Factor VII Variant Database
Case
ID: 434
FVII:C% Human Rabbit Unknown
4.4
FVII:Ag% 38.5
Reported Clinical Severity Moderate
Comments
Reference Yu 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
106 14 4.23E-5 Heterozygous Point Missense Exon 9 c.1165T>G TGT>GGT 389 329 p.Cys389Gly Serine Protease
194 7 8.3E-6 Heterozygous Point Intronic Intron 6 c.572-1G>A 0 0