| Individual ID | 17366579.01 |
|---|---|
| Pubmed ID | 17366579 |
| Whose mosaic mutation | Father |
| Phenotypic Category | 1 |
| Number of affected children | 3 ( male: 3; ) |
| Disease | Marfan syndrome(view all the variants in this disease) |
| OMIM ID | 154700 |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 413 | 2200 | FBN1 | 15 | 48780390 | 48780390 | Marfan syndrome | Beckman Coulter CEQ 2000XL |