Variant: rs587782989 

    present in Gene: CCDC88C
    present in Chromosome: 14
    Position on Chromosome: 91321256
    Alleles of this Variant: C/T

rs587782989 in CCDC88C gene and Spinocerebellar ataxia type 40 PMID 25062847 2014 A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia.