| Individual ID | 27753196.01 |
|---|---|
| Pubmed ID | 27753196 |
| Whose mosaic mutation | Female Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotypic Category | 3 |
| Age | 7.0 ~ 7.0 |
| Disease | Smith Kingsmore syndrome(view all the variants in this disease) |
| OMIM ID | 616638 |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 1453 | 2475 | MTOR | 1 | 11190804 | 11190804 | Smith Kingsmore syndrome | HiSeq2000 |