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Individual ID: 17054697.01
Individual ID
17054697.01
Pubmed ID
17054697
Whose mosaic mutation
Father
Phenotypic Category
2
Age
0.5 ~ 0.67
Number of affected children
2 ( female: 2; )
Disease
Dravet syndrome
(view all the variants in this disease)
OMIM ID
607208
Variants
Found 3 variants in this database.
Variant ID
Entrez Gene ID
Gene
Chromsome
Start
End
Disease
Method
422
6323
SCN1A
2
166911147
166911147
Dravet syndrome
DHPLC
423
6323
SCN1A
2
166911147
166911147
Dravet syndrome
DHPLC
424
6323
SCN1A
2
166911147
166911147
Dravet syndrome
DHPLC