Factor X Variant Database
Variant
ID: 56
Type Point
Effect Missense
cDNA Change c.361T>C
Amino Acid Change p.(Cys121Arg) (Legacy AA No. 81)
Domain EGF1
Sequence Context TGT > CGT
Location Exon 4
Minor Allele Frequency (MAF) 8.0E-6
Pathogenicity (ACMG)Definition Variant is: 1=Benign, 2=Likely Benign, 3=Unknown Significance (VUS), 4=Likely Pathogenic, 5=Pathogenic TBA
Comments on Variant Abolishes Cys112-Cys121 disulphide link in EGF1 domain

For missense variants click here to view amino-acid sequence comparison.

The details of the cases reported with the above variant are listed below

Case ID Other Variants
found in case
Genotype FX:C (%) intrinsic FX:C (%) extrinsic FX:C (%) RVV FX:C (%) unknown FX:Ag (%) Reported
Bleeding Severity
Gender of Case Published Reference Comments on Case
555
-
Heterozygous 35 43 Asymptomatic Female Jin et al 2018 Also has heterozygous F7 Arg413Gln (paternal) with FVII:C/Ag 42/45%
556
-
Heterozygous 40 43 Asymptomatic Female Jin et al 2018 Mother of case 555
557
-
Heterozygous 42 47 Asymptomatic Female Jin et al 2018 Daughter of case 555