Factor VII Variant Database
Case
ID: 188
FVII:C% Human Rabbit Unknown
35
FVII:Ag%
Reported Clinical Severity unknown
Comments
Reference Wulff et al 2000
Common Variant Sites tested and found to be as per the reference sequence in both alleles 996(A1A1) 993(G1G1) 999(H1H1) 998(M1M1) 995(P1P1)

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
49 56 0.0001376 Heterozygous Point Missense Exon 6 c.479A>G CAG>CGG 160 100 p.Gln160Arg EGF2
990 89 0.31 Heterozygous Indel Intronic Exon 8 c.795_805+26[7] 0 0 Serine Protease