Factor X Variant Database
Case
ID: 375
FX:C% (extrinsic)
FX:C% (intrinsic)
FX:C% (RVV)
FX:C% (unknown method) <1
FX:Ag% <1
Reported Bleeding Severity Mild
Case Gender Male
Comments on CaseEcchymoses; post-circumcision bleed
Functional Analysis
Analysis Type
Reference Mota et al 2010

The details of the variants found in this case are listed below

Variant ID No. of Cases Minor Allele Frequency Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely 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
103 1 Homozygous Point Missense Exon 7 c.854A>T AAG ATG 285 245 p.(Lys285Met) Serine Protease