rs121434286
×
Entrez Id:
1201
Gene Symbol:
CLN3
CLN3
Juvenile Neuronal Ceroid Lipofuscinosis
A
0.820
GeneticVariation
CLINVAR
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
25525159
2015
rs121434286
×
Entrez Id:
1201
Gene Symbol:
CLN3
CLN3
Juvenile Neuronal Ceroid Lipofuscinosis
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
rs121434286
×
Entrez Id:
1201
Gene Symbol:
CLN3
CLN3
Juvenile Neuronal Ceroid Lipofuscinosis
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
rs121434286
×
Entrez Id:
1201
Gene Symbol:
CLN3
CLN3
Juvenile Neuronal Ceroid Lipofuscinosis
0.820
GeneticVariation
UNIPROT
Neuronal ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies location of late endosomal compartments.
22261744
2012
rs121434286
×
Entrez Id:
1201
Gene Symbol:
CLN3
CLN3
Juvenile Neuronal Ceroid Lipofuscinosis
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
rs121434286
×
Entrez Id:
1201
Gene Symbol:
CLN3
CLN3
Juvenile Neuronal Ceroid Lipofuscinosis
0.820
GeneticVariation
BEFREE
Molecular screening of Batten disease : identification of a missense mutation (E295K ) in the CLN3 gene.
9490299
1998
rs121434286
×
Entrez Id:
1201
Gene Symbol:
CLN3
CLN3
Juvenile Neuronal Ceroid Lipofuscinosis
0.820
GeneticVariation
UNIPROT
Molecular screening of Batten disease : identification of a missense mutation (E295K ) in the CLN3 gene.
9490299
1998
rs121434286
×
Entrez Id:
1201
Gene Symbol:
CLN3
CLN3
Juvenile Neuronal Ceroid Lipofuscinosis
0.820
GeneticVariation
UNIPROT
Spectrum of mutations in the Batten disease gene, CLN3.
9311735
1997
rs121434286
×
Entrez Id:
1201
Gene Symbol:
CLN3
CLN3
Juvenile Neuronal Ceroid Lipofuscinosis
T
0.820
CausalMutation
CLINVAR
rs386833730
×
Entrez Id:
1201
Gene Symbol:
CLN3
CLN3
Juvenile Neuronal Ceroid Lipofuscinosis
0.810
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
rs386833730
×
Entrez Id:
1201
Gene Symbol:
CLN3
CLN3
Juvenile Neuronal Ceroid Lipofuscinosis
0.810
GeneticVariation
UNIPROT
Neuronal ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies location of late endosomal compartments.
22261744
2012
rs386833730
×
Entrez Id:
1201
Gene Symbol:
CLN3
CLN3
Juvenile Neuronal Ceroid Lipofuscinosis
0.810
GeneticVariation
BEFREE
The disease severity of Batten disease -causing mutations (G187A , E295K and V330F), when expressed in btn1 appeared to correlate with their effect on vacuolar pH, suggesting that elevated lysosomal pH contributes to the disease process.
16291725
2005
rs386833730
×
Entrez Id:
1201
Gene Symbol:
CLN3
CLN3
Juvenile Neuronal Ceroid Lipofuscinosis
0.810
GeneticVariation
UNIPROT
Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene.
9490299
1998
rs386833730
×
Entrez Id:
1201
Gene Symbol:
CLN3
CLN3
Juvenile Neuronal Ceroid Lipofuscinosis
0.810
GeneticVariation
UNIPROT
Spectrum of mutations in the Batten disease gene, CLN3.
9311735
1997
rs386833730
×
Entrez Id:
1201
Gene Symbol:
CLN3
CLN3
Juvenile Neuronal Ceroid Lipofuscinosis
G
0.810
GeneticVariation
CLINVAR
rs386833695
×
Entrez Id:
1201
Gene Symbol:
CLN3
CLN3
Juvenile Neuronal Ceroid Lipofuscinosis
T
0.800
GeneticVariation
CLINVAR
The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis.
23539563
2013
rs386833695
×
Entrez Id:
1201
Gene Symbol:
CLN3
CLN3
Juvenile Neuronal Ceroid Lipofuscinosis
T
0.800
CausalMutation
CLINVAR
The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis.
23539563
2013
rs386833694
×
Entrez Id:
1201
Gene Symbol:
CLN3
CLN3
Juvenile Neuronal Ceroid Lipofuscinosis
0.800
GeneticVariation
UNIPROT
Neuronal ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies location of late endosomal compartments.
22261744
2012
rs386833694
×
Entrez Id:
1201
Gene Symbol:
CLN3
CLN3
Juvenile Neuronal Ceroid Lipofuscinosis
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
rs386833694
×
Entrez Id:
1201
Gene Symbol:
CLN3
CLN3
Juvenile Neuronal Ceroid Lipofuscinosis
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
rs386833695
×
Entrez Id:
1201
Gene Symbol:
CLN3
CLN3
Juvenile Neuronal Ceroid Lipofuscinosis
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
rs386833695
×
Entrez Id:
1201
Gene Symbol:
CLN3
CLN3
Juvenile Neuronal Ceroid Lipofuscinosis
T
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
rs386833695
×
Entrez Id:
1201
Gene Symbol:
CLN3
CLN3
Juvenile Neuronal Ceroid Lipofuscinosis
0.800
GeneticVariation
UNIPROT
Neuronal ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies location of late endosomal compartments.
22261744
2012
rs386833714
×
Entrez Id:
1201
Gene Symbol:
CLN3
CLN3
Juvenile Neuronal Ceroid Lipofuscinosis
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
rs386833714
×
Entrez Id:
1201
Gene Symbol:
CLN3
CLN3
Juvenile Neuronal Ceroid Lipofuscinosis
0.800
GeneticVariation
UNIPROT
Neuronal ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies location of late endosomal compartments.
22261744
2012