Factor X Variant Database
ID: 555
FX:C% (extrinsic)
FX:C% (intrinsic)
FX:C% (unknown method) 35
FX:Ag% 43
Reported Bleeding Severity Asymptomatic
Case Gender Female
Comments on CaseAlso has heterozygous F7 Arg413Gln (paternal) with FVII:C/Ag 42/45%
Functional Analysis Yes
Analysis Type Molecular modelling
Reference Jin et al 2018

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
56 3 8.0E-6 TBA Abolishes Cys112-Cys121 disulphide link in EGF1 domain Heterozygous Maternal Point Missense Exon 4 c.361T>C TGT CGT 121 81 p.(Cys121Arg) EGF1