|
Case ID: 147 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 48 | ||||
| FVII:Ag% | 48 | |||
| Reported Clinical Severity | asymptomatic | |||
| Comments | ||||
| Reference | Bernardi et al 1994a | |||
| Common Variant Sites tested and found to be as per the reference sequence in both alleles | 996(A1A1) 998(M1M1) 990(V6/V6) | |||
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 |
|||||||||||
| 117 | 3 | Heterozygous | Point | Nonsense | Exon 9 | c.1247G>A | TGG>TAG | 416 | 356 | p.Trp416* | Serine Protease | |