Case ID: 17 |
FVII:C% | Human | Rabbit | Unknown |
---|---|---|---|---|
<1 | ||||
FVII:Ag% | 18 | |||
Reported Clinical Severity | asymptomatic | |||
Comments | ||||
Reference | Takamiya 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 | |||||||||||
56 | 1 | Heterozygous | Point | Missense | Exon 7 | c.589A>G | AAA>GAA | 197 | 137 | p.Lys197Glu | Activation Peptide |