The CLN8 gene homepage

An NCL gene variant database
General information
Gene symbol CLN8
Gene name ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
Chromosome 8
Chromosomal band p23.3
Imprinted Unknown
Genomic reference NG_008656.2
Transcript reference NM_018941.3
Exon/intron information NM_018941.3 exon/intron table
Associated with diseases CLN, CLN8, CLN8B
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Sara Mole
Total number of public variants reported 129
Unique public DNA variants reported 53
Individuals with public variants 108
Hidden variants 0
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.
This database was initially part of the Finnish Disease Resource (FinDis; Polvi et al: Hum Mutat. 2013: 34: 1458-66). We gratefully acknowledge the support of Juha Muilu acting as curator until 2015.
Date created October 11, 2012
Date last updated September 29, 2021
Version CLN8:210929

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_018941.3.
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 https://www.LOVD.nl/CLN8
HGNC 2079
Entrez Gene 2055
PubMed articles CLN8
OMIM - Gene 607837
OMIM - Diseases CLN8 (lipofuscinosis, ceroid, neuronal, type 8 (CLN-8))
CLN8B (lipofuscinosis, ceroid, neuronal, type 8B (CLN-8, Northern epilepsy variant))
HGMD CLN8
GeneCards CLN8
GeneTests CLN8
Orphanet CLN8


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00001722 8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) NM_018941.3 NP_061764.2 129


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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 © 2012-2022. 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.