CLN5 gene homepage

An NCL gene variant database
General information
Gene symbol CLN5
Gene name ceroid-lipofuscinosis, neuronal 5
Chromosome 13
Chromosomal band q21.2-q32
Imprinted Unknown
Genomic reference NG_009064.1
Transcript reference NM_006493.2
Exon/intron information NM_006493.2 exon/intron table
Associated with diseases CLN, CLN-5
Citation reference(s) Savukoski 1998, Kousi 2012
Refseq URL Genomic reference sequence
Curators (2) Sara Mole and Juha Muilu
Total number of public variants reported 0
Unique public DNA variants reported 0
Individuals with public variants 0
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).
Date created April 29, 2010

Graphical displays and utilities
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_006493.2.

Links to other resources
Homepage URL https://www.LOVD.nl/CLN5
External URL Orphanet
HGNC 2076
Entrez Gene 1203
PubMed articles CLN5
OMIM - Gene 608102
OMIM - Diseases CLN-5 (lipofuscinosis, ceroid, neuronal, type 5 (CLN-5))
HGMD CLN5
GeneCards CLN5
GeneTests CLN5


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00001721 13 ceroid-lipofuscinosis, neuronal 5 NM_006493.2 NP_006484.1 0


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 © 2010-2017. 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.

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 out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the 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.