| Individual ID | 11241845.01 |
|---|---|
| Pubmed ID | 11241845 |
| Whose mosaic mutation | Father |
| Phenotypic Category | 2 |
| Number of affected children | 1 ( male: 1; ) |
| Disease | Tuberous sclerosis1(view all the variants in this disease) |
| OMIM ID | 191100 |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 556 | 7248 | TSC1 | 9 | 135772900 | 135772900 | Tuberous sclerosis1 | DHPLC |