Factor X Variant Database
Variant
ID: 135
Type Point
Effect Missense
cDNA Change c.1096C>T
Amino Acid Change p.(Arg366Cys) (Legacy AA No. 326)
Domain Serine Protease
Sequence Context CGC > TGC
Location Exon 8
Minor Allele Frequency (MAF) 4.0E-6
Pathogenicity (ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic
Comments on Variant FX San Antonio

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
4
1
Heterozygous 14 36 Mild Not Reported Reddy et al 1989 Postoperative bleeding; probable compound heterozygote