The KCNQ4 gene homepage

General information
Gene symbol KCNQ4
Gene name potassium voltage-gated channel, KQT-like subfamily, member 4
Chromosome 1
Chromosomal band p34
Imprinted Unknown
Genomic reference LRG_1378
Transcript reference NM_004700.3
Exon/intron information NM_004700.3 exon/intron table
Associated with diseases DFNA2A
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 109
Unique public DNA variants reported 94
Individuals with public variants 43
Hidden variants 2
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 May 03, 2013
Date last updated May 09, 2022
Version KCNQ4:220509

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_004700.3.
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/KCNQ4
HGNC 6298
Entrez Gene 9132
PubMed articles KCNQ4
OMIM - Gene 603537
OMIM - Diseases DFNA2A (deafness, autosomal dominant, type 2A (DFNA-2A))
HGMD KCNQ4
GeneCards KCNQ4
GeneTests KCNQ4
Orphanet KCNQ4


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00010416 1 transcript variant 1 NM_004700.3 NP_004691.2 109


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