Factor VII Variant Database new
Case
ID: 627
FVII:C% Human Rabbit Unknown
UK
FVII:Ag% UK
Reported Clinical Severity Asymptomatic
Comments
Reference Herrmann 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
74 8 4.4E-5 Heterozygous Point Missense Exon 9 c.814G>A GAC>AAC 272 212 p.Asp272Asn Serine Protease