Case ID: 393 |
FVII:C% | Human | Rabbit | Unknown |
---|---|---|---|---|
21 | 14 | 124 bovine | ||
FVII:Ag% | ||||
Reported Clinical Severity | asymptomatic | |||
Comments | ||||
Reference | Shurafa et al 1993 | 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 | |||||||||||
101 | 59 | 0.000519 | Homozygous | Point | Missense | Exon 9 | c.1091G>A | CGG>CAG | 364 | 304 | p.Arg364Gln | Serine Protease |