| Individual ID | 2309707.01 |
|---|---|
| Pubmed ID | 2309707 |
| Whose mosaic mutation | Father |
| Phenotypic Category | 1 |
| Age | -1.0 ~ -1.0 |
| Number of affected children | 2 ( male: 2; ) |
| Disease | Osteogenesis imperfecta type2(view all the variants in this disease) |
| OMIM ID | 166210 |
Found 4 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 591 | 1277 | COL1A1 | 17 | 48267056 | 48267056 | Osteogenesis imperfecta type2 | Sanger |
| 592 | 1277 | COL1A1 | 17 | 48267056 | 48267056 | Osteogenesis imperfecta type2 | Sanger RFLP |
| 593 | 1277 | COL1A1 | 17 | 48267056 | 48267056 | Osteogenesis imperfecta type2 | Sanger RFLP |
| 594 | 1277 | COL1A1 | 17 | 48267056 | 48267056 | Osteogenesis imperfecta type2 | Sanger RFLP |