View CLN3 gene homepage

General information
Gene symbol CLN3
Gene name ceroid-lipofuscinosis, neuronal 3
Chromosome 16
Chromosomal band p12
Imprinted Unknown
Genomic reference NG_008654.2
Transcript reference NM_001042432.1
Exon/intron information NM_001042432.1
Associated with diseases CLN-3
Citation reference(s) Kousi et al. 2012
Refseq URL Genomic reference sequence
Curators (1) Juha Muilu
Total number of public variants reported 14
Unique public DNA variants reported 9
Individuals with public variants 9
Hidden variants 0
Notes See NCL Resource - A gateway for Batten disease database for CLN3 mutations.

The establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nÂș 200754 - the GEN2PHEN project.

This database was initially part of the Finnish Disease Resource (FinDis; Polvi et al: Hum Mutat. 2013:34:1458-66).
Date created April 05, 2011
Date last updated July 03, 2016
Version CLN3:160703

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
External URL Orphanet
NCL Resource - A gateway for Batten disease
HGNC 2074
Entrez Gene 1201
PubMed articles CLN3
OMIM - Gene 607042
OMIM - Diseases CLN-3 (lipofuscinosis, ceroid, neuronal, type 3 (CLN-3))
GeneCards CLN3
GeneTests CLN3

Active transcripts




NCBI ID     

NCBI Protein ID     

00000010 16 ceroid-lipofuscinosis, neuronal 3, transcript variant 1 NM_001042432.1 NP_001035897.1 14

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2011-2017. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

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