Individual ID | 28837158.22 |
---|---|
Pubmed ID | 28837158 |
Whose mosaic mutation | Male Patient |
Origin of mosaic mutation in patients | de novo |
Phenotypic Category | 3 |
Disease | EIEE6(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 |
---|---|---|---|---|---|---|---|
30209 | 6323 | SCN1A | 2 | 166915131 | 166915131 | EIEE6 | Custom capture |