Individual ID | 29460957.01 |
---|---|
Pubmed ID | 29460957 |
Whose mosaic mutation | Male Patient |
Origin of mosaic mutation in patients | de novo |
Phenotypic Category | 3 |
Age | 10.0 ~ 10.0 |
Disease | Dravet syndrome(view all the variants in this disease) |
OMIM ID | 604403 |
Found 1 variant in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
30220 | 6323 | SCN1A | 2 | 166909399 | 166909434 | Dravet syndrome | smMIP |