| Individual ID | 21415079.02 |
|---|---|
| Pubmed ID | 21415079 |
| Whose mosaic mutation | Father |
| Phenotypic Category | 3 |
| Number of affected children | 3 ( female: 3; ) |
| Disease | Hereditary hemorrhagic telangiectasia type1(view all the variants in this disease) |
| OMIM ID | 187300 |
Found 4 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 239 | 2022 | ENG | 9 | 130588801 | 130588801 | Hereditary hemorrhagic telangiectasia type1 | Sanger |
| 240 | 2022 | ENG | 9 | 130588801 | 130588801 | Hereditary hemorrhagic telangiectasia type1 | Sanger |
| 241 | 2022 | ENG | 9 | 130588801 | 130588801 | Hereditary hemorrhagic telangiectasia type1 | Sanger |
| 242 | 2022 | ENG | 9 | 130588801 | 130588801 | Hereditary hemorrhagic telangiectasia type1 | Sanger |