Factor X Variant Database
ID: 622
FX:C% (extrinsic) 2
FX:C% (intrinsic)
FX:C% (unknown method)
FX:Ag% 11
Reported Bleeding Severity Mild
Case Gender Female
Comments on CaseSister of case 621: frequent spontaneous epistaxis
Functional Analysis Yes
Analysis Type Recombinant variant expression; functional analysis and molecular modelling
Reference Zhang et al 2020

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
131 9 TBA Defective secretion and function of recombinant variant (Zhang 2020) Homozygous Point Missense Exon 8 c.1085G>A AGC AAC 362 322 p.(Ser362Asn) Serine Protease