Factor X Variant Database
Case
ID: 202
FX:C% (extrinsic)
FX:C% (intrinsic)
FX:C% (RVV)
FX:C% (unknown method) 10
FX:Ag% 42
Reported Bleeding Severity Severe
Case Gender Male
Comments on Casealso has homozygous FVII C370F (<1% FVII:C) which is likely clinically contributory; severe lifelong bleeding symptoms including muscle haematomas and frequent haemorrhages; consanguineous parents
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)Definition Variant is: 1=Benign, 2=Likely Benign, 3=Unknown Significance (VUS), 4=Likely Pathogenic, 5=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 TBA Homozygous Point Missense Exon 2 c.128C>G TCC TGC 43 3 p.(Ser43Cys) Gla