| Individual ID | 19208103.01 |
|---|---|
| Pubmed ID | 19208103 |
| Whose mosaic mutation | Mother |
| Phenotypic Category | 1 |
| Age | 15.0 |
| Number of affected children | 2 ( male: 1; female: 1; ) |
| Disease | May Hegglin anomaly(view all the variants in this disease) |
| OMIM ID | 15510 |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 341 | 4627 | MYH9 | 22 | 36680520 | 36680520 | May Hegglin anomaly | NA |