Factor VII Variant Database
Case
ID: 11
FVII:C% Human Rabbit Unknown
27
FVII:Ag% 35
Reported Clinical Severity asymptomatic
Comments
Reference Bernardi et al 1993
Common Variant Sites tested and found to be as per the reference sequence in both alleles 996(A1A1)

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
46 5 2.61E-5 Heterozygous Point Missense Exon 6 c.469G>A GGC>AGC 157 97 p.Gly157Ser EGF2
990 89 0.31 Heterozygous Indel Intronic Exon 8 c.795_805+26[7] 0 0 Serine Protease
998 116 0.1341 Homozygous Point Missense Exon 9 c.1238G>A CGG>CAG 413 353 p.Arg413Gln Serine Protease
999 64 0.1419 Homozygous Point Silent Exon 6 c.525C>T CAC>CAT 175 115 p.His175= EGF2