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 MingQi_Lab
Curator Ming Qi, PhD, FACMG, Peikuan Cong and Tao Zhang
Database reference for citations Pan M et al, 2011 Zhang T et al, 2010
PubMed references View all (unique) PubMed references in the KCNQ1 database
Date of creation April 21, 2013
Last update May 29, 2014
Version KCNQ1 140529
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Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NG_008935.1
Transcript refseq ID NM_000218.2
Total number of unique DNA variants reported 488
Total number of individuals with variant(s) 973
Total number of variants reported 988
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NOTE This gene encodes a voltage-gated potassium channel required for repolarization phase of the cardiac action potential. This protein can form heteromultimers with two other potassium channel proteins, KCNE1 and KCNE3. Mutations in this gene are associated with hereditary long QT syndrome 1 (also known as Romano-Ward syndrome), Jervell and Lange-Nielsen syndrome, and familial atrial fibrillation. This gene exhibits tissue-specific imprinting, with preferential expression from the maternal allele in some tissues, and biallelic expression in others. This gene is located in a region of chromosome 11 amongst other imprinted genes that are associated with Beckwith-Wiedemann syndrome (BWS), and itself has been shown to be disrupted by chromosomal rearrangements in patients with BWS. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011]
Also known as: LQT; RWS; WRS; LQT1; SQT2; ATFB1; ATFB3; JLNS1; KCNA8; KCNA9; Kv1.9; Kv7.1; KVLQT1

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)
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 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)

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
Search through hidden entries Find the number of variant entries in the database (including hidden entries) matching your search terms.

Links to other resources
Homepage http://www.genomed.org/lovd2/home.php?select_db=KCNQ1
HGNC 6294
Entrez Gene 3784
OMIM - Gene 607542
OMIM - Disease #1 long QT syndrome type 1 (LQT1)
OMIM - Disease #2 Jervell and Lange-Nielsen syndrome type 1 (JLNS1)
OMIM - Disease #3 familial atrial fibrillation type 3 (ATFB3)
OMIM - Disease #4 short QT syndrome type 2 (SQT2)
UniProtKB (SwissProt/TrEMBL) P51787
HGMD KCNQ1
GeneCards KCNQ1
GeneTests KCNQ1
External link #1 KCNQ1 (KVLQT1)
External link #2 Harvard Medical School Center for Hereditary Deafness

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