Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386833730
rs386833730
0.810 GeneticVariation UNIPROT Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111

2012

dbSNP: rs386833730
rs386833730
G 0.810 GeneticVariation CLINVAR

dbSNP: rs386833730
rs386833730
0.810 GeneticVariation UNIPROT Neuronal ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies location of late endosomal compartments. 22261744

2012

dbSNP: rs386833730
rs386833730
0.810 GeneticVariation UNIPROT Spectrum of mutations in the Batten disease gene, CLN3. 9311735

1997

dbSNP: rs386833730
rs386833730
0.810 GeneticVariation UNIPROT Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene. 9490299

1998

dbSNP: rs386833730
rs386833730
0.810 GeneticVariation BEFREE The disease severity of Batten disease-causing mutations (G187A, E295K and V330F), when expressed in btn1 appeared to correlate with their effect on vacuolar pH, suggesting that elevated lysosomal pH contributes to the disease process. 16291725

2005