Factor VII Variant Database
Case
ID: 492
FVII:C% Human Rabbit Unknown
30
FVII:Ag% UK
Reported Clinical Severity Asymptomatic
Comments
Reference Herrmann et al 2000
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
70 6 8.3E-6 Heterozygous Point Missense Exon 8 c.796G>A GCG>ACG 266 206 p.Ala266Thr Serine Protease
73 10 0.012 Heterozygous Point Intronic Intron 8 c.805+7A>G ggta>ggtg 0 0