Factor VII Variant Database
Case
ID: 192
FVII:C% Human Rabbit Unknown
<1
FVII:Ag% 8
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 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
47 4 Heterozygous Point Missense Exon 6 c.469G>T GGC>TGC 157 97 p.Gly157Cys EGF2
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
994 45 0.1342 Heterozygous Point Intronic Intron 8 c.806-20G>A 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