Factor VII Variant Database
Case
ID: 801
FVII:C% Human Rabbit Unknown
23
FVII:Ag% UK
Reported Clinical Severity Moderate
Comments
Reference Elmahmoudi et al 2012
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
150 1 Heterozygous Point Missense Exon 9 c.1163T>A 388 328 p.Phe388Tyr Serine Protease