Factor VII Variant Database
Case
ID: 213
FVII:C% Human Rabbit Unknown
08-Dec
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
9 2 Heterozygous Point Nonsense Exon 1 c.10C>T CAG>TAG 4 -57 p.Gln4* Signal Peptide
94 100 0.0007488 Heterozygous Point Missense Exon 9 c.1061C>T GCC>GTC 354 294 p.Ala354Val Serine Protease
125 59 Heterozygous Deletion Frameshift Exon 9 c.1391delC delC 464 404 p.Pro464Hisfs*32 Serine Protease
990 89 0.31 Homozygous Indel Intronic Exon 8 c.795_805+26[7] 0 0 Serine Protease