Individual ID | 21702021.10 |
---|---|
Pubmed ID | 21702021 |
Whose mosaic mutation | Patient |
Phenotypic Category | 3 |
Disease | CINCA syndrome(view all the variants in this disease) |
OMIM ID | 607115 |
Found 5 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
196 | 114548 | NLRP3 | 1 | 247587658 | 247587658 | CINCA syndrome | ABI3730 |
197 | 114548 | NLRP3 | 1 | 247587658 | 247587658 | CINCA syndrome | ABI3730 |
198 | 114548 | NLRP3 | 1 | 247587658 | 247587658 | CINCA syndrome | ABI3730 |
199 | 114548 | NLRP3 | 1 | 247587658 | 247587658 | CINCA syndrome | ABI3730 |
200 | 114548 | NLRP3 | 1 | 247587658 | 247587658 | CINCA syndrome | ABI3730 |