| Individual ID | 24939587.01 |
|---|---|
| Pubmed ID | 24939587 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotypic Category | 3 |
| Age | 6.0 ~ 6.0 |
| Disease | Megalencephaly capillary malformation(view all the variants in this disease) |
| OMIM ID | 60250 |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 607 | 5290 | PIK3CA | 3 | 112944554 | 112944554 | Megalencephaly capillary malformation | Sanger |