LOVD KCND3 homepage

General information
Gene name Potassium voltage-gated channel, Shal-related subfamily, member 3
Gene symbol KCND3
Chromosome Location 1p13.2
Database location http://grenada.lumc.nl/LOVD2/shared1
Curator John Giudicessi
PubMed references View all (unique) PubMed references in the KCND3 database
Date of creation January 17, 2012
Last update January 21, 2012
Version KCND3 120121
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_032011.1
Transcript refseq ID NM_004980.4
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 3
Total number of individuals with variant(s) 3
Total number of variants reported 3
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NOTE 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 KCND3 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

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the KCND3 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the KCND3 database
Variants with no known pathogenicity Listing of all KCND3 variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)

Search the database
By type of variant View all sequence variants of a certain type
Simple search Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)
Advanced search Query the database by selecting a combination of variables
Based on patient origin View all variants based on your patient origin search terms

Links to other resources
Homepage http://www.LOVD.nl/KCND3
HGNC 6239
Entrez Gene 3752
OMIM - Gene 605411
UniProtKB (SwissProt/TrEMBL) Q9UK17
GeneCards KCND3
GeneTests KCND3
External link Orphanet

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 © 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.