The CLN6 gene homepage

An NCL gene variant database
General information
Gene symbol CLN6
Gene name ceroid-lipofuscinosis, neuronal 6, late infantile, variant
Chromosome 15
Chromosomal band q23
Imprinted Unknown
Genomic reference NG_008764.2
Transcript reference NM_017882.2
Exon/intron information NM_017882.2 exon/intron table
Associated with diseases CLN, CLN4A, CLN6
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Sara Mole
Total number of public variants reported 81
Unique public DNA variants reported 62
Individuals with public variants 56
Hidden variants 6
Download all this gene's data Download all data
Notes An NCL gene variant database.
Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created April 29, 2010
Date last updated November 01, 2022
Version CLN6:221101

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_017882.2.
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
Homepage URL
HGNC 2077
Entrez Gene 54982
PubMed articles CLN6
OMIM - Gene 606725
OMIM - Diseases CLN4A (lipofuscinosis, ceroid, neuronal, autosomal recessive,type 4A, Kufs type (CLN-4A))
CLN6 (lipofuscinosis, ceroid, neuronal, type 6 (CLN-6))
GeneCards CLN6
GeneTests CLN6
Orphanet CLN6

Active transcripts




NCBI ID     

NCBI Protein ID     

00005320 15 ceroid-lipofuscinosis, neuronal 6, late infantile, variant NM_017882.2 NP_060352.1 81

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized 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 © 2010-2023. 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.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), curator(s), or any of their employees or agents for the effects of any product, process, or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.