rs267606737
×
Entrez Id:
1201
Gene Symbol:
CLN3
CLN3
Neuronal Ceroid-Lipofuscinoses
T
0.710
CausalMutation
CLINVAR
rs1057516677
×
Entrez Id:
1201
Gene Symbol:
CLN3
CLN3
Neuronal Ceroid-Lipofuscinoses
T
0.700
CausalMutation
CLINVAR
rs121434286
×
Entrez Id:
1201
Gene Symbol:
CLN3
CLN3
Neuronal Ceroid-Lipofuscinoses
T
0.700
CausalMutation
CLINVAR
rs1555468634
×
Entrez Id:
1201
Gene Symbol:
CLN3
CLN3
Neuronal Ceroid-Lipofuscinoses
G
0.700
CausalMutation
CLINVAR
rs386833732
×
Entrez Id:
1201
Gene Symbol:
CLN3
CLN3
Neuronal Ceroid-Lipofuscinoses
TC
0.700
CausalMutation
CLINVAR
rs386833736
×
Entrez Id:
1201
Gene Symbol:
CLN3
CLN3
Neuronal Ceroid-Lipofuscinoses
GA
0.700
CausalMutation
CLINVAR
rs386833740
×
Entrez Id:
1201
Gene Symbol:
CLN3
CLN3
Neuronal Ceroid-Lipofuscinoses
GT
0.700
CausalMutation
CLINVAR
rs386833694
×
Entrez Id:
1201
Gene Symbol:
CLN3
CLN3
Neuronal Ceroid-Lipofuscinoses
A
0.700
GeneticVariation
CLINVAR
Spectrum of mutations in the Batten disease gene, CLN3.
9311735
1997
rs386833695
×
Entrez Id:
1201
Gene Symbol:
CLN3
CLN3
Neuronal Ceroid-Lipofuscinoses
T
0.700
CausalMutation
CLINVAR
Spectrum of mutations in the Batten disease gene, CLN3.
9311735
1997
rs386833720
×
Entrez Id:
1201
Gene Symbol:
CLN3
CLN3
Neuronal Ceroid-Lipofuscinoses
A
0.700
CausalMutation
CLINVAR
Spectrum of mutations in the Batten disease gene, CLN3.
9311735
1997
rs386833694
×
Entrez Id:
1201
Gene Symbol:
CLN3
CLN3
Neuronal Ceroid-Lipofuscinoses
A
0.700
GeneticVariation
CLINVAR
Batten disease: evaluation of CLN3 mutations on protein localization and function.
10749980
2000
rs1267314028
×
Entrez Id:
1201
Gene Symbol:
CLN3
CLN3
Neuronal Ceroid-Lipofuscinoses
0.010
GeneticVariation
BEFREE
We determined that the mutations 223A --> G and 451C --> T in CLN1, T523-1G --> C, and 636 C --> T in CLN2, and deletion of a 1.02-kb genomic fragment in CLN3 are the five common mutations for NCL .
11142754
2000
rs762896453
×
Entrez Id:
1201
Gene Symbol:
CLN3
CLN3
Neuronal Ceroid-Lipofuscinoses
0.010
GeneticVariation
BEFREE
We determined that the mutations 223A --> G and 451C --> T in CLN1, T523-1G --> C, and 636 C --> T in CLN2, and deletion of a 1.02-kb genomic fragment in CLN3 are the five common mutations for NCL .
11142754
2000
rs386833694
×
Entrez Id:
1201
Gene Symbol:
CLN3
CLN3
Neuronal Ceroid-Lipofuscinoses
A
0.700
GeneticVariation
CLINVAR
btn1, the Schizosaccharomyces pombe homologue of the human Batten disease gene CLN3, regulates vacuole homeostasis.
16291725
2005
rs386833694
×
Entrez Id:
1201
Gene Symbol:
CLN3
CLN3
Neuronal Ceroid-Lipofuscinoses
A
0.700
GeneticVariation
CLINVAR
Nitric oxide signaling is disrupted in the yeast model for Batten disease.
17475770
2007
rs386833694
×
Entrez Id:
1201
Gene Symbol:
CLN3
CLN3
Neuronal Ceroid-Lipofuscinoses
A
0.700
GeneticVariation
CLINVAR
Increased expression of lysosomal acid phosphatase in CLN3-defective cells and mouse brain tissue.
17868323
2007
rs386833720
×
Entrez Id:
1201
Gene Symbol:
CLN3
CLN3
Neuronal Ceroid-Lipofuscinoses
A
0.700
CausalMutation
CLINVAR
A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis.
17947292
2008
rs267606737
×
Entrez Id:
1201
Gene Symbol:
CLN3
CLN3
Neuronal Ceroid-Lipofuscinoses
0.710
GeneticVariation
BEFREE
Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X ).
19489875
2009
rs386833694
×
Entrez Id:
1201
Gene Symbol:
CLN3
CLN3
Neuronal Ceroid-Lipofuscinoses
A
0.700
GeneticVariation
CLINVAR
The fission yeast model for the lysosomal storage disorder Batten disease predicts disease severity caused by mutations in CLN3.
19132115
2009
rs386833695
×
Entrez Id:
1201
Gene Symbol:
CLN3
CLN3
Neuronal Ceroid-Lipofuscinoses
T
0.700
CausalMutation
CLINVAR
The fission yeast model for the lysosomal storage disorder Batten disease predicts disease severity caused by mutations in CLN3.
19132115
2009
rs386833695
×
Entrez Id:
1201
Gene Symbol:
CLN3
CLN3
Neuronal Ceroid-Lipofuscinoses
T
0.700
CausalMutation
CLINVAR
Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease).
20187884
2010
rs386833720
×
Entrez Id:
1201
Gene Symbol:
CLN3
CLN3
Neuronal Ceroid-Lipofuscinoses
A
0.700
CausalMutation
CLINVAR
Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease).
20187884
2010
rs386833695
×
Entrez Id:
1201
Gene Symbol:
CLN3
CLN3
Neuronal Ceroid-Lipofuscinoses
T
0.700
CausalMutation
CLINVAR
Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients.
21499717
2011
rs386833695
×
Entrez Id:
1201
Gene Symbol:
CLN3
CLN3
Neuronal Ceroid-Lipofuscinoses
T
0.700
CausalMutation
CLINVAR
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
21990111
2012
rs386833709
×
Entrez Id:
1201
Gene Symbol:
CLN3
CLN3
Neuronal Ceroid-Lipofuscinoses
A
0.700
CausalMutation
CLINVAR
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
21990111
2012