| Individual ID | 29694806.02 |
|---|---|
| Pubmed ID | 29694806 |
| Whose mosaic mutation | Mother |
| Phenotypic Category | 2 |
| Number of affected children | 1 |
| Disease | Dravet syndrome(view all the variants in this disease) |
| OMIM ID | 607208 |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 30174 | 6323 | SCN1A | 2 | 166852557 | 166852557 | Dravet syndrome | smMIP |