Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs119455958
rs119455958
TPP1
C 0.700 GeneticVariation CLINVAR Progressive conduction defects and cardiac death in late infantile neuronal ceroid lipofuscinosis. 22221116

2012
dbSNP: rs119455958
rs119455958
TPP1
C 0.700 GeneticVariation CLINVAR Functional consequences and rescue potential of pathogenic missense mutations in tripeptidyl peptidase I. 20340139

2010
dbSNP: rs119455958
rs119455958
TPP1
C 0.700 GeneticVariation CLINVAR Mutation of the glycosylated asparagine residue 286 in human CLN2 protein results in loss of enzymatic activity. 14736728

2004
dbSNP: rs119455958
rs119455958
TPP1
C 0.700 GeneticVariation CLINVAR Mutations in classical late infantile neuronal ceroid lipofuscinosis disrupt transport of tripeptidyl-peptidase I to lysosomes. 15317752

2004
dbSNP: rs119455958
rs119455958
TPP1
C 0.700 GeneticVariation CLINVAR Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations. 12376936

2002
dbSNP: rs119455958
rs119455958
TPP1
C 0.700 CausalMutation CLINVAR