| Individual ID | 22279087.01 |
|---|---|
| Pubmed ID | 22279087 |
| Whose mosaic mutation | Patient |
| Phenotypic Category | 3 |
| Disease | CINCA syndrome(view all the variants in this disease) |
| OMIM ID | 607115 |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 127 | 114548 | NLRP3 | 1 | 247588450 | 247588450 | CINCA syndrome | Roche454 |