| Individual ID | 26351730.01 |
|---|---|
| Pubmed ID | 26351730 |
| Whose mosaic mutation | Female Patient |
| Phenotypic Category | 3 |
| Age | 13.0 ~ 13.0 |
| Disease | Megalencephaly capillary malformation 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 |
|---|---|---|---|---|---|---|---|
| 34632 | 5290 | PIK3CA | 3 | 178938934 | 178938934 | Megalencephaly capillary malformation syndrome | Whole Exome Sequencing Sanger Sequencing |