| Individual ID | 29296277.01 |
|---|---|
| Pubmed ID | 29296277 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotypic Category | 3 |
| Age | 3.0 ~ 5.2 |
| Disease | Global Developmental Delay(view all the variants in this disease) |
| OMIM ID | 617260 |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 1506 | 5290 | PIK3CA | 3 | 178916876 | 178916876 | Global Developmental Delay | HiSeq 1500 |