| Individual ID | 28215400.02 |
|---|---|
| Pubmed ID | 28215400 |
| Whose mosaic mutation | Female Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotypic Category | 3 |
| Age | 12.0 ~ 12.0 |
| Disease | Focal Cortical Dysplasias(view all the variants in this disease) |
| OMIM ID | 607341 |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 1564 | 7248 | TSC1 | 9 | 135804196 | 135804196 | Focal Cortical Dysplasias | HiSeq 2500 MiSeq |