Variant: rs104894064 

    present in Gene: CLN8
    present in Chromosome: 8
    Position on Chromosome: 1771124
    Alleles of this Variant: C/G;T

rs104894064 in CLN8 gene and Neuronal Ceroid-Lipofuscinoses PMID 15160397 2004 Localization of wild-type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non-neuronal and neuronal cells.

PMID 10861296 2000 The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum.

rs104894064 in CLN8 gene and Northern epilepsy syndrome PMID 10508524 1999 EPMR patients were homozygous for a missense mutation (70C-->G, R24G) that was not found in homozygosity in 433 controls.We also cloned the mouse Cln8 sequence.

PMID 21990111 2012 Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.