|
Variant ID: 30 |
cDNA Change | c.317-1G>A |
|---|---|---|
| Amino Acid Change | Splice Junction (Legacy AA No. 0) | |
| Type | Point | |
| Effect | Intronic | |
| Domain | ||
| Sequence Context | ||
| Location | Intron( 4) | |
| 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 | |||||||
| 219 | 8 | Heterozygous | 1 | severe | Wulff et al 2000 | ||||
| 570 | 2 | Heterozygous | 1 | UK | Severe | Herrmann et al 2009 | |||
| 580 | 2 | Heterozygous | 1 | UK | Severe | Herrmann et al 2009 | |||