Factor VII Variant Database
Case
ID: 134
FVII:C% Human Rabbit Unknown
3
FVII:Ag% 23
Reported Clinical Severity mild
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
65 2 Heterozygous Point Missense Exon 8 c.718G>A GGG>AGG 240 180 p.Gly240Arg Serine Protease
101 59 0.000519 Heterozygous Point Missense Exon 9 c.1091G>A CGG>CAG 364 304 p.Arg364Gln Serine Protease
994 45 0.1342 Heterozygous Point Intronic Intron 8 c.806-20G>A 0 0
996 80 0.23 Heterozygous Insertion Promoter 5' Flanking c.-325_-324insCCTATATCCT 0 0
998 116 0.1341 Heterozygous 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