Case ID: 766 |
FVII:C% | Human | Rabbit | Unknown |
---|---|---|---|---|
13 | ||||
FVII:Ag% | 11 | |||
Reported Clinical Severity | Asymptomatic | |||
Comments | ||||
Reference | Suzuki et al 2013 | 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 | |||||||||||
11 | 3 | Heterozygous | Point | Missense | Exon 1 | c.38T>C | CTT>CCT | 13 | -48 | p.Leu13Pro | Signal Peptide | |
218 | 1 | Heterozygous | Point | Nonsense | Exon 9 | c.882C>G | 294 | 234 | p.Tyr294* | Serine Protease |