Factor VII Variant Database
Case
ID: 130
FVII:C% Human Rabbit Unknown
2
FVII:Ag% 72
Reported Clinical Severity asymptomatic
Comments
Reference Giansily-Blaizot et al 2001
Common Variant Sites tested and found to be as per the reference sequence in both alleles 996(A1A1) 999(H1H1) 990(V6/V6) 994(I1I1) 998(M1M1)

The details of the variants found in this patient are listed below

Variant ID No. of Cases MAF* Genotype Type Effect Location in gene Mutation (cDNA) Sequence Context Amino Acid Protein Change Domain
HGVS Legacy
101 59 0.000519 Homozygous Point Missense Exon 9 c.1091G>A CGG>CAG 364 304 p.Arg364Gln Serine Protease