| Individual ID | 22901312.01 |
|---|---|
| Pubmed ID | 22901312 |
| Whose mosaic mutation | Female Patient |
| Phenotypic Category | 3 |
| Age | 11.0 |
| Disease | Kabuki syndrome1(view all the variants in this disease) |
| OMIM ID | 147920 |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 106 | 8085 | MLL2 | 12 | 49431645 | 49431645 | Kabuki syndrome1 | Pyrosequencing |