| Individual ID | 27016041.01 |
|---|---|
| Pubmed ID | 27016041 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotypic Category | 3 |
| Age | 6.0 ~ 6.0 |
| Number of affected children | 1 ( male: 1; ) |
| Disease | EIEE9(view all the variants in this disease) |
| OMIM ID | 300088 |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 699 | 57526 | PCDH19 | X | 99662991 | 99662991 | EIEE9 | Exome Sequencing |