|
Variant ID: 217 |
cDNA Change | c.859C>T |
|---|---|---|
| Amino Acid Change | p.Gln287* (Legacy AA No. 227) | |
| Type | Point | |
| Effect | Nonsense | |
| Domain | Serine Protease | |
| Sequence Context | TAG > CAG | |
| Location | Exon( 9) | |
| 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 | |||||||
| 684 | 1 | Homozygous | <1 | UK | Severe | Jayandharan et al 2007 | |||
| 689 | 1 | Homozygous | <1 | UK | Severe | Jayandharan et al 2007 | |||
| 690 | 1 | Homozygous | <1 | UK | Severe | Jayandharan et al 2007 | |||