Factor VII Variant Database
Case
ID: 700
FVII:C% Human Rabbit Unknown
<1
FVII:Ag% 95
Reported Clinical Severity Mild
Comments
Reference Mota et al 2009
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
153 1 Homozygous Point Missense Exon 9 c.1194C>G 398 338 p.Asp398Glu Serine Protease