| Individual ID | 21702021.06 |
|---|---|
| Pubmed ID | 21702021 |
| Whose mosaic mutation | Patient |
| Phenotypic Category | 3 |
| Disease | CINCA syndrome(view all the variants in this disease) |
| OMIM ID | 607115 |
Found 5 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 212 | 114548 | NLRP3 | 1 | 247588460 | 247588460 | CINCA syndrome | ABI3730 |
| 213 | 114548 | NLRP3 | 1 | 247588460 | 247588460 | CINCA syndrome | ABI3730 |
| 214 | 114548 | NLRP3 | 1 | 247588460 | 247588460 | CINCA syndrome | ABI3730 |
| 215 | 114548 | NLRP3 | 1 | 247588460 | 247588460 | CINCA syndrome | ABI3730 |
| 216 | 114548 | NLRP3 | 1 | 247588460 | 247588460 | CINCA syndrome | ABI3730 |