Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434286
rs121434286
A 0.820 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015

dbSNP: rs121434286
rs121434286
A 0.820 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: rs121434286
rs121434286
0.820 GeneticVariation UNIPROT Neuronal ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies location of late endosomal compartments. 22261744

2012

dbSNP: rs121434286
rs121434286
0.820 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: rs121434286
rs121434286
0.820 GeneticVariation BEFREE We have analysed the intracellular processing and localization of two mutants, 461-677del, which is present in 85% of CLN3 alleles and causes the classical JNCL, and E295K [corrected], which is a rare missense mutation associated with an atypical form of JNCL. 10332042

1999

dbSNP: rs121434286
rs121434286
0.820 GeneticVariation UNIPROT Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene. 9490299

1998

dbSNP: rs121434286
rs121434286
0.820 GeneticVariation BEFREE Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene. 9490299

1998

dbSNP: rs121434286
rs121434286
0.820 GeneticVariation UNIPROT Spectrum of mutations in the Batten disease gene, CLN3. 9311735

1997

dbSNP: rs121434286
rs121434286
T 0.820 CausalMutation CLINVAR