|
Variant ID: 116 |
cDNA Change | c.1246delT |
|---|---|---|
| Amino Acid Change | p.Trp416Glyfs*3 (Legacy AA No. 356) | |
| Type | Deletion | |
| Effect | Frameshift | |
| Domain | Serine Protease | |
| Sequence Context | delT | |
| 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 | |||||||
| 306 | 4 | Heterozygous | 1 | 6 | unknown | Millar et al 2000 | |||