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Case ID: 184 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 1.1 | ||||
| FVII:Ag% | 1 | |||
| Reported Clinical Severity | severe | |||
| Comments | ||||
| Reference | Bernardi et al 1993 | Common Variant Sites tested and found to be as per the reference sequence in both alleles | 996(A1A1) 999(H1H1) 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 | |||||||||||
| 72 | 9 | Homozygous | Point | Intronic | Intron 8 | c.805+5G>A | ggta>gata | 0 | 0 | |||