| Individual ID | 24431285.01 |
|---|---|
| Pubmed ID | 24431285 |
| Whose mosaic mutation | Male Patient |
| Phenotypic Category | 3 |
| Age | 1.5 |
| 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 |
|---|---|---|---|---|---|---|---|
| 2 | 114548 | NLRP3 | 1 | 247588449 | 247588449 | CINCA syndrome | HiSeq |