| Individual ID | 29142202.20 |
|---|---|
| Pubmed ID | 29142202 |
| Whose mosaic mutation | Mother |
| Phenotypic Category | 2 |
| Number of affected children | 2 ( male: 1; female: 1; ) |
| Disease | Dravet syndrome(view all the variants in this disease) |
| OMIM ID | 607208 |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 29966 | 6323 | SCN1A | 2 | 166904178 | 166904178 | Dravet syndrome | Sanger mDDPCR PASM |