Variant: rs104894386 

    present in Gene: CLN5;FBXL3
    present in Chromosome: 13
    Position on Chromosome: 76995077
    Alleles of this Variant: G/A;C

rs104894386 in CLN5;FBXL3 gene and CEROID LIPOFUSCINOSIS, NEURONAL, 5 PMID 24058541 2013 The role of N-glycosylation in folding, trafficking, and functionality of lysosomal protein CLN5.

PMID 26342652 2015 Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5.

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 16814585 2006 Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency.

PMID 20052765 2010 The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations.

PMID 17607606 2007 Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis.

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 19309691 2009 Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship.

PMID 15728307 2005 A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset.