Factor VII Variant Database
Case
ID: 467
FVII:C% Human Rabbit Unknown
20
FVII:Ag% UK
Reported Clinical Severity
Comments
Reference Marty et al 2008
Common Variant Sites tested and found to be as per the reference sequence in both alleles

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