| Individual ID | 27761249.01 |
|---|---|
| Pubmed ID | 27761249 |
| Whose mosaic mutation | Father |
| Phenotypic Category | 1 |
| Age | 34.0 ~ 34.0 |
| Number of affected children | 2 |
| Disease | Osteogenesis imperfecta(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 |
|---|---|---|---|---|---|---|---|
| 34638 | 1278 | COL1A2 | 7 | 94045815 | 94045815 | Osteogenesis imperfecta | Sanger Sequencing Ion Torrent Ampliseq |