| Individual ID | 28916543.04 |
|---|---|
| Pubmed ID | 28916543 |
| Whose mosaic mutation | Female Patient |
| Phenotypic Category | 3 |
| Age | 8.0 ~ 8.0 |
| Disease | Cryopyrin associated periodic syndrome(view all the variants in this disease) |
| OMIM ID | 606416 |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 1472 | 114548 | NLRP3 | 1 | 247588043 | 247588043 | Cryopyrin associated periodic syndrome | Sanger |