Factor X Variant Database

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TABULAR

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.-223T>A

Mutation Type:

Point

Domain:

Undefined

Location:

Mutation Effect:

Missense

Codon Change:

T>A

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Mota et al 2010
Polymorphism.

Patient Information: Show

Structural Interpretation:

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

c.-221C>A

Mutation Type:

Point

Domain:

Undefined

Location:

Mutation Effect:

Missense

Codon Change:

C>A

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Mota et al 2010
Polymorphism.

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
15	9	M	Indian	<1				-	c.792C>T (p.Thr264=)c.-40C>T ( )	Not Reported	Hemetemesis, hemarthrosis, dental extraction bleed, CNS bleed.	Mota et al 2010

Structural Interpretation:

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

c.-40C>T

Mutation Type:

Point

Domain:

Undefined

Location:

Mutation Effect:

Missense

Codon Change:

C>T

No. of Patients Reported:

Phenotype:

Allele Count *:

7737

Allele Number *:

276020

Allele Frequency *:

0.028031

References and Comments:

Mota et al 2010
Polymorphism.

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
15	9	M	Indian	<1		-	c.792C>T (p.Thr264=)c.-221C>A ( )	Not Reported	Hemetemesis, hemarthrosis, dental extraction bleed, CNS bleed.	Mota et al 2010
16	21	F	Indian	<1	<1	Heterozygous	c.792C>T (p.Thr264=)c.1061T>G (p.Met354Arg)	Not Reported	Menorrhagia, mucosal bleeds.	Mota et al 2010
55				12	26	Heterozygous	c.116C>T (p.Thr39Met)c.452G>A (p.Cys151Tyr)	Asymptomatic	Asymptomatic.	Millar et al 2000
56				68	74	Heterozygous	c.910G>A (p.Glu304Lys)	Asymptomatic	Asymptomatic. Related to pa_id: 57, 58, 59 & 60.	Millar et al 2000
57		F		94	96	Homozygous		Asymptomatic	Related to pa_id: 56, 58, 59 & 60.	Millar et al 2000
58				89	101	Heterozygous		Asymptomatic	Related to pa_id: 56, 57, 59 & 60.	Millar et al 2000

Structural Interpretation:

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

IVS5+1G>A

Mutation Type:

Point

Domain:

Splice Site

Location:

Intron 5

Mutation Effect:

Splice site

Codon Change:

G>A

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Zhou et al 2013
Variant occurs in donor splice site. Mutant transcript is rapidly degraded by nonsense-medicated mRNA decay.

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
405	36	M	Chinese	0.22	53.36	Heterozygous	Undefined cDNA - deletion (D408del) (p.Asp408del)	Severe	Epistaxis, gum bleeding. Related to pa_id: 406-410.	Zhou et al 2013
406		M	Chinese	55.96	59.45	Heterozygous		Not Reported	No bleeding history. Related to pa_id: 405, 407-410.	Zhou et al 2013
407		M	Chinese	0.22	53.79	Heterozygous	Undefined cDNA - deletion (D408del) (p.Asp408del)	Not Reported	Epistaxis, gum bleeding. Related to pa_id: 405, 406, 408, 409 & 410.	Zhou et al 2013
408		F	Chinese	50.77	67.34	Heterozygous		Not Reported	No bleeding history. Related to pa_id: 405, 406, 407, 409 & 410.	Zhou et al 2013
409		F	Chinese	42.53	60.19	Heterozygous		Not Reported	No bleeding history. Related to pa_id: 405-408 & 410.	Zhou et al 2013

Structural Interpretation:

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

Undefined cDNA - deletion (Exon 6)

Mutation Type:

Deletion

Domain:

Activation peptide

Location:

Exon 6

Mutation Effect:

Codon Change:

Deletion exon 6

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Hainmann et al 2009
Deletion results in reduced FX activty and increased FX plasma clearance.

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
265	15	F		<1				Heterozygous	c.856G>A (p.Val286Met)	Severe	Microcytic anemia, tooth bleeding, hemarthrosis, hematomas. Related to pa_id: 266.	Hainmann et al 2009
266		F		56				Heterozygous		Not Reported	No increased bleeding symptoms. Related to pa_id: 265.	Hainmann et al 2009

Structural Interpretation:

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

Undefined cDNA - deletion (Exons7-8)

Mutation Type:

Deletion

Domain:

Serine protease

Location:

Exons 7-8

Mutation Effect:

Codon Change:

Deletion exons 7-8

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Bernardi et al 1989
Loss of catalytic domain. Truncated 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
394		F		4		7		Heterozygous		Not Reported	Paternal mutation not identified in analysis. Related to pa_id: 395 & 396.	Bernardi et al 1989
395		F		38		35		Heterozygous		Not Reported	Related to pa_id: 394.	Bernardi et al 1989

Structural Interpretation:

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

Undefined cDNA - deletion (Exons 1-8)

Mutation Type:

Deletion

Domain:

Undefined

Location:

Exons 1-8

Mutation Effect:

Codon Change:

Deletion exons 1-8

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Wieland et al 1991
Deletion of entire FX gene.

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
210			German	51		Heterozygous		Not Reported	Combined FX and FVII deficiency. Asymptomatic.	Rath et al 2015
212			German	48		Heterozygous		Not Reported	Combined FX and FVII deficiency. Easy bruising.	Rath et al 2015
411	27	F	Yemeni	53	30	Heterozygous		Not Reported	No bleeding history. Related to pa_id: 413, 414 & 415.	Wieland et al 1991
413	5	M	Yemeni	1	1.8	Heterozygous	Undefined cDNA - deletion (Exons 7-8) ( )	Not Reported	Large parietal hematoma, subarachnoid hemorrhage. Related to pa_id: 411, 412, 414 & 415.	Wieland et al 1991

Structural Interpretation:

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

IVS1+3A>T

Mutation Type:

Point

Domain:

Splice Site

Location:

Intron 1

Mutation Effect:

Splice site

Codon Change:

A>T

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Peyvandi et al 2002
Variant removes native donor splice site, interfering with pre-mRNA processing.

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
75	8	M	Iranian			7		Homozygous		Severe		Peyvandi et al 2002

Structural Interpretation:

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

Undefined cDNA - insertion

Mutation Type:

Insertion

Domain:

UTR 3

Location:

Flanking UTR 3

Mutation Effect:

Frameshift

Codon Change:

InsTGCCGCCA

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Ameri et al 2007
Variant has no effect on FX pre-mRNA processing or FX native structure but reduces FX mRNA synthesis (FX AUGUSTA).

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C (IU/dl)	FX:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
402	14	M	African-American	<0.2	<0.2	Homozygous	c.1430_1434delATGCC ( )	Severe	Post-circumcision bleeding, intra-muscular and -joint bleeds. Related to pa_id: 403 & 404.	Ameri et al 2007
403		F	African-American	54	47	Heterozygous	c.1430_1434delATGCC ( )	Not Reported	Related to pa_id: 402.	Ameri et al 2007
404		M	African-American	72.7	65	Heterozygous	c.1430_1434delATGCC ( )	Not Reported	Related to pa_id: 402.	Ameri et al 2007

Structural Interpretation:

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

Undefined cDNA - deletion (Exons 1-6)

Mutation Type:

Deletion

Domain:

Undefined

Location:

Exons 1-6

Mutation Effect:

Codon Change:

Deletion exons 1-6

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Pavlova et al 2015

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
211			Caucasian	<1				Heterozygous	c.162_165delAAGA (p.Glu54GlufsX59)	Not Reported	Combined FX and FVII deficiency. Severe periumbilical bleeding and cutaneous post-natal bruises.	Rath et al 2015
289					2			Heterozygous	c.1147C>T (p.Pro383Ser)	Not Reported	Epistaxis gum bleeding, severe postoperative bleeding. (Combined FX & FVII deficiency).	Pavlova et al 2015

Structural Interpretation:

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

IVS7-1G>A

Mutation Type:

Point

Domain:

Splice Site

Location:

Intron 7

Mutation Effect:

Splice site

Codon Change:

G>A

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Herrmann et al 2006

Patient Information: Show

Structural Interpretation:

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

Undefined cDNA - deletion

Mutation Type:

Deletion

Domain:

Undefined

Location:

Mutation Effect:

Inframe

Codon Change:

delATTGTG

No. of Patients Reported:

Phenotype:

None

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Wang et al 2015
Deletion is a non disease associated polymorphism.

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
368	16	F	Chinese	2.4		10.8		Homozygous	c.1271T>C (p.Val424Ala)	Severe	Epistaxis, menorrhagia, postoperative hemorrhage. Related to pa_id: 369, 370 & 371.	Wang et al 2015

Structural Interpretation:

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

c.1430_1434delATGCC

Mutation Type:

Deletion

Domain:

Serine protease

Location:

Exon 8

Mutation Effect:

Frameshift

Codon Change:

delATGCC

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

31398

Allele Frequency *:

0.000032

References and Comments:

Ameri et al 2007
Variant has no effect on FX pre-mRNA processing or FX native structure but reduces FX mRNA synthesis (FX AUGUSTA).

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C (IU/dl)	FX:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
402	14	M	African-American	<0.2	<0.2	Homozygous	Undefined cDNA - insertion ( )	Severe	Post-circumcision bleeding, intra-muscular and -joint bleeds. Related to pa_id: 403 & 404.	Ameri et al 2007
403		F	African-American	54	47	Heterozygous	Undefined cDNA - insertion ( )	Not Reported	Related to pa_id: 402.	Ameri et al 2007
404		M	African-American	72.7	65	Heterozygous	Undefined cDNA - insertion ( )	Not Reported	Related to pa_id: 402.	Ameri et al 2007

Structural Interpretation:

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

Undefined cDNA - deletion (Exon 2)

Mutation Type:

Deletion

Domain:

Gla domain

Location:

Exon 2

Mutation Effect:

Codon Change:

Deletion exon 2

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

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
131	16	M	American		<1		<1	Heterozygous	c.1231C>T (p.Gln411*)	Severe	Spontaneous/ hemorrhagic bleeding.	Mitchell et al 2019

Structural Interpretation:

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

IVS1-1G>C

Mutation Type:

Point

Domain:

Splice Site

Location:

Intron 1

Mutation Effect:

Splice site

Codon Change:

G>C

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Millar et al 2000
Acceptor splice site defect.

Patient Information: Show

Structural Interpretation:

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

Undefined cDNA - deletion (Exon 1)

Mutation Type:

Deletion

Domain:

Pre-pro leader

Location:

Exon 1

Mutation Effect:

Codon Change:

Deletion exon 1

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Pavlova et al 2015

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
285					36			Heterozygous		Not Reported	Epistaxis gum bleeding. (Combined FX & FVII deficiency). Related to pa_id: 286.	Pavlova et al 2015
286		F			40			Heterozygous		Not Reported	Epistaxis gum bleeding. (Combined FX & FVII deficiency). Related to pa_id: 285.	Pavlova et al 2015

Structural Interpretation:

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

Undefined cDNA - deletion (Exons 7-8)

Mutation Type:

Deletion

Domain:

Serine protease

Location:

Exons 7-8

Mutation Effect:

Codon Change:

Deletion exons 7-8

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Wieland et al 1991

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
412	35	M	Yemeni	58	39	Heterozygous		Not Reported	No bleeding history. Related to pa_id: 413, 414 & 415.	Wieland et al 1991
413	5	M	Yemeni	1	1.8	Heterozygous	Undefined cDNA - deletion (Exons 1-8) ( )	Not Reported	Large parietal hematoma, subarachnoid hemorrhage. Related to pa_id: 411, 412, 414 & 415.	Wieland et al 1991
414	3	F	Yemeni	54	42	Heterozygous		Not Reported	No bleeding history. Related to pa_id: 411, 412, 413 & 415.	Wieland et al 1991
415		F	Yemeni	24	29	Heterozygous		Not Reported	No bleeding history. Assayed in utero. Related to pa_id: 411-414.	Wieland et al 1991

Structural Interpretation:

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

IVS1+1G>A

Mutation Type:

Point

Domain:

Splice Site

Location:

Intron 1

Mutation Effect:

Splice site

Codon Change:

G>A

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Wang et al 2004; Wang et al 2005; Girolami et al 2018
Variant occurs at donor splice site and may interfere with pre-mRNA splicing.

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
376	76	M		15		15		Heterozygous	c.1276C>T (p.Arg426Cys)	Not Reported	Minor hematuria, epistaxis, postoperative bleeding.	Vanden Hoek et al 2012

Structural Interpretation:

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

IVS2-3T>G

Mutation Type:

Point

Domain:

Splice Site

Location:

Intron 2

Mutation Effect:

Splice site

Codon Change:

T>G

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Peyvandi et al 2002
Variant reduces splicing efficiency.

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
88	37	M	Iranian			3		Homozygous		Severe	Knee hemarthrosis, hematomas, epistaxis, oral bleeds.	Peyvandi et al 2002

Structural Interpretation:

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

Undefined cDNA - deletion (Intron 4)

Mutation Type:

Deletion

Domain:

Intronic Region

Location:

Intron 4

Mutation Effect:

Inframe

Codon Change:

delCCT

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Hayashi et al 1998
Deletion occurs within acceptor splice site thus alters splicing and decreases FX production.

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:Ag(%)	Inheritance	Severity	Comments	Reference
399	56	F	Japanese	2.5	<5	Homozygous	Not Reported	Frequent subcutaneous hemorrhage, epistaxis, hypermenorrhea, prolonged bleeding after labour and tooth extraction. Related to pa_id: 400 & 401.	Hayashi et al 1998
400		F	Japanese	50		Heterozygous	Not Reported	Related to pa_id: 399 & 401.	Hayashi et al 1998
401		F	Japanese	69		Heterozygous	Not Reported	Related to pa_id: 399 & 400.	Hayashi et al 1998

Structural Interpretation:

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

Undefined cDNA (L9P)

p.Leu9Pro (Legacy AA No. -32)

Mutation Type:

Point

Domain:

Pre-pro leader

Location:

Exon 1

Mutation Effect:

Missense

Codon Change:

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Herrmann et al 2006

Patient Information: Show

Structural Interpretation:

Please click HERE for in-depth variant analysis.

Undefined cDNA (A12P)

p.Ala12Pro (Legacy AA No. -29)

Mutation Type:

Point

Domain:

Pre-pro leader

Location:

Exon 1

Mutation Effect:

Missense

Codon Change:

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Liang et al 2013
Variant impairs FX secretion.

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
25	71	M		7.4		9.5		Heterozygous	Undefined cDNA (F364L) (p.Phe364Leu)	Mild	Scrotal hematoma, hematuria, intramuscular hematoma. Related to pa_id: 28 & 29.	Liang et al 2013
28		F		55.9		54.7		Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 25 & 29.	Liang et al 2013

Structural Interpretation:

Please click HERE for in-depth variant analysis.

Undefined cDNA (E47K)

p.Glu47Lys (Legacy AA No. 7)

Mutation Type:

Point

Domain:

Gla domain

Location:

Exon 2

Mutation Effect:

Missense

Codon Change:

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Herrmann et al 2006

Patient Information: Show

Structural Interpretation:

Please click HERE for in-depth variant analysis.

Undefined cDNA (R68C)

p.Arg68Cys (Legacy AA No. 28)

Mutation Type:

Point

Domain:

Gla domain

Location:

Exon 2

Mutation Effect:

Missense

Codon Change:

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Hu et al 2017

Patient Information: Show

Structural Interpretation:

Please click HERE for in-depth variant analysis.

Undefined cDNA (E72D)

p.Glu72Asp (Legacy AA No. 32)

Mutation Type:

Point

Domain:

Gla domain

Location:

Exon 2

Mutation Effect:

Missense

Codon Change:

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Girolami et al 2019

Patient Information: Show

Structural Interpretation:

Please click HERE for in-depth variant analysis.

Undefined cDNA (E91K)

p.Glu91Lys (Legacy AA No. 51)

Mutation Type:

Point

Domain:

EGF-1

Location:

Exon 4

Mutation Effect:

Missense

Codon Change:

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Al-Hilali et al 2007
Substitution of acidic residue by basic suggests variant disrupts structure and thus function of FX (FX Riyadh).

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C (IU/dl)	Inheritance	Severity	Comments	Reference
186	64	M	Saudi Arabian	4	Homozygous	Not Reported	Related to pa_id: 187-192.	Al-Hilali et al 2007
187	7	F	Saudi Arabian	45	Heterozygous	Not Reported	Related to pa_id: 186, 188-192.	Al-Hilali et al 2007
188	24	F	Saudi Arabian	40	Heterozygous	Not Reported	Related to pa_id: 186, 187, 189-192.	Al-Hilali et al 2007
189	21	F	Saudi Arabian	49	Heterozygous	Not Reported	Related to pa_id: 186, 187, 188, 190, 191 & 192.	Al-Hilali et al 2007
190	15	M	Saudi Arabian	46	Heterozygous	Not Reported	Related to pa_id: 186-189, 191 & 192.	Al-Hilali et al 2007
191	12	F	Saudi Arabian	46	Heterozygous	Not Reported	Related to pa_id: 186-190 & 192.	Al-Hilali et al 2007
192	10	F	Saudi Arabian	67	Heterozygous	Not Reported	Related to pa_id: 186-191.	Al-Hilali et al 2007
193	77	F	Saudi Arabian		Heterozygous	Not Reported	Related to pa_id: 195-200.	Al-Hilali et al 2007
194		M	Saudi Arabian		Heterozygous	Not Reported	Related to pa_id: 195-200.	Al-Hilali et al 2007
195	46	M	Saudi Arabian	5	Homozygous	Not Reported	Related to pa_id: 193, 194, 196-200.	Al-Hilali et al 2007
196	36	F	Saudi Arabian		-	Not Reported	Related to pa_id: 193, 194, 195, 197-200.	Al-Hilali et al 2007
197	17	M	Saudi Arabian		Heterozygous	Not Reported	Related to pa_id: 193-196, 198, 199, & 200.	Al-Hilali et al 2007
198	6	M	Saudi Arabian		Heterozygous	Not Reported	Related to pa_id: 193-197, 199, & 200.	Al-Hilali et al 2007
199	24	F	Saudi Arabian	30	Heterozygous	Not Reported	Related to pa_id: 193-198, & 200.	Al-Hilali et al 2007
200	9	F	Saudi Arabian	90	Heterozygous	Not Reported	Related to pa_id: 193-199.	Al-Hilali et al 2007

Structural Interpretation:

Please click HERE for in-depth variant analysis.

Undefined cDNA (C101*)

p.Cys101* (Legacy AA No. 61)

Mutation Type:

Point

Domain:

EGF-1

Location:

Exon 4

Mutation Effect:

Nonsense

Codon Change:

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Zivelin et al 2003

Patient Information: Show

Structural Interpretation:

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

Undefined cDNA (C151R)

p.Cys151Arg (Legacy AA No. 111)

Mutation Type:

Point

Domain:

EGF-2

Location:

Exon 5

Mutation Effect:

Missense

Codon Change:

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Liang et al 2013
Variant disrupts disulfide bond formation (Cys151-Cys164), interfering with protein folding, secretion and stability.

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
27	10	M		3.2		5.5		Heterozygous	Undefined cDNA (M402T) (p.Met402Thr)	Severe	Right frontal subdural hematoma.	Liang et al 2013

Structural Interpretation:

Please click HERE for in-depth variant analysis.

Undefined cDNA (Y170*)

p.Tyr170* (Legacy AA No. 130)

Mutation Type:

Point

Domain:

Linker

Location:

Exon 6

Mutation Effect:

Nonsense

Codon Change:

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Akhavan et al 2007
Premature chain termination resulting in production of truncated 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
185	59	M	Algerian	<1		2		Heterozygous	c.212T>C (p.Phe71Ser)	Severe	Severe bleeding (spontaneous and/or life-threatening).	Akhavan et al 2007

Structural Interpretation:

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

Undefined cDNA (R182M)

p.Arg182Met (Legacy AA No. 142)

Mutation Type:

Point

Domain:

Linker

Location:

Exon 6

Mutation Effect:

Missense

Codon Change:

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Herrmann et al 2006

Patient Information: Show

Structural Interpretation:

Please click HERE for in-depth variant analysis.

Undefined cDNA - deletion (Y203del)

p.Tyr203del (Legacy AA No. 163)

Mutation Type:

Deletion

Domain:

Activation peptide

Location:

Exon 6

Mutation Effect:

Frameshift

Codon Change:

delAT

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Herrmann et al 2005; Herrmann et al 2006
Deletion leads to premature chain termination and subsequent degradation of the truncated product.

Patient Information: Show

Structural Interpretation:

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

Undefined cDNA (T273M)

p.Thr273Met (Legacy AA No. 233)

Mutation Type:

Point

Domain:

Serine protease

Location:

Exon 7

Mutation Effect:

Missense

Codon Change:

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Bereczky et al 2007

Patient Information: Show

Structural Interpretation:

Please click HERE for in-depth variant analysis.

Undefined cDNA (A274S)

p.Ala274Ser (Legacy AA No. 234)

Mutation Type:

Point

Domain:

Serine protease

Location:

Exon 7

Mutation Effect:

Missense

Codon Change:

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Herrmann et al 2006

Patient Information: Show

Structural Interpretation:

Please click HERE for in-depth variant analysis.

Undefined cDNA (A275T)

p.Ala275Thr (Legacy AA No. 235)

Mutation Type:

Point

Domain:

Serine protease

Location:

Exon 7

Mutation Effect:

Missense

Codon Change:

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Liang et al 2013

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
26	37	M		6.2		36.9		Heterozygous	c.1159C>T (p.Arg387Cys)	Severe	Gum bleeds, excessive bleeding following surgery, hemarthrosis.	Liang et al 2013

Structural Interpretation:

Please click HERE for in-depth variant analysis.

Undefined cDNA (G299=)

p.Gly299= (Legacy AA No. 259)

Mutation Type:

Point

Domain:

Serine protease

Location:

Exon 8

Mutation Effect:

Silent

Codon Change:

No. of Patients Reported:

Phenotype:

None

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Mota et al 2010
Polymorphism. Silent mutation.

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	c.44C>A (p.Ala15Asp)	Mild	Echymosis, gum bleeds.	Mota et al 2010
7	12	M	Indian	<1	<1	Homozygous	c.44C>A (p.Ala15Asp)	Severe	Hemarthrosis.	Mota et al 2010
8	7	M	Indian	<1	<1	Homozygous	c.44C>A (p.Ala15Asp)	Severe	Hemarthrosis.	Mota et al 2010

Structural Interpretation:

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

Undefined cDNA - deletion (I309del)

p.Ile309del (Legacy AA No. 269)

Mutation Type:

Deletion

Domain:

Serine protease

Location:

Exon 8

Mutation Effect:

Inframe

Codon Change:

delTCA

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Herrmann et al 2006

Patient Information: Show

Structural Interpretation:

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

Undefined cDNA (F321L)

p.Phe321Leu (Legacy AA No. 281)

Mutation Type:

Point

Domain:

Serine protease

Location:

Exon 8

Mutation Effect:

Missense

Codon Change:

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Herrmann et al 2006

Patient Information: Show

Structural Interpretation:

Please click HERE for in-depth variant analysis.

Undefined cDNA (I323M)

p.Ile323Met (Legacy AA No. 283)

Mutation Type:

Point

Domain:

Serine protease

Location:

Exon 8

Mutation Effect:

Missense

Codon Change:

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Hu et al 2017

Patient Information: Show

Structural Interpretation:

Please click HERE for in-depth variant analysis.

Undefined cDNA (W348L)

p.Trp348Leu (Legacy AA No. 308)

Mutation Type:

Point

Domain:

Serine protease

Location:

Exon 8

Mutation Effect:

Missense

Codon Change:

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Bereczky et al 2007

Patient Information: Show

Structural Interpretation:

Please click HERE for in-depth variant analysis.

Undefined cDNA (F364L)

p.Phe364Leu (Legacy AA No. 324)

Mutation Type:

Point

Domain:

Serine protease

Location:

Exon 8

Mutation Effect:

Missense

Codon Change:

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Liang et al 2013
Phe364 plays a key role in maintaining FX stability. Thus, variant destabilizes FX and leads to misfolding.

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
25	71	M		7.4		9.5		Heterozygous	Undefined cDNA (A12P) (p.Ala12Pro)	Mild	Scrotal hematoma, hematuria, intramuscular hematoma. Related to pa_id: 28 & 29.	Liang et al 2013
29		F		55.5		57.1		Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 25 & 28.	Liang et al 2013

Structural Interpretation:

Please click HERE for in-depth variant analysis.

Undefined cDNA (E369G)

p.Glu369Gly (Legacy AA No. 329)

Mutation Type:

Point

Domain:

Serine protease

Location:

Exon 8

Mutation Effect:

Missense

Codon Change:

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Herrmann et al 2006

Patient Information: Show

Structural Interpretation:

Please click HERE for in-depth variant analysis.

Undefined cDNA (S393Y)

p.Ser393Tyr (Legacy AA No. 353)

Mutation Type:

Point

Domain:

Serine protease

Location:

Exon 8

Mutation Effect:

Missense

Codon Change:

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Herrmann et al 2006

Patient Information: Show

Structural Interpretation:

Please click HERE for in-depth variant analysis.

Undefined cDNA (M402T)

p.Met402Thr (Legacy AA No. 362)

Mutation Type:

Point

Domain:

Serine protease

Location:

Exon 8

Mutation Effect:

Missense

Codon Change:

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Liang et al 2013

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
27	10	M		3.2		5.5		Heterozygous	Undefined cDNA (C151R) (p.Cys151Arg)	Severe	Right frontal subdural hematoma.	Liang et al 2013

Structural Interpretation:

Please click HERE for in-depth variant analysis.

Undefined cDNA (F403I)

p.Phe403Ile (Legacy AA No. 363)

Mutation Type:

Point

Domain:

Serine protease

Location:

Exon 8

Mutation Effect:

Missense

Codon Change:

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Herrmann et al 2006

Patient Information: Show

Structural Interpretation:

Please click HERE for in-depth variant analysis.

Undefined cDNA - deletion (D408del)

p.Asp408del-

Mutation Type:

Deletion

Domain:

Serine protease

Location:

Exon 8

Mutation Effect:

Inframe

Codon Change:

delGAC

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Zhou et al 2013
Mutant FX lacks catalytic activity due to conformational change and reduced affintiy for Na+ binding. Note: Zhou et al 2013 refer to this variant as Asp409del, but according to HGVS nomenclature this variant is instead Asp408del.

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
405	36	M	Chinese	0.22	53.36	Heterozygous	IVS5+1G>A ( )	Severe	Epistaxis, gum bleeding. Related to pa_id: 406-410.	Zhou et al 2013
407		M	Chinese	0.22	53.79	Heterozygous	IVS5+1G>A ( )	Not Reported	Epistaxis, gum bleeding. Related to pa_id: 405, 406, 408, 409 & 410.	Zhou et al 2013
410		F	Chinese	71.73	101.41	Heterozygous		Not Reported	No bleeding history. Related to pa_id: 405-409.	Zhou et al 2013

Structural Interpretation:

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

Undefined cDNA (S419K)

p.Ser419Lys (Legacy AA No. 379)

Mutation Type:

Point

Domain:

Serine protease

Location:

Exon 8

Mutation Effect:

Missense

Codon Change:

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Herrmann et al 2006

Patient Information: Show

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1A>G

p.Met1Val (Legacy AA No. -40)

Mutation Type:

Point

Domain:

Pre-pro leader

Location:

Exon 1

Mutation Effect:

Missense

Codon Change:

A>G

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

31396

Allele Frequency *:

0.000032

References and Comments:

Miyata et al 1998
Variant eliminates ATG start codon preventing the initiation of FX translation (FX Nice I).

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:C (IU/dl)	FX:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
1	12	F		4		7	Heterozygous	c.792C>T (p.Thr264=)c.1030C>T (p.Pro344Ser)	Asymptomatic	No history of bleeding. Related to pa_id: 2 & 3.	Miyata et al 1998
149	11	F	British		<1		Homozygous		Severe	History of severe bleeding.	Mitchell et al 2019
2		M		44		48	Heterozygous		Not Reported	Related to pa_id: 1.	Miyata et al 1998

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.8_9delGC

Mutation Type:

Deletion

Domain:

Pre-pro leader

Location:

Exon 1

Mutation Effect:

Frameshift

Codon Change:

delGC

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Au et al 2004
Frameshift mutation results in premature stop codon at residue 45. Truncated protein product is non-functional. Legacy cDNA numbering in paper - unknown origin (c.33_34delGC)

Patient Information: Show

Structural Interpretation:

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

c.19C>A

p.Leu7Ile (Legacy AA No. -34)

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 *:

279678

Allele Frequency *:

0.000025

References and Comments:

Camire et al 2001; Uprichard & Perry 2002

Patient Information: Show

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.22G>T

p.Val8Phe (Legacy AA No. -33)

Mutation Type:

Point

Domain:

Pre-pro leader

Location:

Exon 1

Mutation Effect:

Missense

Codon Change:

G>T

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Mota et al 2010
Variant likely damages protein function.

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
17	40	F	Indian	<1		6		Heterozygous		Severe	Menorrhagia, bad obstetric history.	Mota et al 2010
19	10	F	Indian	<1				Heterozygous	c.792C>T (p.Thr264=)c.1066C>T (p.Gln356*)	Severe	Hemarthrosis, spontaneous bleeds.	Mota et al 2010

Structural Interpretation:

Please click HERE for in-depth variant analysis.

1 2 3 4

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:

Patient Information: Show

Structural Interpretation:

References and Comments:

Patient Information: Show

Structural Interpretation:

References and Comments:

Patient Information: Show

Structural Interpretation:

References and Comments:

Patient Information: Show

Structural Interpretation:

References and Comments:

Patient Information: Show

Structural Interpretation:

References and Comments:

Patient Information: Show

Structural Interpretation:

References and Comments:

Patient Information: Show

Structural Interpretation:

References and Comments:

Patient Information: Show

Structural Interpretation:

References and Comments:

Patient Information: Show

Structural Interpretation:

References and Comments:

Patient Information: Show

Structural Interpretation:

References and Comments:

Patient Information: Show

Structural Interpretation:

References and Comments:

Patient Information: Show

Structural Interpretation:

References and Comments:

Patient Information: Show

Structural Interpretation:

References and Comments:

Patient Information: Show

Structural Interpretation:

References and Comments:

Patient Information: Show

Structural Interpretation:

References and Comments:

Patient Information: Show

Structural Interpretation:

References and Comments:

Patient Information: Show

Structural Interpretation:

References and Comments:

Patient Information: Show

Structural Interpretation:

References and Comments:

Patient Information: Show

Structural Interpretation:

References and Comments:

Patient Information: Show

Structural Interpretation:

References and Comments:

Patient Information: Show

Structural Interpretation:

References and Comments:

Patient Information: Show

Structural Interpretation:

References and Comments:

Patient Information: Show

Structural Interpretation:

References and Comments:

Patient Information: Show

Structural Interpretation:

References and Comments:

Patient Information: Show

Structural Interpretation:

UNIQUE (Without Patient Data) :

EXCEL/CSV

TABULAR

MULTIPLE (With Patient Data) :

EXCEL/CSV

TABULAR