Variant: rs121434286 

    present in Gene: CLN3
    present in Chromosome: 16
    Position on Chromosome: 28482500
    Alleles of this Variant: C/A;T

rs121434286 in CLN3 gene and Juvenile Neuronal Ceroid Lipofuscinosis PMID 21990111 2012 Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.

PMID 22261744 2012 Neuronal ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies location of late endosomal compartments.

PMID 9490299 1998 Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene.

PMID 9311735 1997 Spectrum of mutations in the Batten disease gene, CLN3.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.