Variant: rs151344513 

    present in Gene: AFG3L2;TUBB6;LOC107985154
    present in Chromosome: 18
    Position on Chromosome: 12340220
    Alleles of this Variant: G/A

rs151344513 in AFG3L2;TUBB6;LOC107985154 gene and SPINOCEREBELLAR ATAXIA 28 PMID 24293060 2014 A novel missense mutation in AFG3L2 associated with late onset and slow progression of spinocerebellar ataxia type 28.

PMID 20208537 2010 Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.

PMID 26677414 2015 Spinocerebellar ataxia 28: a novel AFG3L2 mutation in a German family with young onset, slow progression and saccadic slowing.

PMID 20354562 2010 Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation.

PMID 20725928 2010 Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.

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

PMID 29053796 2017 Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia.