Factor X Variant Database
Case
ID: 241
FX:C% (extrinsic) 23
FX:C% (intrinsic)
FX:C% (RVV)
FX:C% (unknown method)
FX:Ag% 15
Reported Bleeding Severity Asymptomatic
Case Gender Female
Comments on Caseno bleeding symptoms
Functional Analysis
Analysis Type
Reference Herrmann et al 2006

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
9 1 Homozygous Point Missense Exon 1 c.26T>C CTG CCG 9 -32 p.(Leu9Pro) Signal Peptide