Factor VII Variant Database
Case
ID: 344
FVII:C% Human Rabbit Unknown
3
FVII:Ag% 10
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

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
64 2 Heterozygous Point Missense Exon 8 c.715G>C GGG>CGG 239 179 p.Gly239Arg Serine Protease
80 38 0.0001515 Heterozygous Point Missense Exon 9 c.911C>T GCG>GTG 304 244 p.Ala304Val Serine Protease
994 45 0.1342 Homozygous Point Intronic Intron 8 c.806-20G>A 0 0
996 80 0.23 Homozygous Insertion Promoter 5' Flanking c.-325_-324insCCTATATCCT 0 0
998 116 0.1341 Homozygous Point Missense Exon 9 c.1238G>A CGG>CAG 413 353 p.Arg413Gln Serine Protease
999 64 0.1419 Heterozygous Point Silent Exon 6 c.525C>T CAC>CAT 175 115 p.His175= EGF2