Variant: rs398122959 

    present in Gene: TPP1
    present in Chromosome: 11
    Position on Chromosome: 6615199
    Alleles of this Variant: A/C

rs398122959 in TPP1 gene and Neuronal Ceroid-Lipofuscinoses PMID 23418007 2013 Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease).

rs398122959 in TPP1 gene and SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7 PMID 23418007 2013 Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease).