| Individual ID | 21239989.03 |
|---|---|
| Pubmed ID | 21239989 |
| Whose mosaic mutation | Mother |
| Phenotypic Category | 1 |
| Number of affected children | 2 |
| Disease | Osteogenesis imperfecta type2(view all the variants in this disease) |
| OMIM ID | 166210 |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 255 | 1277 | COL1A1 | 17 | 48263148 | 48263148 | Osteogenesis imperfecta type2 | NA |