Variant: rs373584239 

    present in Gene: CIC
    present in Chromosome: 19
    Position on Chromosome: 42290242
    Alleles of this Variant: C/A;T

rs373584239 in CIC gene and MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 PMID 21076407 2010 A de novo paradigm for mental retardation.

PMID 28288114 2017 Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans.