The KCNQ1OT1 gene homepage

General information
Gene symbol KCNQ1OT1
Gene name KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
Chromosome 11
Chromosomal band p15.5
Imprinted Imprinted, maternal
Genomic reference NG_016178.2
Transcript reference NR_002728.2
Associated with diseases BWS, ID
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 23
Unique public DNA variants reported 14
Individuals with public variants 4
Hidden variants 1
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Date created June 25, 2012
Date last updated September 17, 2021
Version KCNQ1OT1:210917

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/KCNQ1OT1
HGNC 6295
Entrez Gene 10984
PubMed articles KCNQ1OT1
OMIM - Gene 604115
OMIM - Diseases BWS (Beckwith-Wiedemann syndrome (BWS))
HGMD KCNQ1OT1
GeneCards KCNQ1OT1
GeneTests KCNQ1OT1
Orphanet KCNQ1OT1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000239 11 KCNQ1 overlapping transcript 1 (non-protein coding) NR_002728.2 - 23


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