Case ID: 686 |
FVII:C% | Human | Rabbit | Unknown |
---|---|---|---|---|
21 | ||||
FVII:Ag% | UK | |||
Reported Clinical Severity | Mild | |||
Comments | ||||
Reference | Jayandharan et al 2007 | 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 | |||||||||||
227 | 1 | Homozygous | Point | Missense | Exon 3 | c.178C>T | 60 | -1 | p.Arg60Cys | Propeptide |