Factor X Variant Database
Case
ID: 248
FX:C% (extrinsic) 36
FX:C% (intrinsic)
FX:C% (RVV)
FX:C% (unknown method)
FX:Ag%
Reported Bleeding Severity Moderate
Case Gender Female
Comments on Casevariable symptoms: haematomas; menorrhagia
Functional Analysis
Analysis Type
Reference Herrmann et al 2006

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
63 11 0.004489 TBA FX Vienna 2: recombinant variant shows only minor functional defect (Forberg 2000): not thought pathogenic (Watzke 1990) Homozygous Point Missense Exon 5 c.424G>A GAG AAG 142 102 p.(Glu142Lys) EGF2