| Individual ID | 15806394.01 |
|---|---|
| Pubmed ID | 15806394 |
| Whose mosaic mutation | Female Patient |
| Phenotypic Category | 3 |
| Disease | Campomelic dysplasia(view all the variants in this disease) |
| OMIM ID | 114290 |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 485 | 6662 | SOX9 | 17 | 70120318 | 70120318 | Campomelic dysplasia | PSQ96 |