Individual ID | 26096185.05 |
---|---|
Pubmed ID | 26096185 |
Whose mosaic mutation | Father |
Origin of mosaic mutation in patients | de novo |
Phenotypic Category | 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 |
---|---|---|---|---|---|---|---|
646 | 6323 | SCN1A | 2 | 166848230 | 166848230 | Dravet syndrome | PASM |