| Individual ID | 23623265.01 |
|---|---|
| Pubmed ID | 23623265 |
| Whose mosaic mutation | Father |
| Phenotypic Category | 2 |
| Number of affected children | 2 ( male: 1; female: 1; ) |
| Disease | Autosomal dominant Hyper IgE syndrome(view all the variants in this disease) |
| OMIM ID | 147060 |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 60 | 6774 | STAT3 | 17 | 40481660 | 40481660 | Autosomal dominant Hyper IgE syndrome | Taqman RTPCR |