| Individual ID | 21415079.03 |
|---|---|
| Pubmed ID | 21415079 |
| Whose mosaic mutation | Father |
| Phenotypic Category | 2 |
| Number of affected children | 1 |
| Disease | Hereditary hemorrhagic telangiectasia type1(view all the variants in this disease) |
| OMIM ID | 187300 |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 238 | 2022 | ENG | 9 | 130586637 | 130586640 | Hereditary hemorrhagic telangiectasia type1 | Sanger |