|
Variant ID: 995 |
cDNA Change | c.-122T>C |
|---|---|---|
| Amino Acid Change | (Legacy AA No. 0) | |
| Type | Point | |
| Effect | Promoter | |
| Domain | ||
| Sequence Context | ||
| Location | Flanking( 5') | |
| Minor Allele Frequency (MAF) | 0.1436 |
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 | |||||||
| 10 | 9 | Homozygous | 14-40 | asymptomatic | Wulff et al 2000 | ||||
| 102 | 7 | Homozygous | 3 | 4 | unknown | Wulff et al 2000 | |||
| 238 | 7 | Heterozygous | 15 | 60 | asymptomatic | Wulff et al 2000 | |||
| 243 | 7 | Heterozygous | 18 | 74 | unknown | Wulff et al 2000 | other lesion unknown | ||
| 328 | 8 | Homozygous | 9 | 31 | mild | Wulff et al 2000 | |||