KCNH1

potassium voltage-gated channel subfamily H member 1

Summary

Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit of a voltage-gated non-inactivating delayed rectifier potassium channel. It is activated at the onset of myoblast differentiation. The gene is highly expressed in brain and in myoblasts. Overexpression of the gene may confer a growth advantage to cancer cells and favor tumor cell proliferation. Alternative splicing of this gene results in two transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]

Known Variants621 total

rsidPosition (GRCh37)AllelesClassClinVar
rs31354731:210,856,585G/T—benign
rs346893821:210,856,604T/G—benign
rs2012351891:210,856,617G/A—likely benign
rs5720304861:210,856,626G/C—uncertain significance
rs7485463521:210,856,630G/C—benign
rs3712621981:210,856,631C/A—likely benign
rs7705100701:210,856,636A/G—conflicting classifications of pathogenicity
rs16813182521:210,856,641G/C—uncertain significance
rs3742399011:210,856,643C/G—uncertain significance
rs7698837701:210,856,646T/C—uncertain significance
rs1452482271:210,856,651G/A—uncertain significance
rs16813188901:210,856,652A/C—likely benign
rs16813192401:210,856,658G/A—uncertain significance
rs13349772881:210,856,663T/C—uncertain significance
rs7735522981:210,856,665T/G—likely benign
rs7607770551:210,856,666G/A—uncertain significance
rs7665306651:210,856,671C/T—likely benign
rs7539398271:210,856,672G/A—likely benign
rs16813198721:210,856,681A/C—uncertain significance
rs16813199291:210,856,682A/G—benign
rs25463688931:210,856,684A/C—uncertain significance
rs7531485261:210,856,688C/T—uncertain significance
rs25463689061:210,856,690T/C—uncertain significance
rs7588619341:210,856,692A/T—likely benign
rs25463689211:210,856,699T/C—uncertain significance
rs8956244091:210,856,729A/T—uncertain significance
rs15741775481:210,856,736C/G—uncertain significance
rs13725289851:210,856,742G/A—uncertain significance
rs7756262691:210,856,749C/G—uncertain significance
rs9298165831:210,856,754T/C—uncertain significance
rs12383764041:210,856,756T/C—uncertain significance
rs16813234001:210,856,758G/A—likely benign
rs7491786601:210,856,761C/T—uncertain significance
rs16813237841:210,856,764T/G—likely benign
rs1112529331:210,856,769C/T—likely benign
rs1430918081:210,856,770G/A—likely benign
rs7652931331:210,856,781T/G—uncertain significance
rs25463690901:210,856,793T/C—uncertain significance
rs7532387241:210,856,796G/T—uncertain significance
rs3706438081:210,856,799C/T—uncertain significance
rs5273880921:210,856,800G/A—likely benign
rs21490006611:210,856,805T/C—uncertain significance
rs1404354781:210,856,814G/C—conflicting classifications of pathogenicity
rs1145717851:210,856,818T/A—benign
rs25463691421:210,856,822G/T—uncertain significance
rs1409398261:210,856,825T/G—likely benign
rs7796799101:210,856,829G/C—likely benign
rs7563747751:210,856,830C/T—likely benign
rs7685019271:210,856,831G/A—likely benign
rs25463691911:210,856,841G/A—uncertain significance
rs7769003091:210,856,854C/T—likely benign
rs3750003011:210,856,855G/A—uncertain significance
rs21490007141:210,856,858T/G—uncertain significance
rs7597196511:210,856,860C/T—likely benign
rs13135655301:210,856,863G/C—likely benign
rs12039492811:210,856,865C/T—uncertain significance
rs1411443171:210,856,866C/T—likely benign
rs25463692331:210,856,867T/G—uncertain significance
rs3677225121:210,856,885C/T—likely benign
rs11673878241:210,856,886G/A—uncertain significance
rs7645125501:210,856,889C/G—uncertain significance
rs7520444891:210,856,898T/C—conflicting classifications of pathogenicity
rs25463692821:210,856,904C/T—uncertain significance
rs25463692871:210,856,909C/T—uncertain significance
rs2009698781:210,856,911C/G—likely benign
rs7679882401:210,856,912A/C—uncertain significance
rs3712561671:210,856,913C/T—likely benign
rs7683478641:210,856,924C/T—uncertain significance
rs12236907471:210,856,927A/G—uncertain significance
rs7787330371:210,856,931C/T—uncertain significance
rs1474117791:210,856,932G/A—likely benign
rs25463694171:210,856,935C/G—uncertain significance
rs7718906641:210,856,938G/A—likely benign
rs25463694271:210,856,944G/A—likely benign
rs25463694281:210,856,946C/T—uncertain significance
rs14480547451:210,856,947A/G—likely benign
rs21490007771:210,856,954C/T—benign
rs7475518771:210,856,956C/T—likely benign
rs21490007831:210,856,957G/A—uncertain significance
rs16813298611:210,856,967T/G—uncertain significance
rs25463694831:210,856,969T/C—uncertain significance
rs25463694871:210,856,970T/C—uncertain significance
rs7629541061:210,856,973G/T—uncertain significance
rs21490007981:210,856,979C/G—uncertain significance
rs7687673851:210,856,982C/T—benign
rs1404913011:210,856,983G/A—benign
rs11353181:210,856,989C/T—likely benign
rs7737354921:210,856,990G/A—conflicting classifications of pathogenicity
rs13452023291:210,856,998C/A—uncertain significance
rs25463695521:210,857,002T/C—uncertain significance
rs7659549671:210,857,004G/A—likely benign
rs25463695621:210,857,007A/T—likely benign
rs16813312461:210,857,010T/C—likely benign
rs7534751751:210,857,019C/T—likely benign
rs21490008441:210,857,028C/T—likely benign
rs15584210091:210,857,029T/G—uncertain significance
rs25463696831:210,857,032G/A—uncertain significance
rs7776458331:210,857,037C/T—likely benign
rs21490008561:210,857,039T/C—uncertain significance
rs7468090341:210,857,040G/A—likely benign

Showing 100 of 621 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.