| Individual ID | 24497998.01 |
|---|---|
| Pubmed ID | 24497998 |
| Whose mosaic mutation | Male Patient |
| Phenotypic Category | 3 |
| Disease | Megalencephaly capillary malformation polymicrogyria syndrome(view all the variants in this disease) |
| OMIM ID | 602501 |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 1 | 5290 | PIK3CA | 3 | 178938934 | 178938934 | Megalencephaly capillary malformation polymicrogyria syndrome | Hiseq2000 |