Factor VII Variant Database new
Case
ID: 722
FVII:C% Human Rabbit Unknown
0_<2 0_<2
FVII:Ag% UK
Reported Clinical Severity Severe
Comments
Reference Fromovich-Amit et al 2004
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
179 3 Homozygous Point Intronic Intron 3 c.291+1G>C 0 0 Gla