Individual ID | 25799227.01 |
---|---|
Pubmed ID | 25799227 |
Whose mosaic mutation | Female Patient |
Origin of mosaic mutation in patients | de novo |
Phenotypic Category | 3 |
Age | 5.0 ~ 5.0 |
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 |
---|---|---|---|---|---|---|---|
662 | 2475 | MTOR | 1 | 11174395 | 11174395 | Focal Cortical Dysplasias | HiSeq 2500 |