Factor X Variant Database
Variant
ID: 23
Type Point
Effect Missense
cDNA Change c.128C>G
Amino Acid Change p.(Ser43Cys) (Legacy AA No. 3)
Domain Gla
Sequence Context TCC > TGC
Location Exon 2
Minor Allele Frequency (MAF)
Pathogenicity (ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic
Comments on Variant

For missense variants click here to view amino-acid sequence comparison.

The details of the cases reported with the above variant are listed below

Case ID Other Variants
found in case
Genotype FX:C (%) intrinsic FX:C (%) extrinsic FX:C (%) RVV FX:C (%) unknown FX:Ag (%) Reported
Bleeding Severity
Gender of Case Published Reference Comments on Case
205
-
Heterozygous 75 83 Not Reported Female Menegatti et al 2004 also has heterozygous FVII C370F 75% FVII:C); father of cases 202 and 203; consanguineous marriage
204
-
Heterozygous 56 67 Not Reported Male Menegatti et al 2004 also has heterozygous FVII C370F (39% FVII:C); mother of cases 202 and 203; consanguineous marriage
203
-
Homozygous 19 54 Severe Female Menegatti et al 2004 also has homozygous FVII C370F (<1% FVII:C) which is likely clinically contributory; recurrent episodes of epistaxis and menorrhagia requiring transfusions; consanguineous parents
202
-
Homozygous 10 42 Severe Male Menegatti et al 2004 also has homozygous FVII C370F (<1% FVII:C) which is likely clinically contributory; severe lifelong bleeding symptoms including muscle haematomas and frequent haemorrhages; consanguineous parents