|
Case ID: 466 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 49 | ||||
| FVII:Ag% | UK | |||
| Reported Clinical Severity | ||||
| Comments | ||||
| Reference | Marty et al 2008 | 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 | |||||||||||
| 73 | 10 | 0.012 | Homozygous | Point | Intronic | Intron 8 | c.805+7A>G | ggta>ggtg | 0 | 0 | ||