| Individual ID | 20131270.01 |
|---|---|
| Pubmed ID | 20131270 |
| Whose mosaic mutation | Male Patient |
| Phenotypic Category | 3 |
| Disease | CINCA syndrome(view all the variants in this disease) |
| OMIM ID | 607115 |
Found 6 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 306 | 114548 | NLRP3 | 1 | 247587658 | 247587658 | CINCA syndrome | PSQ96 |
| 307 | 114548 | NLRP3 | 1 | 247587658 | 247587658 | CINCA syndrome | PSQ96 |
| 308 | 114548 | NLRP3 | 1 | 247587658 | 247587658 | CINCA syndrome | PSQ96 |
| 309 | 114548 | NLRP3 | 1 | 247587658 | 247587658 | CINCA syndrome | PSQ96 |
| 310 | 114548 | NLRP3 | 1 | 247587658 | 247587658 | CINCA syndrome | PSQ96 |
| 311 | 114548 | NLRP3 | 1 | 247587658 | 247587658 | CINCA syndrome | PSQ96 |