Variant: rs121908427 

    present in Gene: SLC12A6
    present in Chromosome: 15
    Position on Chromosome: 34236719
    Alleles of this Variant: G/A;T

rs121908427 in SLC12A6 gene and Corpus callosum agenesis neuronopathy PMID 16606917 2006 Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome.

PMID 17893295 2007 Distal truncation of KCC3 in non-French Canadian HMSN/ACC families.

PMID 24341143 2013 A new patient with Andermann syndrome: an underdiagnosed clinical genetics entity?

PMID 12838516 2003 Hereditary motor and sensory neuropathy with agenesis of the corpus callosum.

PMID 12368912 2002 The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum.