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Case ID: 487 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 7% (afte PFC infusion) | ||||
| FVII:Ag% | 6% (after PFC infusion) | |||
| Reported Clinical Severity | severe | |||
| Comments | ||||
| Reference | Giansily-Blaizot et al 2012 | 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 | |||||||||||
| 133 | 1 | Homozygous | Deletion | Promoter | 5' Flanking | c.-60_-59delTT | 0 | 0 | promoter | |||