Factor X Variant Database
Case
ID: 292
FX:C% (extrinsic) c.50
FX:C% (intrinsic)
FX:C% (RVV)
FX:C% (unknown method)
FX:Ag%
Reported Bleeding Severity Asymptomatic
Case Gender Not Reported
Comments on Case
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
138 1 TBA Heterozygous Point Missense Exon 8 c.1106A>G GAG GGG 369 329 p.(Glu369Gly) Serine Protease