| Individual ID | 21415079.01 |
|---|---|
| Pubmed ID | 21415079 |
| Whose mosaic mutation | Father |
| Phenotypic Category | 3 |
| Number of affected children | 1 ( male: 1; grandson: 1; granddaughter: 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 |
|---|---|---|---|---|---|---|---|
| 243 | 2022 | ENG | 9 | 130581074 | 130581074 | Hereditary hemorrhagic telangiectasia type1 | Sanger |