Individual ID | 21702021.09 |
---|---|
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 |
---|---|---|---|---|---|---|---|
201 | 114548 | NLRP3 | 1 | 247588450 | 247588450 | CINCA syndrome | ABI3730 |
202 | 114548 | NLRP3 | 1 | 247588450 | 247588450 | CINCA syndrome | ABI3730 |
203 | 114548 | NLRP3 | 1 | 247588450 | 247588450 | CINCA syndrome | ABI3730 |
204 | 114548 | NLRP3 | 1 | 247588450 | 247588450 | CINCA syndrome | ABI3730 |
205 | 114548 | NLRP3 | 1 | 247588450 | 247588450 | CINCA syndrome | ABI3730 |