| Individual ID | 27631024.40 |
|---|---|
| Pubmed ID | 27631024 |
| Whose mosaic mutation | Female Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotypic Category | 3 |
| Disease | PIK3CA associated developmental disorders(view all the variants in this disease) |
| OMIM ID | 171834 |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 747 | 5290 | PIK3CA | 3 | 178938934 | 178938934 | PIK3CA associated developmental disorders | HiSeq2500 GS Sanger |