Gene: PPT1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852700
rs137852700
PPT1
A 0.710 CausalMutation CLINVAR Mice homozygous for c.451C>T mutation in Cln1 gene recapitulate INCL phenotype. 25574475

2014
dbSNP: rs137852700
rs137852700
PPT1
0.710 GeneticVariation BEFREE Homogeneous PCR nucleobase quenching assays to detect four mutations that cause neuronal ceroid lipofuscinosis: T75P and R151X in CLN1, and IVS5-1G>C and R208X in CLN2. 16720047

2006
dbSNP: rs137852700
rs137852700
PPT1
A 0.710 CausalMutation CLINVAR Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S. 9664077

1998
dbSNP: rs137852700
rs137852700
PPT1
A 0.710 CausalMutation CLINVAR Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits. 9425237

1998
dbSNP: rs386833645
rs386833645
PPT1
T 0.700 GeneticVariation CLINVAR Glycosylation, transport, and complex formation of palmitoyl protein thioesterase 1 (PPT1)--distinct characteristics in neurons. 17565660

2007
dbSNP: rs386833659
rs386833659
PPT1
A 0.700 CausalMutation CLINVAR Glycosylation, transport, and complex formation of palmitoyl protein thioesterase 1 (PPT1)--distinct characteristics in neurons. 17565660

2007
dbSNP: rs386833645
rs386833645
PPT1
T 0.700 GeneticVariation CLINVAR Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis. 11440996

2001
dbSNP: rs386833659
rs386833659
PPT1
A 0.700 CausalMutation CLINVAR New mutations in the neuronal ceroid lipofuscinosis genes. 11589012

2001
dbSNP: rs386833645
rs386833645
PPT1
T 0.700 GeneticVariation CLINVAR Neuronal ceroid lipofuscinoses: research update. 11073228

2000
dbSNP: rs386833659
rs386833659
PPT1
A 0.700 CausalMutation CLINVAR Detection of eight novel palmitoyl protein thioesterase (PPT) mutations underlying infantile neuronal ceroid lipofuscinosis (INCL;CLN1). 10679943

2000
dbSNP: rs386833645
rs386833645
PPT1
T 0.700 GeneticVariation CLINVAR Genotype-phenotype correlations in neuronal ceroid lipofuscinosis due to palmitoyl-protein thioesterase deficiency. 10191107

1999
dbSNP: rs386833645
rs386833645
PPT1
T 0.700 GeneticVariation CLINVAR Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S. 9664077

1998
dbSNP: rs137852695
rs137852695
PPT1
A 0.700 CausalMutation CLINVAR

dbSNP: rs386833634
rs386833634
PPT1
AT 0.700 CausalMutation CLINVAR

dbSNP: rs386833651
rs386833651
PPT1
T 0.700 CausalMutation CLINVAR

dbSNP: rs137852696
rs137852696
PPT1
0.010 GeneticVariation BEFREE Homogeneous PCR nucleobase quenching assays to detect four mutations that cause neuronal ceroid lipofuscinosis: T75P and R151X in CLN1, and IVS5-1G>C and R208X in CLN2. 16720047

2006