|
Variant ID: 117 |
cDNA Change | c.1247G>A |
|---|---|---|
| Amino Acid Change | p.Trp416* (Legacy AA No. 356) | |
| Type | Point | |
| Effect | Nonsense | |
| Domain | Serine Protease | |
| Sequence Context | TGG > TAG | |
| 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 | |||||||
| 84 | 4 | Heterozygous | 50 | 48 | unknown | Bernardi et al 1994a | |||
| 85 | 5 | Heterozygous | 7 | 41 | moderate | Bernardi et al 1994a | |||
| 147 | 4 | Heterozygous | 48 | 48 | asymptomatic | Bernardi et al 1994a | |||