Factor X Variant Database
Case
ID: 157
FX:C% (extrinsic) 25
FX:C% (intrinsic) 30
FX:C% (RVV) 28
FX:C% (unknown method)
FX:Ag% 28
Reported Bleeding Severity Severe
Case Gender Male
Comments on Case NB baseline FX:C (PT) <1%; treated 4-6 days before sample collection; chromogenic FX:C 37%; consanguinous parents
Functional Analysis
Analysis Type
Reference Peyvandi et al 2002A

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
57 8 TBA Abolishes Cys112-Cys121 disulphide link in EGF1 Homozygous Point Missense Exon 4 c.362G>A TGT TAT 121 81 p.(Cys121Tyr) EGF1