Variant: rs121918306 

    present in Gene: SPTBN2
    present in Chromosome: 11
    Position on Chromosome: 66713645
    Alleles of this Variant: A/G

rs121918306 in SPTBN2 gene and Spinocerebellar Ataxia Type 5 PMID 16429157 2006 Spectrin mutations cause spinocerebellar ataxia type 5.

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

PMID 22914369 2013 Case of infantile onset spinocerebellar ataxia type 5.