| Individual ID | 23548228.01 |
|---|---|
| Pubmed ID | 23548228 |
| Whose mosaic mutation | Father |
| Phenotypic Category | 1 |
| Number of affected children | 1 ( female: 1; ) |
| Disease | Osteogenesis imperfecta type3(view all the variants in this disease) |
| OMIM ID | 259420 |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 65 | 1277 | COL1A1 | 17 | 48262949 | 48262949 | Osteogenesis imperfecta type3 | Sanger |