Case ID: 801 |
FVII:C% | Human | Rabbit | Unknown |
---|---|---|---|---|
23 | ||||
FVII:Ag% | UK | |||
Reported Clinical Severity | Moderate | |||
Comments | ||||
Reference | Elmahmoudi et al 2012 | 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 | |||||||||||
150 | 1 | Heterozygous | Point | Missense | Exon 9 | c.1163T>A | 388 | 328 | p.Phe388Tyr | Serine Protease |