View gene CLN8

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
Associated with diseases CLN-8, CLN-8
Citation reference(s) Ranta 1999, Kousi et al. 2012
Refseq URL Genomic reference sequence
Curators (1) Juha Muilu
Total number of public variants reported 0
Unique public DNA variants reported 0
Individuals with public variants 0
Hidden variants 0
Notes See NCL Resource - A gateway for Batten disease database for CLN8 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 October 11, 2012

Links to other resources
External URL Orphanet
NCL Resource - A gateway for Batten disease
HGNC 2079
Entrez Gene 2055
PubMed articles CLN8
OMIM - Gene 607837
OMIM - Diseases CLN-8 (lipofuscinosis, ceroid, neuronal, type 8 (CLN-8))
CLN-8 (lipofuscinosis, ceroid, neuronal, type 8 (CLN-8, Northern epilepsy variant))


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 0


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