Factor X Variant Database
ID: 486
FX:C% (extrinsic)
FX:C% (intrinsic)
FX:C% (unknown method)
Reported Bleeding Severity Not Reported
Case Gender Not Reported
Comments on Case
Functional Analysis
Analysis Type
Reference Rath et al 2015

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
137 1 TBA Not Reported Point Missense Exon 8 c.1105G>A GAG AAG 369 329 p.(Glu369Lys) Serine Protease