Factor X Variant Database
Variant
ID: 138
Type Point
Effect Missense
cDNA Change c.1106A>G
Amino Acid Change p.(Glu369Gly) (Legacy AA No. 329)
Domain Serine Protease
Sequence Context GAG > GGG
Location Exon 8
Minor Allele Frequency (MAF)
Pathogenicity (ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic
Comments on Variant

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
292
-
Heterozygous c.50 Asymptomatic Not Reported Herrmann et al 2006