Factor X Variant Database
ID: 37
FX:C% (extrinsic) 20
FX:C% (intrinsic) 56
FX:C% (RVV) 54
FX:C% (unknown method)
FX:Ag% 72
Reported Bleeding Severity Asymptomatic
Case Gender Male
Comments on CaseBrother of case 38
Functional Analysis Yes
Analysis Type molecular modelling
Reference Marchetti et al 1995

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
63 11 0.004489 TBA FX Vienna 2: recombinant variant shows only minor functional defect (Forberg 2000): not thought pathogenic (Watzke 1990) Heterozygous Point Missense Exon 5 c.424G>A GAG AAG 142 102 p.(Glu142Lys) EGF2
141 19 TBA FX Marsiglia (aka Marseille): suggested circulation of dysfunctional variant (Vianello 2001); defective activation by FIXa or RVV (Bezeaud 1995) Heterozygous Point Missense Exon 8 c.1120T>C TCC CCC 374 334 p.(Ser374Pro) Serine Protease