Factor VII Variant Database
Case
ID: 751
FVII:C% Human Rabbit Unknown
<1
FVII:Ag% <1
Reported Clinical Severity Mild
Comments
Reference D'Andrea 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
51 4 8.5E-6 Heterozygous Point Missense Exon 6 c.508C>T CGC>TGC 170 110 p.Arg170Cys EGF2
192 1 Heterozygous Point Missense Exon 6 c.547G>T 183 123 p.Asp183Tyr EGF2