| Individual ID | 27273849.01 |
|---|---|
| Pubmed ID | 27273849 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotypic Category | 3 |
| Age | 64.0 ~ 64.0 |
| Number of affected children | 1 ( male: 1; ) |
| 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 |
|---|---|---|---|---|---|---|---|
| 682 | 114548 | NLRP3 | 1 | 247588657 | 247588657 | Cryopyrin associated periodic syndrome | Ion Torrent PGM |