Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386833694
rs386833694
0.800 GeneticVariation UNIPROT Neuronal ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies location of late endosomal compartments. 22261744

2012

dbSNP: rs386833694
rs386833694
A 0.800 GeneticVariation CLINVAR Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111

2012

dbSNP: rs386833694
rs386833694
0.800 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: rs386833694
rs386833694
A 0.800 GeneticVariation CLINVAR The fission yeast model for the lysosomal storage disorder Batten disease predicts disease severity caused by mutations in CLN3. 19132115

2009

dbSNP: rs386833694
rs386833694
A 0.800 GeneticVariation CLINVAR Motifs within the CLN3 protein: modulation of cell growth rates and apoptosis. 12189165

2002

dbSNP: rs386833694
rs386833694
A 0.800 GeneticVariation CLINVAR Mutant CLN3 protein (R334C) that is associated with the classical JNCL phenotype was devoid of biological activities of wild-type CLN3 protein. 10924275

2000

dbSNP: rs386833694
rs386833694
A 0.800 GeneticVariation CLINVAR A yeast model for the study of Batten disease. 9618513

1998

dbSNP: rs386833694
rs386833694
0.800 GeneticVariation UNIPROT Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene. 9490299

1998

dbSNP: rs386833694
rs386833694
A 0.800 GeneticVariation CLINVAR Spectrum of mutations in the Batten disease gene, CLN3. 9311735

1997

dbSNP: rs386833694
rs386833694
0.800 GeneticVariation UNIPROT Spectrum of mutations in the Batten disease gene, CLN3. 9311735

1997