| Individual ID | 29694806.04 |
|---|---|
| Pubmed ID | 29694806 |
| Whose mosaic mutation | Father |
| Phenotypic Category | 2 |
| Number of affected children | 2 |
| Disease | Developmental and epileptic encephalopathy(view all the variants in this disease) |
| OMIM ID | 614558 |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 30176 | 6334 | SCN8A | 12 | 52180374 | 52180374 | Developmental and epileptic encephalopathy | smMIP |