KCNQ1

potassium voltage-gated channel subfamily Q member 1

Summary

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]

Known Variants1,624 total

rsidPosition (GRCh37)AllelesClassClinVar
rs4547809511:2,465,944C/G—likely benign
rs116496889111:2,466,216C/A—benign
rs88604815911:2,466,260G/A—uncertain significance
rs56246887911:2,466,274G/C—uncertain significance
rs88604816011:2,466,291C/T—conflicting classifications of pathogenicity
rs53294154811:2,466,324T/C—conflicting classifications of pathogenicity
rs130084668411:2,466,325C/A—uncertain significance
rs76392445911:2,466,326G/A—uncertain significance
rs19947344111:2,466,329A/Gmissense variantpathogenic
rs19947348511:2,466,330T/Amissense variantpathogenic
rs213355932911:2,466,332G/A—uncertain significance
rs19947344211:2,466,333C/Gmissense variantpathogenic
rs249674042611:2,466,335G/C—uncertain significance
rs79472854311:2,466,336C/G—uncertain significance
rs249674043911:2,466,337G/A—likely benign
rs249674046611:2,466,343C/T—likely benign
rs19947344311:2,466,347C/Tmissense variantuncertain significance
rs77396680211:2,466,349G/C—likely benign
rs146969836011:2,466,354G/C—uncertain significance
rs147722553411:2,466,356G/A—uncertain significance
rs88604816111:2,466,357C/A—uncertain significance
rs126499662511:2,466,358C/G—likely benign
rs95944910311:2,466,359G/Amissense variantuncertain significance
rs249674060311:2,466,360A/G—uncertain significance
rs213355938211:2,466,364G/A—likely benign
rs79472854411:2,466,365A/Tstop gainedpathogenic
rs106050062211:2,466,366A/G—uncertain significance
rs19947344411:2,466,368C/T—not provided
rs142401309411:2,466,369G/T—uncertain significance
rs213355940511:2,466,373G/T—uncertain significance
rs158988418511:2,466,379G/A—pathogenic
rs158988419611:2,466,390C/T—uncertain significance
rs79472854511:2,466,392G/C—uncertain significance
rs88604816211:2,466,394C/T—uncertain significance
rs249674089711:2,466,396C/T—uncertain significance
rs99077834511:2,466,398C/T—uncertain significance
rs158988421011:2,466,402G/C—uncertain significance
rs249674099011:2,466,408G/A—uncertain significance
rs79472854611:2,466,409C/A—uncertain significance
rs76708969611:2,466,411C/G—uncertain significance
rs249674103911:2,466,413G/A—uncertain significance
rs249674104611:2,466,414G/T—uncertain significance
rs184601546711:2,466,417T/C—uncertain significance
rs155495804311:2,466,422A/T—pathogenic
rs252201611:2,466,427G/A—likely benign
rs91528307411:2,466,430C/A—pathogenic
rs137337940611:2,466,432C/T—uncertain significance
rs96869565511:2,466,433C/A—likely benign
rs75008831111:2,466,439G/C—likely benign
rs138651321311:2,466,442G/A—likely benign
rs155495804511:2,466,443G/T—likely pathogenic
rs145045187811:2,466,451G/A—likely benign
rs155495804711:2,466,452G/T—likely pathogenic
rs105752040011:2,466,457C/T—likely benign
rs184601704211:2,466,458G/C—uncertain significance
rs117395467911:2,466,462C/G—uncertain significance
rs184601730211:2,466,463G/C—likely benign
rs19947367111:2,466,464G/Amissense variantuncertain significance
rs119412512111:2,466,465C/A—likely benign
rs106050398511:2,466,472C/G—likely benign
rs213355963411:2,466,475G/T—likely benign
rs121434134511:2,466,480A/G—uncertain significance
rs39750809611:2,466,481C/Gstop gainedpathogenic
rs105752045611:2,466,487C/T—likely benign
rs249674159011:2,466,490C/T—conflicting classifications of pathogenicity
rs92164697911:2,466,493G/T—likely benign
rs213355970311:2,466,496C/G—likely benign
rs19947344511:2,466,498G/Tmissense variantuncertain significance
rs249674168811:2,466,499C/A—likely benign
rs184601834911:2,466,500G/A—uncertain significance
rs184601848811:2,466,502C/T—likely benign
rs155495805911:2,466,503C/G—uncertain significance
rs140346755911:2,466,505A/G—likely benign
rs127325728711:2,466,509C/A—uncertain significance
rs249674181211:2,466,511C/T—likely benign
rs79472855411:2,466,512G/A—likely benign
rs130637252511:2,466,514G/C—likely benign
rs128071798811:2,466,515C/A—uncertain significance
rs139869367211:2,466,517C/G—likely benign
rs155495806211:2,466,518C/T—uncertain significance
rs136037674411:2,466,520T/C—likely benign
rs252201911:2,466,522C/T—uncertain significance
rs184601951711:2,466,523G/T—likely benign
rs19947344611:2,466,525C/Amissense variantuncertain significance
rs76591360711:2,466,528C/G—uncertain significance
rs58778100911:2,466,535G/T—likely benign
rs79472854811:2,466,536C/A—uncertain significance
rs249674202411:2,466,537C/T—uncertain significance
rs77837793011:2,466,538C/T—likely benign
rs74615565211:2,466,541C/A—likely benign
rs184602038411:2,466,542G/C—uncertain significance
rs19947267611:2,466,545C/Amissense variantpathogenic
rs138000300511:2,466,550A/G—likely benign
rs36781735211:2,466,553T/C—conflicting classifications of pathogenicity
rs252202011:2,466,556C/T—likely benign
rs77434996211:2,466,558C/T—uncertain significance
rs136973332911:2,466,559C/T—likely benign
rs184602095411:2,466,560G/C—uncertain significance
rs184602100811:2,466,561A/C—uncertain significance
rs249674226911:2,466,563C/T—uncertain significance

Showing 100 of 1,624 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.