Factor X Variant Database
Case
ID: 78
FX:C% (extrinsic) 56
FX:C% (intrinsic)
FX:C% (RVV)
FX:C% (unknown method)
FX:Ag% 68
Reported Bleeding Severity Not Reported
Case Gender Not Reported
Comments on CaseSibling of case 76
Functional Analysis
Analysis Type
Reference Forberg et al 2000

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
30 14 FX Vorarlberg; FX Vienna 2; WT AA 54 gamma-carboxylation (Gla) is functionally important; purified protein has full activity in intrinsic activation, only 15% in extrinsic; decreased affinity for Ca2+ Heterozygous Point Missense Exon 2 c.160G>A GAA AAA 54 14 p.(Glu54Lys) Gla
63 11 0.004489 FX Vienna 2: recombinant variant shows only minor functional defect (Forberg 2000): not thought pathogenic (Watzke 1990) Heterozygous Point Missense Exon 5 c.424G>A GAG AAG 142 102 p.(Glu142Lys) EGF2