Factor X Variant Database
Variant
ID: 139
Type Point
Effect Missense
cDNA Change c.1107G>T
Amino Acid Change p.(Glu369Asp) (Legacy AA No. 329)
Domain Serine Protease
Sequence Context GAG > GAT
Location Exon 8
Minor Allele Frequency (MAF)
Pathogenicity (ACMG)Definition Variant is: 1=Benign, 2=Likely Benign, 3=Unknown Significance (VUS), 4=Likely Pathogenic, 5=Pathogenic TBA
Comments on Variant May be a polymorphism (Pavlova 2015)

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
480
1
Heterozygous 25 Not Reported Not Reported Pavlova et al 2015 Both variants likely to be on same allele