NALCN

sodium leak channel, non-selective

Summary

This gene encodes a voltage-independent, nonselective cation channel which belongs to a family of voltage-gated sodium and calcium channels that regulates the resting membrane potential and excitability of neurons. This family is expressed throughout the nervous system and conducts a persistent sodium leak current that contributes to tonic neuronal excitability. The encoded protein forms a channelosome complex that includes G-protein-coupled receptors, UNC-79, UNC-80, NCA localization factor-1, and src family tyrosine kinases. Naturally occurring mutations in this gene are associated with infantile neuroaxonal dystrophy, infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) syndrome, and congenital contractures of the limbs and face with hypotonia and developmental delay (CLIFAHDD) syndrome. A knockout of the orthologous gene in mice results in paralysis with a severely disrupted respiratory rhythm, and lethality within 24 hours after birth. [provided by RefSeq, Apr 2017]

Known Variants862 total

rsidPosition (GRCh37)AllelesClassClinVar
rs75793780213:101,707,655C/G—uncertain significance
rs250170906313:101,707,661G/A—uncertain significance
rs213937085513:101,707,670C/T—uncertain significance
rs156676114013:101,707,676C/T—uncertain significance
rs77501763813:101,707,677G/A—likely benign
rs76255459713:101,707,680G/C—uncertain significance
rs75095258513:101,707,699C/T—uncertain significance
rs101346337013:101,707,700G/A—uncertain significance
rs203108248113:101,707,708C/T—uncertain significance
rs203108541313:101,707,726C/T—uncertain significance
rs11163853713:101,707,737C/T—conflicting classifications of pathogenicity
rs37322113113:101,707,738G/A—uncertain significance
rs75529249113:101,707,739C/T—conflicting classifications of pathogenicity
rs77931031313:101,707,751G/T—uncertain significance
rs76189480913:101,707,766C/T—conflicting classifications of pathogenicity
rs105041406413:101,707,770A/G—likely benign
rs75852045713:101,707,777A/G—uncertain significance
rs89044819713:101,707,781T/C—uncertain significance
rs143253550513:101,707,784T/G—uncertain significance
rs20129795713:101,707,785C/T—likely benign
rs77083799613:101,707,786C/T—uncertain significance
rs78101022313:101,707,787T/G—likely benign
rs18938784013:101,707,798C/T—uncertain significance
rs250171245913:101,707,835T/C—uncertain significance
rs73447413:101,708,096A/T—benign
rs204411713:101,708,310G/Aintron variant—
rs203146533213:101,710,290C/T—uncertain significance
rs137998845513:101,710,297G/A—uncertain significance
rs74769450313:101,710,302C/T—uncertain significance
rs14358765213:101,710,303G/A—uncertain significance
rs203146718913:101,710,314A/C—uncertain significance
rs128958743613:101,710,317T/G—uncertain significance
rs37284348613:101,710,319C/T—likely benign
rs77570794913:101,710,334T/A—likely benign
rs98310856713:101,710,336C/T—uncertain significance
rs7881718413:101,710,337G/C—conflicting classifications of pathogenicity
rs125380348913:101,710,338T/G—uncertain significance
rs56630204813:101,710,339C/G—uncertain significance
rs75734814013:101,710,340G/A—likely benign
rs19962905213:101,710,353C/T—uncertain significance
rs97010274013:101,710,365C/T—uncertain significance
rs75604130513:101,710,370C/T—likely benign
rs77995624113:101,710,371G/A—uncertain significance
rs53421682313:101,710,374A/G—uncertain significance
rs77171448413:101,710,377G/A—uncertain significance
rs89184550513:101,710,394C/T—likely benign
rs36961321913:101,710,402T/C—uncertain significance
rs120314113313:101,710,411G/T—uncertain significance
rs37647032713:101,710,418A/C—conflicting classifications of pathogenicity
rs55595552513:101,710,419G/T—likely benign
rs1258436213:101,710,596G/A—benign
rs18728581513:101,710,613A/G—likely benign
rs14686864813:101,710,634T/G—likely benign
rs20127597213:101,712,028T/G—likely benign
rs14907648713:101,712,064T/C—likely benign
rs37508579513:101,712,154C/T—likely benign
rs7802652913:101,712,155G/A—likely benign
rs11654319213:101,712,159C/T—benign
rs77225871713:101,712,160G/A—likely benign
rs135271195513:101,712,164C/G—uncertain significance
rs77338501713:101,712,166A/G—uncertain significance
rs130350362313:101,712,172C/T—uncertain significance
rs75372580413:101,712,181T/G—uncertain significance
rs92054599913:101,712,183C/T—uncertain significance
rs76518616913:101,712,206C/T—likely benign
rs75640108613:101,712,207G/A—conflicting classifications of pathogenicity
rs75816095813:101,712,212C/G—uncertain significance
rs91190671313:101,712,225G/A—uncertain significance
rs75672916213:101,712,232C/T—uncertain significance
rs14660667613:101,712,233G/A—likely benign
rs74982654213:101,712,235T/C—uncertain significance
rs74854434813:101,712,242C/T—likely benign
rs77238005513:101,712,243G/A—uncertain significance
rs19958437813:101,712,245G/T—uncertain significance
rs86670900613:101,712,256G/A—uncertain significance
rs122075380913:101,712,292G/A—uncertain significance
rs250177025613:101,712,295T/C—uncertain significance
rs123999107413:101,712,298T/A—uncertain significance
rs75944496013:101,712,302G/A—likely benign
rs76523945213:101,712,305C/T—likely benign
rs227408513:101,712,426T/G—benign
rs1762076313:101,712,574G/A—benign
rs58250413:101,713,334G/Tdownstream gene variant—
rs733465013:101,714,029T/C—benign
rs18242670513:101,714,032G/T—likely benign
rs733612613:101,714,054C/T—benign
rs67637313:101,714,171A/G—benign
rs36785749713:101,714,302T/C—likely benign
rs76994295713:101,714,317C/T—uncertain significance
rs115814127013:101,714,319C/A—pathogenic
rs20060601713:101,714,326G/C—uncertain significance
rs76404571513:101,714,330C/T—uncertain significance
rs13913761513:101,714,347G/A—benign
rs74999604313:101,714,358G/A—uncertain significance
rs213940853213:101,714,366T/A—uncertain significance
rs77805210213:101,714,389G/T—likely benign
rs78149573413:101,714,395C/T—likely benign
rs74541104313:101,714,410C/T—likely benign
rs213940886313:101,714,421C/T—pathogenic
rs250179736013:101,714,435C/T—uncertain significance

Showing 100 of 862 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.