Case ID: 473 |
FVII:C% | Human | Rabbit | Unknown |
---|---|---|---|---|
37 | ||||
FVII:Ag% | 48 | |||
Reported Clinical Severity | Asymptomatic | |||
Comments | ||||
Reference | Borhany 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 | |||||||||||
224 | 1 | Heterozygous | Point | Missense | Exon 9 | c.965G>C | 322 | 262 | p.Cys322Ser | Serine Protease |