| Individual ID | 22658544.01 |
|---|---|
| Pubmed ID | 22658544 |
| Whose mosaic mutation | Male Patient |
| Phenotypic Category | 3 |
| Age | 2.0 |
| Disease | Congenital lipomatous overgrowth vascular malformations and epidermal nevi(view all the variants in this disease) |
| OMIM ID | 612918 |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 116 | 5290 | PIK3CA | 3 | 178952085 | 178952085 | Congenital lipomatous overgrowth vascular malformations and epidermal nevi | Massively Parallel RNA Sequencing |