Factor VII Variant Database
Case
ID: 371
FVII:C% Human Rabbit Unknown
<1
FVII:Ag% 25
Reported Clinical Severity severe
Comments
Reference Giansily-Blaizot et al 2001
Common Variant Sites tested and found to be as per the reference sequence in both alleles 999(H1H1) 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
18 1 Heterozygous Point Missense Exon 3 c.226G>A GAG>AAG 76 16 p.Glu76Lys Gla
29 1 Heterozygous Point Intronic Intron 4 c.316+5G>A TGgtgag>Tggtgaa 0 0
990 89 0.31 Heterozygous Indel Intronic Exon 8 c.795_805+26[7] 0 0 Serine Protease
996 80 0.23 Heterozygous Insertion Promoter 5' Flanking c.-325_-324insCCTATATCCT 0 0