LOVD KCNQ1 homepage

General information
Gene name potassium voltage-gated channel, KQT-like subfamily, member 1
Gene symbol KCNQ1
Chromosome Location 11p15.5
Database location https://research.cchmc.org/LOVD2/
Curator Ammar Husami
PubMed references View all (unique) PubMed references in the KCNQ1 database
Date of creation January 26, 2007
Last update April 22, 2010
Version KCNQ1 100422
Add sequence variant Submit a sequence variant
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Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NG_008935.1
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 333
Total number of individuals with variant(s) 2
Total number of variants reported 333
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the KCNQ1 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

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the KCNQ1 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the KCNQ1 database
Variants with no known pathogenicity Listing of all KCNQ1 variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)
Download table Download the full sequence variant table of the KCNQ1 database in tab-delimited text format.

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
External link #1 Deafness Gene Mutation Database
External link #2 The Hereditary Hearing loss Homepage
External link #3 Reference mRNA NM_000218.2
External link #4 Reference protien NP_000209.2
Entrez Gene 3784
OMIM - Gene 607542
HGMD KCNQ1
GeneTests KCNQ1

For research use. Husami et al. 2006-2010