| Individual ID | 18063752.01 |
|---|---|
| Pubmed ID | 18063752 |
| Whose mosaic mutation | Father |
| Phenotypic Category | 1 |
| Disease | CINCA syndrome(view all the variants in this disease) |
| OMIM ID | 607115 |
Found 4 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 383 | 114548 | CIAS1 | 1 | 247425142 | 247425142 | CINCA syndrome | NA |
| 384 | 114548 | CIAS1 | 1 | 247424359 | 247424359 | CINCA syndrome | NA |
| 385 | 114548 | CIAS1 | 1 | 247424233 | 247424233 | CINCA syndrome | NA |
| 386 | 114548 | CIAS1 | 1 | 247588460 | 247588460 | CINCA syndrome | NA ABI3100 |