Factor X Variant Database
Case
ID: 204
FX:C% (extrinsic)
FX:C% (intrinsic)
FX:C% (RVV)
FX:C% (unknown method) 56
FX:Ag% 67
Reported Bleeding Severity Not Reported
Case Gender Male
Comments on Casealso has heterozygous FVII C370F (39% FVII:C); mother of cases 202 and 203; consanguineous marriage
Functional Analysis
Analysis Type
Reference Menegatti et al 2004

The details of the variants found in this case are listed below

Variant ID No. of Cases Minor Allele Frequency Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic Comments on individual Variant Genotype of Variant Heterozygous Allele Type Effect Location in gene Variant (cDNA) Sequence Context Amino Acid No Protein Change Protein Domain
HGVS Legacy
23 4 Heterozygous Point Missense Exon 2 c.128C>G TCC TGC 43 3 p.(Ser43Cys) Gla