Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
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 |
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|
A | 0.820 | GeneticVariation | CLINVAR | RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. | 25525159 | 2015 |
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|
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 |
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|
0.820 | GeneticVariation | BEFREE | Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene. | 9490299 | 1998 |
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|
0.820 | GeneticVariation | UNIPROT | Spectrum of mutations in the Batten disease gene, CLN3. | 9311735 | 1997 |
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|
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 |
||||
|
0.820 | GeneticVariation | UNIPROT | Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene. | 9490299 | 1998 |
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|
0.820 | GeneticVariation | UNIPROT | Neuronal ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies location of late endosomal compartments. | 22261744 | 2012 |
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|
T | 0.820 | CausalMutation | CLINVAR |