Individual ID | 29281825.13 |
---|---|
Pubmed ID | 29281825 |
Whose mosaic mutation | Female Patient |
Phenotypic Category | 3 |
Disease | Hemimegalencephaly(view all the variants in this disease) |
OMIM ID | 604364 |
Found 1 variant in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
1570 | 7249 | TSC2 | 16 | 2120501 | 2120501 | Hemimegalencephaly | Sanger |