Variant: rs104894483 

    present in Gene: CLN6
    present in Chromosome: 15
    Position on Chromosome: 68214373
    Alleles of this Variant: C/A;G;T

rs104894483 in CLN6 gene and CEROID LIPOFUSCINOSIS, NEURONAL, 6 PMID 11727201 2002 The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein.

PMID 21359198 2011 Distinct early molecular responses to mutations causing vLINCL and JNCL presage ATP synthase subunit C accumulation in cerebellar cells.

PMID 15265688 2004 CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein.

rs104894483 in CLN6 gene and Seizures PMID 11791207 2002 Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse.