Case ID: 464 |
FVII:C% | Human | Rabbit | Unknown |
---|---|---|---|---|
50 | ||||
FVII:Ag% | UK | |||
Reported Clinical Severity | ||||
Comments | ||||
Reference | Marty et al 2008 | 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 | |||||||||||
188 | 1 | Heterozygous | Point | Missense | Exon 6 | c.451T>C | 151 | 91 | p.Cys151Arg | EGF2 |