| Individual ID | 21910241.01 |
|---|---|
| Pubmed ID | 21910241 |
| Whose mosaic mutation | Father |
| Phenotypic Category | 2 |
| Number of affected children | 1 ( male: 1; ) |
| Disease | Timothy syndrome type1(view all the variants in this disease) |
| OMIM ID | 601005 |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 148 | 775 | CACNA1C | 12 | 2613704 | 2613704 | Timothy syndrome type1 | ABI3730 |