|
Variant ID: 121 |
cDNA Change | c.1272G>A |
|---|---|---|
| Amino Acid Change | p.Trp424* (Legacy AA No. 364) | |
| Type | Point | |
| Effect | Nonsense | |
| Domain | Serine Protease | |
| Sequence Context | TGG > TGA | |
| 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 | |||||||
| 277 | 6 | Heterozygous | 5 | mild | Giansily-Blaizot et al 2001 | ||||