|
Case ID: 289 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 16 | ||||
| FVII:Ag% | 20 | |||
| Reported Clinical Severity | asymptomatic | |||
| Comments | ||||
| Reference | Millar et al 2000 | Common Variant Sites tested and found to be as per the reference sequence in both alleles | 996(A1A1) -(C1C1) 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 | |||||||||||
| 6 | 3 | Homozygous | Point | Promoter | 5' UTR | c.-30A>C | aacagg>aaccgg | 0 | 0 | promoter | ||