| Individual ID | 16117786.01 |
|---|---|
| Pubmed ID | 16117786 |
| Whose mosaic mutation | Mother |
| Phenotypic Category | 3 |
| Number of affected children | 1 ( female: 1; ) |
| Disease | Neurofibromatosis type1(view all the variants in this disease) |
| OMIM ID | 162200 |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 476 | 4763 | NF1 | 17 | 29661945 | 29661945 | Neurofibromatosis type1 | DHPLC |