| Individual ID | 28864461.01 |
|---|---|
| Pubmed ID | 28864461 |
| Whose mosaic mutation | Female Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotypic Category | 3 |
| Age | 8.0 ~ 8.0 |
| Disease | Hemimegalencephaly(view all the variants in this disease) |
| OMIM ID | 611223 |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 1454 | 2475 | MTOR | 1 | 11217231 | 11217231 | Hemimegalencephaly | HiSeq 2000 HiSeq 2500 |