| Individual ID | 29163488.07 |
|---|---|
| Pubmed ID | 29163488 |
| Whose mosaic mutation | Patient |
| Phenotypic Category | 3 |
| Age | 50.0 ~ 55.0 |
| 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 |
|---|---|---|---|---|---|---|---|
| 1478 | 114548 | NLRP3 | 1 | 247588445 | 247588445 | Cryopyrin associated periodic syndrome | GS Junior 454 PGM IonTorrent Illumina MiSeq |