|
Variant ID: 31 |
cDNA Change | c.325C>T |
|---|---|---|
| Amino Acid Change | p.Gln109* (Legacy AA No. 49) | |
| Type | Point | |
| Effect | Nonsense | |
| Domain | EGF1 | |
| Sequence Context | CAG > TAG | |
| Location | Exon( 5) | |
| 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 | |||||||
| 352 | 6 | Heterozygous | <1 | severe | Giansily-Blaizot et al 2001 | ||||