LOVD KCTD7 homepage

General information
Gene name Potassium channel tetramerisation domain containing 7 (CLN14)
Gene symbol KCTD7
Chromosome Location 7q11.21
Database location grenada.lumc.nl
Curator LOVD-team, but with Curator vacancy and Sara Mole
PubMed references View all (unique) PubMed references in the KCTD7 database
Date of creation April 29, 2010
Last update January 05, 2013
Version KCTD7 130105
Add sequence variant Submit a sequence variant
First time submitters Register here
Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NG_028110.1
Transcript refseq ID NM_153033.4
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 0
Total number of individuals with variant(s) 0
Total number of variants reported 0
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NOTE Alias CLN14.
See also the NCL mutation and patient database - CLN14/KCTD7
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.

Graphical displays and utilities
Summary tables Summary of all sequence variants in the KCTD7 database, sorted by type of variant (with graphical displays and statistics)
Reading-frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage http://www.LOVD.nl/KCTD7
HGNC 21957
Entrez Gene 154881
OMIM - Gene 611725
OMIM - Disease #1 epilepsy, progressive myoclonic, type 3 (EPM-3)
OMIM - Disease #2 ceroid lipofuscinosis, neuronal, type 14 (CLN-14)
UniProtKB (SwissProt/TrEMBL) Q96MP8
GeneCards KCTD7
GeneTests KCTD7
External link #1 NCL mutation and patient database - CLN14/KCTD7
External link #2 Orphanet

Copyright & disclaimer
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