SCN4B

sodium voltage-gated channel beta subunit 4

Summary

The protein encoded by this gene is one of several sodium channel beta subunits. These subunits interact with voltage-gated alpha subunits to change sodium channel kinetics. The encoded transmembrane protein forms interchain disulfide bonds with SCN2A. Defects in this gene are a cause of long QT syndrome type 10 (LQT10). Three protein-coding and one non-coding transcript variant have been found for this gene.[provided by RefSeq, Mar 2009]

Known Variants269 total

rsidPosition (GRCh37)AllelesClassClinVar
rs14996336811:118,004,193C/T—uncertain significance
rs14539207011:118,004,463C/T—likely benign
rs374131511:118,004,688G/A—likely benign
rs75185509011:118,004,738C/T—uncertain significance
rs36972067411:118,004,765T/C—uncertain significance
rs7677624211:118,004,790C/T—likely benign
rs75763199011:118,004,803C/G—conflicting classifications of pathogenicity
rs57065451111:118,004,824T/C—likely benign
rs4558483511:118,004,863A/G—likely benign
rs88604771611:118,004,866A/G—uncertain significance
rs7754842611:118,004,957G/A—likely benign
rs86834411:118,005,119T/C—likely benign
rs88604771711:118,005,151C/A—uncertain significance
rs18142901511:118,005,245C/T—uncertain significance
rs11434575411:118,005,246G/A—likely benign
rs88604771811:118,005,255C/G—uncertain significance
rs88604771911:118,005,418T/A—uncertain significance
rs88604772011:118,005,474G/A—uncertain significance
rs19073712411:118,005,522C/A—uncertain significance
rs76947260711:118,005,546C/T—uncertain significance
rs56544776511:118,005,605G/C—uncertain significance
rs4546039611:118,005,622T/G—likely benign
rs37593386311:118,005,662C/A—uncertain significance
rs793499411:118,005,780G/A—likely benign
rs11747180111:118,005,900C/G—likely benign
rs4553974111:118,005,922C/T—uncertain significance
rs53480270911:118,005,923G/A—uncertain significance
rs20093058711:118,005,932G/A—uncertain significance
rs4554813411:118,006,312C/T—uncertain significance
rs88604772211:118,006,332G/A—uncertain significance
rs88604772311:118,006,399G/A—uncertain significance
rs712412711:118,006,408T/C—likely benign
rs88604772411:118,006,549A/G—uncertain significance
rs179315811:118,006,578C/T—likely benign
rs11726385511:118,006,671A/G—likely benign
rs19198966911:118,006,689A/G—likely benign
rs88604772511:118,006,735C/T—uncertain significance
rs55903279911:118,006,755G/C—likely benign
rs2867574611:118,006,756G/A—uncertain significance
rs54126860711:118,006,763G/T—likely benign
rs56149272211:118,006,781T/C—uncertain significance
rs56517426511:118,006,837G/C—likely benign
rs11357942811:118,006,853T/C—likely benign
rs54935308811:118,006,874G/T—uncertain significance
rs131754411:118,006,930T/C—uncertain significance
rs181496411:118,006,957C/T—likely benign
rs88604772711:118,007,062G/T—uncertain significance
rs18261392711:118,007,072C/A—uncertain significance
rs88604772811:118,007,253A/G—uncertain significance
rs53948770311:118,007,271T/A—likely benign
rs6727690911:118,007,293C/T—uncertain significance
rs88604772911:118,007,308A/G—uncertain significance
rs7254668111:118,007,380C/A—likely benign
rs116763075411:118,007,414C/T—benign
rs88604773011:118,007,484A/T—uncertain significance
rs57471954711:118,007,534T/G—benign
rs194801768211:118,007,584G/A—benign
rs56702594611:118,007,617G/A—benign
rs75993636411:118,007,732G/A—benign
rs7907100611:118,007,735G/A—likely benign
rs249754865011:118,007,743C/G—uncertain significance
rs155509640111:118,007,750T/C—uncertain significance
rs135290029011:118,007,756G/C—uncertain significance
rs99207947011:118,007,768C/G—uncertain significance
rs123588022711:118,007,771C/T—uncertain significance
rs249754884511:118,007,777A/C—uncertain significance
rs37160975611:118,007,780C/A—uncertain significance
rs100121964111:118,007,782G/A—uncertain significance
rs194802319711:118,007,788C/A—uncertain significance
rs36798827711:118,007,789C/T—likely benign
rs7254415511:118,007,790G/A—benign
rs11190516011:118,007,796C/T—likely benign
rs20145465311:118,007,797G/C—conflicting classifications of pathogenicity
rs141886481611:118,007,799G/A—likely benign
rs37187235311:118,007,802G/A—likely benign
rs77044650011:118,007,805A/G—likely benign
rs249754907311:118,007,809C/A—uncertain significance
rs77392179011:118,007,811C/T—likely benign
rs14034824311:118,007,812G/Amissense variantuncertain significance
rs76118322811:118,007,816A/T—uncertain significance
rs144623992811:118,007,819T/C—uncertain significance
rs15031204611:118,007,822C/T—conflicting classifications of pathogenicity
rs104719275311:118,007,823G/A—likely benign
rs76531432111:118,007,829C/T—likely benign
rs75070786011:118,007,830T/C—uncertain significance
rs37259638211:118,007,832C/T—likely benign
rs75862843711:118,007,833T/C—uncertain significance
rs37553503011:118,007,837T/C—uncertain significance
rs116256061211:118,007,841G/A—likely benign
rs75593744411:118,007,842A/T—likely benign
rs77761558411:118,007,850A/G—likely benign
rs6654946111:118,007,915T/G—benign
rs7644772011:118,011,648G/A—likely benign
rs66846811:118,011,776G/A—benign
rs64428711:118,011,805T/C—benign
rs1280455011:118,011,860G/A—benign
rs75180284411:118,011,912A/G—likely benign
rs123044634911:118,011,926T/C—uncertain significance
rs75591546511:118,011,931C/T—conflicting classifications of pathogenicity
rs94549095011:118,011,932G/A—uncertain significance

Showing 100 of 269 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.