| Individual ID | 29460957.06 |
|---|---|
| Pubmed ID | 29460957 |
| Whose mosaic mutation | Female Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotypic Category | 3 |
| Age | 15.0 ~ 15.0 |
| Disease | Dravet syndrome(view all the variants in this disease) |
| OMIM ID | 604403 |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 30225 | 6323 | SCN1A | 2 | 166905442 | 166905442 | Dravet syndrome | smMIP DDPCR |