Variant: rs397515476 

    present in Gene: KCND3
    present in Chromosome: 1
    Position on Chromosome: 111981673
    Alleles of this Variant: T/C;G

rs397515476 in KCND3 gene and Spinocerebellar ataxia 19 PMID 28895081 2018 Novel De Novo KCND3 Mutation in a Japanese Patient with Intellectual Disability, Cerebellar Ataxia, Myoclonus, and Dystonia.

PMID 20050888 2010 EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.

PMID 23280837 2012 Mutations in KCND3 cause spinocerebellar ataxia type 22.

PMID 23280838 2012 Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19.