| Individual ID | 19291771.01 |
|---|---|
| Pubmed ID | 19291771 |
| Whose mosaic mutation | Male Patient |
| Phenotypic Category | 3 |
| Disease | Townes Brocks syndrome(view all the variants in this disease) |
| OMIM ID | 107480 |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 337 | 6299 | SALL1 | 16 | 51175021 | 51175021 | Townes Brocks syndrome | Sanger |