Factor VII Variant Database
Case
ID: 225
FVII:C% Human Rabbit Unknown
<1
FVII:Ag%
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 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
58 14 Heterozygous Point Missense Exon 7 c.635G>A CGA>CAA 212 152 p.Arg212Gln Activation 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
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