| Individual ID | 25988971.01 |
|---|---|
| Pubmed ID | 25988971 |
| Whose mosaic mutation | Female Patient |
| Phenotypic Category | 3 |
| Disease | Cryopyrin associated periodic syndrome(view all the variants in this disease) |
| OMIM ID | 114212 |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 601 | 114548 | NLRP3 | 1 | 247588454 | 247588454 | Cryopyrin associated periodic syndrome | HiSeq2000 |