Factor X Variant Database
ID: 349
FX:C% (extrinsic)
FX:C% (intrinsic) 65
FX:C% (unknown method)
Reported Bleeding Severity Asymptomatic
Case Gender Male
Comments on Casefather of case 348
Functional Analysis
Analysis Type
Reference Karimi et al 2008

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
53 3 TBA Asp103 is post-translationally modified to beta-hydroxyaspartate in WT FX Heterozygous Point Missense Exon 4 c.307G>C GAC CAC 103 63 p.(Asp103His) EGF1