Frequency *:

0.000012

References and Comments:

Mitchell et al 2019
Variant weakens existing donor splice site and generates a new one.

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:C (IU/dl)	FX:Ag(%)	FX:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
129	20	M	Spanish		<1		15	Heterozygous	c.170G>T (p.Cys57Phe)	Severe	Spontaneous/ hemorrhagic bleeding.	Mitchell et al 2019

Structural Interpretation:

Structural analysis cannot be performed on this (Point | Splice site) variant.

c.70+2T>G

Mutation Type:

Point

Domain:

Splice Site

Location:

Mutation Effect:

Splice site

Codon Change:

T>G

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Mitchell et al 2019
Variant abolishes donor/acceptor splice site.

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:C (IU/dl)	FX:Ag(%)	FX:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
146	3	M	British		<1			Heterozygous	c.257-1G>C ( )	Severe	History of severe bleeding.	Mitchell et al 2019

Structural Interpretation:

Structural analysis cannot be performed on this (Point | Splice site) variant.

c.71-1G>C

Mutation Type:

Point

Domain:

Splice Site

Location:

Mutation Effect:

Splice site

Codon Change:

G>C

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

251462

Allele Frequency *:

0.000008

References and Comments:

Mitchell et al 2019

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:C (IU/dl)	FX:Ag(%)	FX:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
139	59	M	British		6		55	Heterozygous	c.955T>C (p.Tyr319His)	Mild	History of unusual bleeding.	Mitchell et al 2019

Structural Interpretation:

Structural analysis cannot be performed on this (Point | Splice site) variant.

c.90G>C

p.Gln30His (Legacy AA No. -11)

Mutation Type:

Point

Domain:

Intronic Region

Location:

Mutation Effect:

Missense

Codon Change:

G>C

No. of Patients Reported:

Phenotype:

None

Allele Count *:

1147

Allele Number *:

282874

Allele Frequency *:

0.004055

References and Comments:

Cargill et al 1999
Polymorphism.

Patient Information: Show

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.116C>T

p.Thr39Met (Legacy AA No. -2)

Mutation Type:

Point

Domain:

Pre-pro leader

Location:

Exon 2

Mutation Effect:

Missense

Codon Change:

C>T

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Millar et al 2000

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:C (IU/dl)	FX:Ag(%)	FX:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
55				12		26		Heterozygous	c.452G>A (p.Cys151Tyr)c.-40C>T ( )	Asymptomatic	Asymptomatic.	Millar et al 2000

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.119G>C

p.Arg40Thr (Legacy AA No. -1)

Mutation Type:

Point

Domain:

Pre-pro leader

Location:

Exon 2

Mutation Effect:

Missense

Codon Change:

G>C

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Peyvandi et al 2002; Karimi et al 2012
Variant interferes with FX cleavage by signal peptidase, resulting in production of dysfunctional FX

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:Ag(%)	Inheritance	Severity	Comments	Reference
76	22	F	Iranian	<1	66	Homozygous	Severe	Hemarthrosis, hematomas, umbilical cord bleeding. Related to pa_id: 77.	Peyvandi et al 2002
77	7	F	Iranian	<1	43	Homozygous	Severe	Hemarthrosis, hematomas, umbilical cord bleeding. Related to pa_id: 76.	Peyvandi et al 2002
78	28	M	Iranian	3	59	Homozygous	Severe	Hemarthrosis, hematomas, umbilical cord bleeding.	Peyvandi et al 2002
79	5	F	Iranian	7	57	Homozygous	Severe	Hemarthrosis, hematomas, umbilical cord bleeding.	Peyvandi et al 2002
95	6	F	Iranian	0.8		-	Severe	Epistaxis, gum bleeding.	Karimi et al 2012
96	11	F	Iranian	0.7		-	Severe	Epistaxis, hematuria, gum bleeding, intracranial hemorrhage.	Karimi et al 2012

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.128C>G

p.Ser43Cys (Legacy AA No. 3)

Mutation Type:

Point

Domain:

Gla domain

Location:

Exon 2

Mutation Effect:

Missense

Codon Change:

C>G

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Menegatti et al 2004

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:Ag(%)	Inheritance	Severity	Comments	Reference
100	38	M	Iranian	10	42	Homozygous	Not Reported	Severe bleeding symptoms (muscle hematomas, gastrointestinal hemorrhages). Mild FX deficiency and severe FVII deficiency. Related to pa_id:101, 102 &103.	Menegatti et al 2004
101	24	F	Iranian	19	54	Homozygous	Not Reported	Severe bleeding symptoms (epistaxis and menorrhagia). Mild FX deficiency and severe FVII deficiency. Related to pa_id: 100, 102 & 103.	Menegatti et al 2004
102		M	Iranian	75	83	Heterozygous	Not Reported	Related to pa_id: 100 & 101.	Menegatti et al 2004
103		F	Iranian	56	67	Heterozygous	Not Reported	Related to pa_id: 100 & 101.	Menegatti et al 2004

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.139delG

Mutation Type:

Deletion

Domain:

Gla domain

Location:

Exon 2

Mutation Effect:

Frameshift

Codon Change:

delG

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Corsini et al 2015
Frameshift mutation results in premature stop codon at residue 47. Truncated protein product is non-functional.

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:C (IU/dl)	FX:Ag(%)	FX:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
222	38	M		<5				Heterozygous	c.517G>T (p.Gly173Trp)	Severe	Petechiae at birth, subcutaneous hematoma, mild hematuria.	Corsini et al 2015

Structural Interpretation:

Structural analysis cannot be performed on this (Deletion | Frameshift) variant.

c.140A>G

p.Glu47Gly (Legacy AA No. 7)

Mutation Type:

Point

Domain:

Gla domain

Location:

Exon 2

Mutation Effect:

Missense

Codon Change:

A>G

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

251494

Allele Frequency *:

0.000008

References and Comments:

Rudolph et al 1996
Variant has no effect on FX synthesis or secretion but disrupts Gla domain interactions(FX St Louis II). Legacy cDNA numbering in paper - unknown origin (c.1200A>G)

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:C (IU/dl)	FX:Ag(%)	FX:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
352		M			3		25	Heterozygous	c.1187T>G (p.Phe396Cys)	Asymptomatic	No history of bleeding. Related to pa_id: 353 & 354.	Deam et al 2004
353		F			50		50	Heterozygous		Asymptomatic	No history of bleeding. Related to pa_id: 352.	Deam et al 2004

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.151G>A

p.Gly51Arg (Legacy AA No. 11)

Mutation Type:

Point

Domain:

Gla domain

Location:

Exon 2

Mutation Effect:

Missense

Codon Change:

G>A

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Karimi et al 2012

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:C (IU/dl)	FX:Ag(%)	FX:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
97	20	M	Iranian	0.8				-		Severe	Hemarthrosis, gum bleeding, intracranial hemorrhage.	Karimi et al 2012

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.152G>T

p.Gly51Val (Legacy AA No. 11)

Mutation Type:

Point

Domain:

Gla domain

Location:

Exon 2

Mutation Effect:

Missense

Codon Change:

G>T

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Chafa et al 2009
Variant affects FX activation by FVIIa/TF and FIXa/FVIIIa. Legacy cDNA numbering in paper - unknown origin (c.209G>T)

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	FX:C(%)	FX:Ag(%)	Inheritance	Severity	Comments	Reference
104	10	F	<1	75	Homozygous	Severe	Umbilical cord bleeding, possible undiagnosed cerebral hemorrhage (paraplegia), epistaxis, bleeding upon tooth loss. Related to pa_id: 105 & 106.	Chafa et al 2009
105		F	66	85	Heterozygous	Asymptomatic	Asymptomatic. Related to pa_id: 104.	Chafa et al 2009
106		M	57		Heterozygous	Asymptomatic	Asymptomatic. Related to pa_id: 104.	Chafa et al 2009

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.160G>A

p.Glu54Lys (Legacy AA No. 14)

Mutation Type:

Point

Domain:

Gla domain

Location:

Exon 2

Mutation Effect:

Missense

Codon Change:

G>A

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Watzke et al 1990; Millar et al 2000; van Dievoet et al 2019
Variant interferes with FX activation by FVIIa/TF and FIXa/FVIIIa (FX Vorarlberg).

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
107		M	Austrian			Homozygous	c.424G>A (p.Glu142Lys)	Not Reported	Mild bruising but no apparent bleeding tendency. Related to pa_id: 108-114.	Watzke et al 1990
108		M	Austrian			Homozygous	c.424G>A (p.Glu142Lys)	Not Reported	Related to pa_id: 107, 109-114.	Watzke et al 1990
109		F	Austrian			Homozygous	c.424G>A (p.Glu142Lys)	Not Reported	Related to pa_id: 107, 108, 110-114.	Watzke et al 1990
110		M	Austrian			Heterozygous	c.424G>A (p.Glu142Lys)	Not Reported	Related to pa_id: 107, 108, 109, 111-114.	Watzke et al 1990
111		M	Austrian			Heterozygous	c.424G>A (p.Glu142Lys)	Not Reported	Related to pa_id: 107-110, 112, 113 & 114.	Watzke et al 1990
112		F	Austrian			Heterozygous	c.424G>A (p.Glu142Lys)	Not Reported	Related to pa_id: 107-111, 113 & 114.	Watzke et al 1990
113		F	Austrian			Heterozygous	c.424G>A (p.Glu142Lys)	Not Reported	Related to pa_id: 107-112 & 114.	Watzke et al 1990
114		F	Austrian			Heterozygous	c.424G>A (p.Glu142Lys)	Not Reported	Related to pa_id: 107-113.	Watzke et al 1990
115	28	F	African			Homozygous		Not Reported	No bleeding history (but minor gum bleeding and vaginal bleeding during late stages of pregancy). Related to pa_id: 116 & 117.	Van Dievoet et al 2019
116		F	African			-		Asymptomatic	No bleeding history. Related to pa_id: 115 & 117.	Van Dievoet et al 2019
117		F	African			-		Not Reported	Heavy blood loss at menarche. Related to pa_id: 115 & 116.	Van Dievoet et al 2019
50				0.8	40	Homozygous		Asymptomatic	Asymptomatic. Related to pa_id: 51, 52, 53 & 54.	Millar et al 2000
51		M		42	62	Heterozygous		Asymptomatic	Related to pa_id: 50, 52, 53 & 54.	Millar et al 2000
52				35	42	Heterozygous		Asymptomatic	Related to pa_id: 50, 51, 53 & 54.	Millar et al 2000
53				0.7	37	Homozygous		Asymptomatic	Related to pa_id: 50, 51, 52 & 54.	Millar et al 2000
54				2		Homozygous		Asymptomatic	Related to pa_id: 50, 51, 52 & 53.	Millar et al 2000

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.161A>G

p.Glu54Gly (Legacy AA No. 14)

Mutation Type:

Point

Domain:

Gla domain

Location:

Exon 2

Mutation Effect:

Missense

Codon Change:

A>G

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

251490

Allele Frequency *:

0.000008

References and Comments:

Kim, Thompson and James 1995; Herrmann et al 2006
Variant alters FX binding affinity for Ca2+ and disrupts standard light chain interactions (FX Ketchican).

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:C (IU/dl)	FX:Ag(%)	FX:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
118		M		5		20		Homozygous		Mild	Life-long bleeding tendency.	Kim, Thompson & James 1995

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.162_165delAAGA

p.Glu54GlufsX59-

Mutation Type:

Deletion

Domain:

Gla domain

Location:

Exon 2

Mutation Effect:

Frameshift

Codon Change:

delAAGA

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Tan et al 2012; Rath et al 2015

Patient Information: Show

Patient_ID	Gender	Race	FX:C(%)	FX:C (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
211		Caucasian	<1		Heterozygous	Undefined cDNA - deletion (Exons 1-6) ( )	Not Reported	Combined FX and FVII deficiency. Severe periumbilical bleeding and cutaneous post-natal bruises.	Rath et al 2015
416		Caucasian	<1	<1	Heterozygous		Severe	Major bleeding (periumbilical bleeding, cutaneous bruising and oropharyngeal bleeding). Related to pa_id: 417 & 418.	Tan et al 2012
418	M	Caucasian		73	Heterozygous		Not Reported	No bleeding history. Related to pa_id: 416.	Tan et al 2012

Structural Interpretation:

Structural analysis cannot be performed on this (Deletion | Frameshift) variant.

c.166G>A

p.Glu56Lys (Legacy AA No. 16)

Mutation Type:

Point

Domain:

Gla domain

Location:

Exon 2

Mutation Effect:

Missense

Codon Change:

G>A

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

251490

Allele Frequency *:

0.000008

References and Comments:

Ingerslev et al 2007

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C (IU/dl)	FX:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
119	11	M	Caucasian	<1	66	Heterozygous	c.1012G>A (p.Val338Met)	Severe	Hemarthrosis of knee joint. Related to pa_id: 120, 121 & 122.	Ingerslev et al 2007
120	8	F	Caucasian	<1	37	Heterozygous	c.1012G>A (p.Val338Met)	Severe	Risk of intracranial bleeding during birth. Mucosal and joint bleeds. Related to pa_id: 119, 121 & 122.	Ingerslev et al 2007
122		M	Caucasian	45	47	-		Asymptomatic	Asymptomatic. Related to pa_id: 119 & 120.	Ingerslev et al 2007

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.169T>C

p.Cys57Arg (Legacy AA No. 17)

Mutation Type:

Point

Domain:

Gla domain

Location:

Exon 2

Mutation Effect:

Missense

Codon Change:

T>C

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Borhany et al 2018
Variant disrupts disulfide bond formation (Cys57-Cys62), disrupting FX structure.

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:C (IU/dl)	FX:Ag(%)	FX:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
31	3	F	Pakistani	<2				Heterozygous	c.1258G>A (p.Gly420Arg)	Severe	Umbilical cord bleed, hemarthrosis, intracranial hemorrhage, hemoptysis.	Borhany et al 2018

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.170G>T

p.Cys57Phe (Legacy AA No. 17)

Mutation Type:

Point

Domain:

Gla domain

Location:

Exon 2

Mutation Effect:

Missense

Codon Change:

G>T

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Mitchell et al 2019
Variant disrupts disulfide bond formation (Cys57-Cys62), disrupting FX structure.

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:C (IU/dl)	FX:Ag(%)	FX:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
129	20	M	Spanish		<1		15	Heterozygous	c.70+4A>G ( )	Severe	Spontaneous/ hemorrhagic bleeding.	Mitchell et al 2019

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.176A>C

p.Glu59Ala (Legacy AA No. 19)

Mutation Type:

Point

Domain:

Gla domain

Location:

Exon 2

Mutation Effect:

Missense

Codon Change:

A>C

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

282886

Allele Frequency *:

0.000007

References and Comments:

Pinotti et al 2002
Variant interferes with FX activation (particularly extrinsic) and affects FX secretion and stability. Legacy cDNA numbering in paper - Leytus et al 1986 (c.201A>C)

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:Ag(%)	Inheritance	Severity	Comments	Reference
150	50	F	Italian	17	Homozygous	Not Reported	Moderate hemorrhage after labour, metrorrhagia episodes. Related to pa_id: 151, 152 & 153.	Pinotti et al 2002
151		F	Italian		Heterozygous	Asymptomatic	Asymptomatic. Related to pa_id: 150, 152 & 153.	Pinotti et al 2002
152		F	Italian		Heterozygous	Asymptomatic	Asymptomatic. Related to pa_id: 150, 151 & 153.	Pinotti et al 2002
153		F	Italian		Heterozygous	Asymptomatic	Asymptomatic. Related to pa_id: 150, 151 & 152.	Pinotti et al 2002

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.193G>A

p.Glu65Lys (Legacy AA No. 25)

Mutation Type:

Point

Domain:

Gla domain

Location:

Exon 2

Mutation Effect:

Missense

Codon Change:

G>A

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Nöbauer-Huhmann et al 1998
(FX Frankfurt I).

Patient Information: Show

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.198G>C

p.Glu66Asp (Legacy AA No. 26)

Mutation Type:

Point

Domain:

Gla domain

Location:

Exon 2

Mutation Effect:

Missense

Codon Change:

G>C

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Wallmark et al 1991

Patient Information: Show

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.205G>A

p.Glu69Lys (Legacy AA No. 29)

Mutation Type:

Point

Domain:

Gla domain

Location:

Exon 2

Mutation Effect:

Missense

Codon Change:

G>A

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Karimi et al 2008; Karimi et al 2012
Variant primarily affects FX activity in the prothrombinase complex but also interferes with FX secretion.

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:Ag(%)	Inheritance	Severity	Comments	Reference
162			Iranian	<1	19	Homozygous	Severe	Gum bleeding, hemarthroses, hematomas, epistaxis, CNS bleeding, umbilical cord bleeding. Related to pa_id: 163 & 164.	Karimi et al 2008
163		M	Iranian	65	52	Heterozygous	Asymptomatic	Asymptomatic. Related to pa_id: 162.	Karimi et al 2008
164		F	Iranian	54	52	Heterozygous	Asymptomatic	Asymptomatic. Related to pa_id: 162.	Karimi et al 2008
98	10	M	Iranian	0.4		-	Severe	Hemarthrosis, epistaxis, gum bleeding, intracranial hemorrhage.	Karimi et al 2012

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.212T>C

p.Phe71Ser (Legacy AA No. 31)

Mutation Type:

Point

Domain:

Gla domain

Location:

Exon 2

Mutation Effect:

Missense

Codon Change:

T>C

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

251428

Allele Frequency *:

0.000004

References and Comments:

Au et al 2004; Jayandharan et al 2005; Akhavan et al 2007
Variant likely induces conformational change and destabilizes FX protein. Legacy cDNA numbering in Au paper - Leytus et al 1986 (c.237T>C)

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:C (IU/dl)	FX:Ag(%)	FX:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
123	35	M	British		<1		9	Homozygous		Severe	Spontaneous/ hemorrhagic bleeding.	Mitchell et al 2019
178	15	M	Algerian	8		18		Homozygous		Severe	Severe bleeding (spontaneous and/or life-threatening).	Akhavan et al 2007
179	7	M	Algerian	<1		7		Homozygous		Severe	Severe bleeding (spontaneous and/or life-threatening). Related to pa_id: 180.	Akhavan et al 2007
180	4	F	Algerian	<1		14		Homozygous		Severe	Infant died at 4yrs due to intracranial hemorrhange. Related to pa_id: 179.	Akhavan et al 2007
181	19	F	Algerian	<1		7		Homozygous		Severe	Severe bleeding (spontaneous and/or life-threatening). Related to pa_id: 182.	Akhavan et al 2007
182	20	M	Algerian	<1		4		Homozygous		Severe	Severe bleeding (spontaneous and/or life-threatening). Relatde to pa_id: 181	Akhavan et al 2007
183	24	F	Algerian	<1		15		Homozygous		Severe	Severe bleeding (spontaneous and/or life-threatening). Related to pa_id: 184.	Akhavan et al 2007
184	20	M	Algerian	<1		16		Homozygous		Severe	Severe bleeding (spontaneous and/or life-threatening). Related to pa_id: 183.	Akhavan et al 2007
185	59	M	Algerian	<1		2		Heterozygous	Undefined cDNA (Y170) (p.Tyr170)	Severe	Severe bleeding (spontaneous and/or life-threatening).	Akhavan et al 2007

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.214G>C

p.Glu72Gln (Legacy AA No. 32)

Mutation Type:

Point

Domain:

Gla domain

Location:

Exon 2

Mutation Effect:

Missense

Codon Change:

G>C

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Zama et al 1999
Variant prevents completion of standard FX carboxylation, disrupting FX processing, potentially destabilizing the FX mRNA or protein product(FX Tokyo).

Patient Information: Show

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.257-1G>C

Mutation Type:

Point

Domain:

Splice Site

Location:

Mutation Effect:

Splice site

Codon Change:

G>C

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

251060

Allele Frequency *:

0.000008

References and Comments:

Mitchell et al 2019
Variant abolishes donor/acceptor splice site.

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:C (IU/dl)	FX:Ag(%)	FX:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
146	3	M	British		<1			Heterozygous	c.70+2T>G ( )	Severe	History of severe bleeding.	Mitchell et al 2019

Structural Interpretation:

Structural analysis cannot be performed on this (Point | Splice site) variant.

c.268T>C

p.Cys90Arg (Legacy AA No. 50)

Mutation Type:

Point

Domain:

EGF-1

Location:

Exon 4

Mutation Effect:

Missense

Codon Change:

T>C

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Mitchell et al 2019
Variant disrupts disulfide bond formation, disrupting FX structure.

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:C (IU/dl)	FX:Ag(%)	FX:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
140	55	M	American		8		48	Heterozygous	c.1247A>T (p.Gln416Leu)	Mild	History of unusual bleeding.	Mitchell et al 2019

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.290A>C

p.Asn97Thr (Legacy AA No. 57)

Mutation Type:

Point

Domain:

EGF-1

Location:

Exon 4

Mutation Effect:

Missense

Codon Change:

A>C

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Kim et al 1995
(FX Wenatchee II). Legacy cDNA numbering in paper - unknown origin (c.9338A>C)

Patient Information: Show

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.295G>C

p.Gly99Arg (Legacy AA No. 59)

Mutation Type:

Point

Domain:

EGF-1

Location:

Exon 4

Mutation Effect:

Missense

Codon Change:

G>C

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Mota et al 2010
Variant likely induces steric clash and destabilizes the FX structure. Legacy cDNA numbering in paper - unknown origin (c.285G>C)

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:C (IU/dl)	FX:Ag(%)	FX:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
11	19	F	Indian	<1		20		Homozygous		Severe	Menorrhagia, bad obstetric history.	Mota et al 2010

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.302delG

Mutation Type:

Deletion

Domain:

EGF-1

Location:

Exon 4

Mutation Effect:

Frameshift

Codon Change:

delG

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Livnat et al 2011
Frameshift mutation results in premature stop codon at residue 113. Truncated protein product is non-functional.

Patient Information: Show

Patient_ID	Age (Yrs)	Race	FX:C (IU/dl)	FX:Ag (IU/dl)	Inheritance	Severity	Comments	Reference
424	2	Palestinian	<1		Homozygous	Severe	Umbilical stump bleeding.	Livnat et al 2011
425	4	Palestinian	<1	1.2	Homozygous	Severe	Intracranial hemorrhage.	Livnat et al 2011
426	29	Palestinian	<1		Homozygous	Severe	Intracranial hemorrhage.	Livnat et al 2011

Structural Interpretation:

Structural analysis cannot be performed on this (Deletion | Frameshift) variant.

c.307G>C

p.Asp103His (Legacy AA No. 63)

Mutation Type:

Point

Domain:

EGF-1

Location:

Exon 4

Mutation Effect:

Missense

Codon Change:

G>C

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Karimi et al 2008
Variant disrupts FX PTM (beta-hydroxylation) at residue 103, leading to loss of FX function.

Patient Information: Show

Patient_ID	Gender	Race	FX:C(%)	Inheritance	Severity	Comments	Reference
165	F	Iranian	<1	Homozygous	Not Reported	Gum bleeding, hematomas, menorrhagia, bleeding after labour. Related to pa_id: 166 & 167.	Karimi et al 2008
166	M	Iranian	44	Heterozygous	Asymptomatic	Asymptomatic. Related to pa_id: 165.	Karimi et al 2008
167	F	Iranian	46	Heterozygous	Not Reported	Prolonged bleeding after labour. Related to pa_id: 165.	Karimi et al 2008

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.349G>T

p.Glu117* (Legacy AA No. 77)

Mutation Type:

Point

Domain:

EGF-1

Location:

Exon 4

Mutation Effect:

Nonsense

Codon Change:

G>T

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Arita et al 2018
Variant leads to premature chain termination and resultant protein product is degraded by nonsense-mediated mRNA decay.

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:C (IU/dl)	FX:Ag(%)	FX:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
201	35	F	Japanese	33		33		Heterozygous		Not Reported	Prolonged hemorrhage after resection of endocervical polyp. Related to pa_id: 202.	Arita et al 2018
202		F	Japanese	54		52		Heterozygous		Asymptomatic	No bleeding history. Related to pa_id: 201.	Arita et al 2018

Structural Interpretation:

Structural analysis cannot be performed on this (Point | Nonsense) variant.

c.353G>A

p.Gly118Asp (Legacy AA No. 78)

Mutation Type:

Point

Domain:

EGF-1

Location:

Exon 4

Mutation Effect:

Missense

Codon Change:

G>A

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Peyvandi et al 2002; Togashi et al 2020
Variant disrupts folding of EGF-1 domain, disrupting overall FX protein structure.

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
203	2	F	Japanese	<1	5	Heterozygous	c.1303G>A (p.Gly435Ser)	Not Reported	Easy bruising, umbilical cord bleeding at birth, subcutaneous hematomas on waist and back. Related to pa_id: 204, 205 & 206.	Togashi et al 2020
204		M	Japanese	50	52	Heterozygous		Not Reported	Related to pa_id: 203 & 205.	Togashi et al 2020
205	5	F	Japanese	39	36	Heterozygous		Not Reported	Related to pa_id: 203, 204 & 206.	Togashi et al 2020
80	55	M	Iranian	<1	8	Homozygous		Severe	Bleeding after circumcision, hemarthrosis, hematomas, hematuria, mucosal bleeding.	Peyvandi et al 2002

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.361T>C

p.Cys121Arg (Legacy AA No. 81)

Mutation Type:

Point

Domain:

EGF-1

Location:

Exon 4

Mutation Effect:

Missense

Codon Change:

T>C

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

251206

Allele Frequency *:

0.000008

References and Comments:

Jin et al 2018
Variant disrupts disulfide bond formation (Cys121-Cys112), interfering with EGF-1 domain folding and overall protein structure.

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:Ag(%)	Inheritance	Severity	Comments	Reference
207	48	F	Chinese	35	43	Heterozygous	Not Reported	Suffers from FX and FVII deficiency (FVII Arg353Gln). Related to pa_id: 208 & 209.	Jin et al 2018
208	73	F	Chinese	40	43	Heterozygous	Not Reported	Related to pa_id: 207 & 209.	Jin et al 2018
209	20	F	Chinese	42	47	Heterozygous	Not Reported	Related to pa_id: 207 & 208.	Jin et al 2018

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.362G>A

p.Cys121Tyr (Legacy AA No. 81)

Mutation Type:

Point

Domain:

EGF-1

Location:

Exon 4

Mutation Effect:

Missense

Codon Change:

G>A

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Peyvandi et al 2002
Variant disrupts disulfide bond formation (Cys121-Cys112), interfering with EGF-1 domain folding and overall protein structure.

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:C (IU/dl)	FX:Ag(%)	FX:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
81	48	M	Iranian	25		28		Homozygous		Severe	Severe bleeding (umbilical cord bleeding, hematomas, hematuria, hemarthrosis, gastrointestinal bleeds).	Peyvandi et al 2002
82	19	M	Iranian	9		14		Homozygous		Severe	Severe bleeding (umbilical cord bleeding, hematomas, hematuria, hemarthrosis, gastrointestinal bleeds).	Peyvandi et al 2002

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.400G>A

p.Gly134Arg (Legacy AA No. 94)

Mutation Type:

Point

Domain:

EGF-2

Location:

Exon 5

Mutation Effect:

Missense

Codon Change:

G>A

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

282682

Allele Frequency *:

0.000025

References and Comments:

Peyvandi et al 2002; Herrmann et al 2006
Substitution of Gly with a charged residue likely disrupts FX structure and secretion.

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
168		M	Iranian	<1	3	Homozygous		Severe	Bleeding post-circumcision and dental extraction, hematomas. Related to pa_id: 169 & 170.	Karimi et al 2008
169		M	Iranian	40	38	Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 168.	Karimi et al 2008
170		F	Iranian	45	40	Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 168.	Karimi et al 2008
83	30	M	Iranian	2	4	Homozygous	c.405C>A (p.Asp135Glu)	Severe	Hematomas, hemarthosis, epistaxis, oral bleeds. Related to pa_id: 84.	Peyvandi et al 2002
84	16	M	Iranian	<1	3	Homozygous	c.405C>A (p.Asp135Glu)	Severe	Hematomas, hemarthosis, epistaxis, oral bleeds. Related to pa_id: 83.	Peyvandi et al 2002

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.405C>A

p.Asp135Glu (Legacy AA No. 95)

Mutation Type:

Point

Domain:

EGF-2

Location:

Exon 5

Mutation Effect:

Missense

Codon Change:

C>A

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Peyvandi et al 2002

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:C (IU/dl)	FX:Ag(%)	FX:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
83	30	M	Iranian	2		4		Homozygous	c.400G>A (p.Gly134Arg)	Severe	Hematomas, hemarthosis, epistaxis, oral bleeds. Related to pa_id: 84.	Peyvandi et al 2002
84	16	M	Iranian	<1		3		Homozygous	c.400G>A (p.Gly134Arg)	Severe	Hematomas, hemarthosis, epistaxis, oral bleeds. Related to pa_id: 83.	Peyvandi et al 2002

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.413A>T

p.Gln138Leu (Legacy AA No. 98)

Mutation Type:

Point

Domain:

EGF-2

Location:

Exon 5

Mutation Effect:

Missense

Codon Change:

A>T

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Rath et al 2015

Patient Information: Show

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.424G>A

p.Glu142Lys (Legacy AA No. 102)

Mutation Type:

Point

Domain:

EGF-2

Location:

Exon 5

Mutation Effect:

Missense

Codon Change:

G>A

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Watzke et al 1990; Marchetti et al 1995; Herrmann et al 2006
(FX Vorarlberg). Legacy cDNA numbering in Marchetti paper - Leytus et al 1986 (c.449G>A)

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:C (IU/dl)	FX:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
107		M	Austrian				Homozygous	c.160G>A (p.Glu54Lys)	Not Reported	Mild bruising but no apparent bleeding tendency. Related to pa_id: 108-114.	Watzke et al 1990
108		M	Austrian				Homozygous	c.160G>A (p.Glu54Lys)	Not Reported	Related to pa_id: 107, 109-114.	Watzke et al 1990
109		F	Austrian				Homozygous	c.160G>A (p.Glu54Lys)	Not Reported	Related to pa_id: 107, 108, 110-114.	Watzke et al 1990
110		M	Austrian				Heterozygous	c.160G>A (p.Glu54Lys)	Not Reported	Related to pa_id: 107, 108, 109, 111-114.	Watzke et al 1990
111		M	Austrian				Heterozygous	c.160G>A (p.Glu54Lys)	Not Reported	Related to pa_id: 107-110, 112, 113 & 114.	Watzke et al 1990
112		F	Austrian				Heterozygous	c.160G>A (p.Glu54Lys)	Not Reported	Related to pa_id: 107-111, 113 & 114.	Watzke et al 1990
113		F	Austrian				Heterozygous	c.160G>A (p.Glu54Lys)	Not Reported	Related to pa_id: 107-112 & 114.	Watzke et al 1990
114		F	Austrian				Heterozygous	c.160G>A (p.Glu54Lys)	Not Reported	Related to pa_id: 107-113.	Watzke et al 1990
213			German	53			Heterozygous		Not Reported		Rath et al 2015
217	14	M		54		72	Heterozygous	c.1120C>T (p.Ser374Pro)	Asymptomatic	No family history of bleeding. Related to pa_id: 219.	Marchetti et al 1995
219		F		68		66	Heterozygous	c.1120C>T (p.Ser374Pro)	Asymptomatic	No family history of bleeding. Related to pa_id: 217.	Marchetti et al 1995
293					50		-		Not Reported	Asymptomatic. (Combined FX & FVII deficiency).	Pavlova et al 2015

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.430C>T

p.Gln144* (Legacy AA No. 104)

Mutation Type:

Point

Domain:

EGF-2

Location:

Exon 5

Mutation Effect:

Nonsense

Codon Change:

C>T

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Bang et al 2012
Variant results in premature chain termination. Legacy cDNA numbering in paper - unknown origin (c.310C>T)

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:C (IU/dl)	FX:Ag(%)	FX:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
220	1 m	M	Korean	1				-		Moderate	Subdural hemorrhage and abscess. Recurrent hemorrhagic episodes. Treated successfully via liver-transplantation. Related to pa_id: 221.	Bang et al 2012
221		F	Korean	46				-		Asymptomatic	Related to pa_id:220.	Bang et al 2012

Structural Interpretation:

Structural analysis cannot be performed on this (Point | Nonsense) variant.

c.446G>A

p.Cys149Tyr (Legacy AA No. 109)

Mutation Type:

Point

Domain:

EGF-2

Location:

Exon 5

Mutation Effect:

Missense

Codon Change:

G>A

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Millar et al 2000
Variant disrupts disulfide bond formation, interfering with protein folding and overall structure.

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:C (IU/dl)	FX:Ag(%)	FX:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
41				<1		23		Homozygous		Severe	Significant hemorrhagic symptoms. Related to pa_id: 42.	Millar et al 2000
42		M		59		41		Heterozygous		Not Reported	Related to pa_id: 41.	Millar et al 2000

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.452G>A

p.Cys151Tyr (Legacy AA No. 111)

Mutation Type:

Point

Domain:

EGF-2

Location:

Exon 5

Mutation Effect:

Missense

Codon Change:

G>A

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Millar et al 2000
Variant disrupts disulfide bond formation, interfering with protein folding and overall structure.

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:C (IU/dl)	FX:Ag(%)	FX:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
55				12		26		Heterozygous	c.116C>T (p.Thr39Met)c.-40C>T ( )	Asymptomatic	Asymptomatic.	Millar et al 2000

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.454G>A

p.Ala152Thr (Legacy AA No. 112)

Mutation Type:

Point

Domain:

EGF-2

Location:

Exon 5

Mutation Effect:

Missense

Codon Change:

G>A

No. of Patients Reported:

Phenotype:

None

Allele Count *:

Allele Number *:

282488

Allele Frequency *:

0.000021

References and Comments:

Unpublished Data
Polymorphism.

Patient Information: Show

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.460G>A

p.Gly154Arg (Legacy AA No. 114)

Mutation Type:

Point

Domain:

EGF-2

Location:

Exon 5

Mutation Effect:

Missense

Codon Change:

G>A

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

282430

Allele Frequency *:

0.000142

References and Comments:

Wallmark et al 1991; Herrmann et al 2006
(FX Ӧckerӧ).

Patient Information: Show

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.514delT

p.Cys172ValfsTer95-

Mutation Type:

Deletion

Domain:

Linker

Location:

Exon 6

Mutation Effect:

Frameshift

Codon Change:

delT

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

247446

Allele Frequency *:

0.000004

References and Comments:

Jayandharan et al 2005
Frameshift mutation starting within codon Cys172 leads to premature stop codon at residue 266. Also, frameshift disrupts disulfide bond formation between Cys172-Cys342, destabilizing FX structure.

Patient Information: Show

Structural Interpretation:

Structural analysis cannot be performed on this (Deletion | Frameshift) variant.

c.516T>G

p.Cys172Trp (Legacy AA No. 132)

Mutation Type:

Point

Domain:

Linker

Location:

Exon 6

Mutation Effect:

Missense

Codon Change:

T>G

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

247652

Allele Frequency *:

0.000004

References and Comments:

Jayandharan et al 2005
Disrupts disulfide bond formation between Cys172-Cys342, destabilizing FX structure.

Patient Information: Show

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.517G>T

p.Gly173Trp (Legacy AA No. 133)

Mutation Type:

Point

Domain:

Linker

Location:

Exon 6

Mutation Effect:

Missense

Codon Change:

G>T

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Corsini et al 2015
Variant disrupts structure and function of FX protein.

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:C (IU/dl)	FX:Ag(%)	FX:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
222	38	M		<5				Heterozygous	c.139delG ( )	Severe	Petechiae at birth, subcutaneous hematoma, mild hematuria.	Corsini et al 2015

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.517G>A

p.Gly173Arg (Legacy AA No. 133)

Mutation Type:

Point

Domain:

Linker

Location:

Exon 6

Mutation Effect:

Missense

Codon Change:

G>A

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Jayandharan et al 2005
Variant may interfere with neighbouring disulfide bonds (esp. Cys172-Cys342), disrupting FX structure and function.

Patient Information: Show

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.523T>C

p.Gln175* (Legacy AA No. 135)

Mutation Type:

Point

Domain:

Linker

Location:

Exon 6

Mutation Effect:

Nonsense

Codon Change:

T>C

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Borhany et al 2018
Premature chain termination - lack of functional circulating FX.

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:C (IU/dl)	FX:Ag(%)	FX:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
33	0.7	F	Pakistani	2				Homozygous		Severe	Umbilical cord bleed, intracranial hemorrhage, hematoma.	Borhany et al 2018

Structural Interpretation:

Structural analysis cannot be performed on this (Point | Nonsense) variant.

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Factor X Variant Database

Factor X Gene (F10)

Variant Database

Data Export Options:

UNIQUE (Without Patient Data) : EXCEL/CSV TABULAR MULTIPLE (With Patient Data) : EXCEL/CSV TABULAR

Full List of Variants: 180 unique variants retrieved (displaying 50 entries per page). Scroll down to navigate to the next page(s).

References and Comments:

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Structural Interpretation:

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Structural Interpretation:

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Structural Interpretation:

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Structural Interpretation:

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Structural Interpretation:

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Structural Interpretation:

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Structural Interpretation:

References and Comments:

Patient Information: Show

Structural Interpretation:

UNIQUE (Without Patient Data) :

EXCEL/CSV

TABULAR

MULTIPLE (With Patient Data) :

EXCEL/CSV

TABULAR