|
Variant ID: 132 |
cDNA Change | c.-65G>C |
|---|---|---|
| Amino Acid Change | (Legacy AA No. 0) | |
| Type | Point | |
| Effect | Promoter | |
| Domain | promoter | |
| Sequence Context | ||
| Location | Flanking( 5') | |
| Minor Allele Frequency (MAF) |
The details of the cases reported with the above variant is as below
| Case ID | Other Variants found in case | Genotype | FVII:C (%) | FVII:Ag (%) | Reported Clinical Severity | Reference | Comments | ||
|---|---|---|---|---|---|---|---|---|---|
| TF-Unknown | TF-Human | TF-Rabbit | |||||||
| 486 | 1 | Homozygous | <1% | <1% | severe | Giansily-Blaizot et al 2012 | |||