Factor X Variant Database
ID: 480
FX:C% (extrinsic)
FX:C% (intrinsic)
FX:C% (unknown method) 25
Reported Bleeding Severity Not Reported
Case Gender Not Reported
Comments on CaseBoth variants likely to be on same allele
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
139 1 TBA May be a polymorphism (Pavlova 2015) Heterozygous Point Missense Exon 8 c.1107G>T GAG GAT 369 329 p.(Glu369Asp) Serine Protease
140 1 TBA Heterozygous Point Nonsense Exon 8 c.1108A>T AAG TAG 370 330 p.(Lys370*) Serine Protease