Factor X Variant Database
ID: 424
FX:C% (extrinsic) 7
FX:C% (intrinsic) 5
FX:C% (RVV) 5
FX:C% (unknown method)
FX:Ag% 10
Reported Bleeding Severity Moderate
Case Gender Male
Comments on CaseFamily history of bleeding: chromogenic FX:C 2%; three haemorrhagic episodes: scrotal haematoma; haematuria and intramuscular haematoma
Functional Analysis Yes
Analysis Type Thrombin generation tests
Reference Liang et al 2013

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
11 2 TBA Heterozygous Point Missense Exon 1 c.34G>C GCC CCC 12 -29 p.(Ala12Pro) Signal Peptide
133 2 TBA Heterozygous Point Missense Exon 8 c.1092C>A TTC TTA 364 324 p.(Phe364Leu) Serine Protease