Factor X Variant Database
ID: 483
FX:C% (extrinsic)
FX:C% (intrinsic)
FX:C% (unknown method) 50
Reported Bleeding Severity Asymptomatic
Case Gender Not Reported
Comments on Case
Functional Analysis
Analysis Type
Reference Pavlova et al 2015

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) Heterozygous Point Missense Exon 5 c.424G>A GAG AAG 142 102 p.(Glu142Lys) EGF2