|
Case ID: 404 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 34 | ||||
| FVII:Ag% | 40 | |||
| Reported Clinical Severity | asymptomatic | |||
| Comments | ||||
| Reference | Takamiya et al 1995 | Common Variant Sites tested and found to be as per the reference sequence in both alleles | 996(A1A1) 998(M1M1) | |
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 | |||||||||||
| 109 | 2 | Heterozygous | Point | Missense | Exon 9 | c.1196C>G | TCC>TGC | 399 | 339 | p.Ser399Cys | Serine Protease | |