| Individual ID | 16255047.01 |
|---|---|
| Pubmed ID | 16255047 |
| Whose mosaic mutation | Male Patient |
| Phenotypic Category | 3 |
| Age | 1.83 |
| Disease | CINCA syndrome(view all the variants in this disease) |
| OMIM ID | 607115 |
Found 6 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 468 | 114548 | CIAS1 | 1 | 247588460 | 247588460 | CINCA syndrome | ABI310 |
| 469 | 114548 | CIAS1 | 1 | 247588460 | 247588460 | CINCA syndrome | ABI310 |
| 470 | 114548 | CIAS1 | 1 | 247588460 | 247588460 | CINCA syndrome | ABI310 |
| 471 | 114548 | CIAS1 | 1 | 247588460 | 247588460 | CINCA syndrome | ABI310 |
| 472 | 114548 | CIAS1 | 1 | 247588460 | 247588460 | CINCA syndrome | ABI310 |
| 473 | 114548 | CIAS1 | 1 | 247588460 | 247588460 | CINCA syndrome | ABI310 NA |