Variant: rs386833966 

    present in Gene: FBXL3;CLN5
    present in Chromosome: 13
    Position on Chromosome: 77000824
    Alleles of this Variant: T/-

rs386833966 in FBXL3;CLN5 gene and Neuronal Ceroid-Lipofuscinoses PMID 20052765 2010 The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations.

PMID 11971870 2002 Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein.

PMID 24058541 2013 The role of N-glycosylation in folding, trafficking, and functionality of lysosomal protein CLN5.

PMID 9662406 1998 CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis.

PMID 24038957 2013 Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5.

PMID 20157158 2010 CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL.