Case ID: 814 |
FVII:C% | Human | Rabbit | Unknown |
---|---|---|---|---|
15 | 15 | |||
FVII:Ag% | UK | |||
Reported Clinical Severity | Asymptomatic | |||
Comments | ||||
Reference | Davidson et al 2010 | 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 | |||||||||||
172 | 1 | Heterozygous | Point | Missense | Exon 3 | c.178C>G | 60 | -1 | p.Arg60Gly | Propeptide |