Data Export Options:


UNIQUE (Without Patient Data) :
MULTIPLE (With Patient Data) :



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



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: 
0
Phenotype: 
U
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: 
1
Phenotype: 
U
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.-40C>T
-
Mutation Type: 
Point
Domain: 
Undefined
Location: 
Mutation Effect: 
Missense
Codon Change: 
C>T
No. of Patients Reported: 
6
Phenotype: 
U
Allele Count *: 
7737
Allele Number *: 
276020
Allele Frequency *: 
0.028031

References and Comments:

Mota et al 2010
Polymorphism.

Patient Information: Show


Structural Interpretation:

Structural analysis cannot be performed on this (Point | Missense) 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: 
0
Phenotype: 
U
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: 
1
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


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: 
3
Phenotype: 
I
Allele Count *: 
1
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


Structural Interpretation:

Structural analysis cannot be performed on this (Deletion | Frameshift) 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: 
0
Phenotype: 
I
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 2)
-
Mutation Type: 
Deletion
Domain: 
Gla domain
Location: 
Exon 2
Mutation Effect: 
Codon Change: 
Deletion exon 2
No. of Patients Reported: 
1
Phenotype: 
U
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-

References and Comments:

Mitchell et al 2019

Patient Information: Show


Structural Interpretation:

Structural analysis cannot be performed on this (Deletion | ) 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: 
2
Phenotype: 
U
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-

References and Comments:

Pavlova et al 2015

Patient Information: Show


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: 
1
Phenotype: 
U
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


Structural Interpretation:

Structural analysis cannot be performed on this (Point | Splice site) 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: 
4
Phenotype: 
I
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-

References and Comments:

Wieland et al 1991

Patient Information: Show


Structural Interpretation:

Structural analysis cannot be performed on this (Deletion | ) 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: 
1
Phenotype: 
I
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-

References and Comments:

Peyvandi et al 2002
Variant reduces splicing efficiency.

Patient Information: Show


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: 
3
Phenotype: 
I
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


Structural Interpretation:

Structural analysis cannot be performed on this (Deletion | Inframe) 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: 
5
Phenotype: 
I
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


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: 
2
Phenotype: 
U
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


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: 
2
Phenotype: 
I
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


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: 
4
Phenotype: 
I
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-

References and Comments:

Wieland et al 1991
Deletion of entire FX gene.

Patient Information: Show


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: 
1
Phenotype: 
I
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


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: 
3
Phenotype: 
I
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


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: 
2
Phenotype: 
U
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-

References and Comments:

Pavlova et al 2015

Patient Information: Show


Structural Interpretation:

Structural analysis cannot be performed on this (Deletion | ) 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: 
0
Phenotype: 
U
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: 
2
Phenotype: 
I
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-

References and Comments:

Liang et al 2013
Variant impairs FX secretion.

Patient Information: Show


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: 
0
Phenotype: 
U
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: 
0
Phenotype: 
II
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: 
0
Phenotype: 
U
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: 
15
Phenotype: 
II
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


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: 
0
Phenotype: 
U
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: 
1
Phenotype: 
I
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


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: 
1
Phenotype: 
I
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


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: 
0
Phenotype: 
U
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: 
0
Phenotype: 
I
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: 
0
Phenotype: 
U
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: 
0
Phenotype: 
II
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: 
1
Phenotype: 
I
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-

References and Comments:

Liang et al 2013

Patient Information: Show


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: 
3
Phenotype: 
None
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-

References and Comments:

Mota et al 2010
Polymorphism. Silent mutation.

Patient Information: Show


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: 
0
Phenotype: 
U
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: 
0
Phenotype: 
I
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: 
0
Phenotype: 
I
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: 
0
Phenotype: 
U
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: 
2
Phenotype: 
I
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


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: 
0
Phenotype: 
U
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: 
0
Phenotype: 
U
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: 
1
Phenotype: 
I
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-

References and Comments:

Liang et al 2013

Patient Information: Show


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: 
0
Phenotype: 
U
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: 
3
Phenotype: 
I
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


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: 
0
Phenotype: 
U
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: 
3
Phenotype: 
I
Allele Count *: 
1
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


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: 
0
Phenotype: 
I
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: 
0
Phenotype: 
U
Allele Count *: 
7
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: 
2
Phenotype: 
I
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-

References and Comments:

Mota et al 2010
Variant likely damages protein function.

Patient Information: Show


Structural Interpretation:

Please click HERE for in-depth variant analysis.




Factor X Variant Database