Factor X Variant Database
Case
ID: 348
FX:C% (extrinsic)
FX:C% (intrinsic) <1
FX:C% (RVV)
FX:C% (unknown method)
FX:Ag%
Reported Bleeding Severity Moderate
Case Gender Female
Comments on Casegum bleeds; haematomas; menorrhagia; post-delivery bleeds; parents first cousins
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): 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
53 3 Asp103 is post-translationally modified to beta-hydroxyaspartate in WT FX Homozygous Point Missense Exon 4 c.307G>C GAC CAC 103 63 p.(Asp103His) EGF1