KCNT1

potassium sodium-activated channel subfamily T member 1

Summary

Potassium 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 sodium-activated potassium channel subunit which is thought to function in ion conductance and developmental signaling pathways. Mutations in this gene cause the early-onset epileptic disorders, malignant migrating partial seizures of infancy and autosomal dominant nocturnal frontal lobe epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]

Known Variants1,819 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1897263519:138,593,818A/G—likely benign
rs1130471999:138,593,959A/T—benign
rs9083779459:138,594,065C/T—likely benign
rs9439331679:138,594,067C/T—likely benign
rs5508386189:138,594,078C/T—likely benign
rs5629874169:138,594,089C/T—likely benign
rs1493832089:138,594,104C/A—likely benign
rs7488987089:138,594,108C/T—uncertain significance
rs24905504799:138,594,111C/T—uncertain significance
rs7684239499:138,594,113C/T—likely benign
rs7784057709:138,594,114C/T—likely benign
rs7477339799:138,594,115C/G—likely benign
rs7716691119:138,594,119C/G—uncertain significance
rs7738742669:138,594,120G/C—uncertain significance
rs10443361289:138,594,124C/T—uncertain significance
rs7474579299:138,594,126C/G—conflicting classifications of pathogenicity
rs7714239979:138,594,130C/T—uncertain significance
rs11745742889:138,594,132C/G—uncertain significance
rs1390345019:138,594,134G/T—likely benign
rs7755481589:138,594,135G/A—uncertain significance
rs10035868359:138,594,136G/A—conflicting classifications of pathogenicity
rs14453371499:138,594,138G/A—uncertain significance
rs14428522019:138,594,140C/G—likely benign
rs7641116439:138,594,142T/C—uncertain significance
rs7503745219:138,594,145G/C—conflicting classifications of pathogenicity
rs13037507399:138,594,147C/A—likely benign
rs3734464909:138,594,148G/A—uncertain significance
rs18350639269:138,594,150G/C—uncertain significance
rs7559802189:138,594,151A/T—likely benign
rs3776872379:138,594,154C/T—conflicting classifications of pathogenicity
rs14736650869:138,594,155G/A—likely benign
rs12382249619:138,594,156C/T—uncertain significance
rs7537142939:138,594,157G/T—uncertain significance
rs7546977669:138,594,158C/G—likely benign
rs7786578309:138,594,159G/C—uncertain significance
rs12454809339:138,594,161C/T—likely benign
rs21313041819:138,594,162G/C—uncertain significance
rs1462925759:138,594,163G/C—likely benign
rs7773491729:138,594,164G/A—likely benign
rs3688707059:138,594,166G/A—uncertain significance
rs5519304939:138,594,169A/G—likely benign
rs7462873759:138,594,171A/C—uncertain significance
rs24905510939:138,594,174A/C—uncertain significance
rs7758075099:138,594,177C/T—likely pathogenic
rs7641639149:138,594,178G/C—benign
rs1430155269:138,594,181C/T—likely benign
rs18350664119:138,594,183T/G—uncertain significance
rs7618699159:138,594,185C/A—uncertain significance
rs14068261819:138,594,189T/C—uncertain significance
rs24905512179:138,594,190T/G—uncertain significance
rs13856837849:138,594,194C/T—likely benign
rs7663775299:138,594,195G/T—likely benign
rs1450335979:138,594,197C/T—likely benign
rs7548238109:138,594,198G/T—conflicting classifications of pathogenicity
rs1461529569:138,594,203A/G—conflicting classifications of pathogenicity
rs7511664699:138,594,207G/A—uncertain significance
rs7720801959:138,594,208C/T—conflicting classifications of pathogenicity
rs7463152199:138,594,211C/T—uncertain significance
rs7702075829:138,594,212C/T—likely benign
rs7803315699:138,594,215G/C—uncertain significance
rs7689261969:138,594,219A/G—uncertain significance
rs24905515069:138,594,221T/A—likely benign
rs7619108539:138,594,223T/A—likely benign
rs11867991989:138,594,226T/G—likely benign
rs3773725929:138,594,230C/A—likely benign
rs3733411309:138,594,252C/T—likely benign
rs5445728179:138,594,291C/T—likely benign
rs1882103389:138,594,368G/A—likely benign
rs748279139:138,594,436A/G—likely benign
rs1898272479:138,596,737C/T—likely benign
rs1176788629:138,598,107G/Tregulatory region variant—
rs111031459:138,606,160G/T—benign
rs9972870829:138,606,327G/C—likely benign
rs13792801509:138,606,405G/C—likely benign
rs18356416119:138,606,408G/A—uncertain significance
rs7689671689:138,606,411G/C—likely benign
rs7791288539:138,606,415G/A—likely benign
rs24906045489:138,606,417C/T—likely benign
rs12554831739:138,606,419G/A—likely benign
rs13824438449:138,606,421A/T—uncertain significance
rs15882552019:138,606,424C/G—uncertain significance
rs24906046069:138,606,425G/T—uncertain significance
rs2010518639:138,606,428C/T—likely benign
rs24906046549:138,606,430T/C—uncertain significance
rs13528599899:138,606,435G/C—likely benign
rs12781866989:138,606,438G/A—likely benign
rs18356434709:138,606,441C/T—likely benign
rs7732282859:138,606,442G/T—likely benign
rs7698983469:138,606,447G/A—likely benign
rs8693126829:138,606,448C/Tmissense variantuncertain significance
rs21313292709:138,606,451C/T—likely benign
rs7628750639:138,606,455A/T—uncertain significance
rs2001373419:138,606,458C/G—likely benign
rs7512746949:138,606,459C/A—likely benign
rs7613049529:138,606,462C/A—likely benign
rs1488089789:138,606,463G/A—uncertain significance
rs15547633939:138,606,464G/C—likely benign
rs21313293459:138,606,474G/A—uncertain significance
rs24906050239:138,606,477C/T—likely benign
rs15882553139:138,606,485A/G—conflicting classifications of pathogenicity

Showing 100 of 1,819 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.