| Individual ID | 28837158.30 |
|---|---|
| Pubmed ID | 28837158 |
| Whose mosaic mutation | Female Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotypic Category | 3 |
| Disease | EIEE11(view all the variants in this disease) |
| OMIM ID | 613721 |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 30217 | 6326 | SCN2A | 2 | 166165888 | 166165888 | EIEE11 | Custom capture |