CACNA1G

calcium voltage-gated channel subunit alpha1 G

Summary

Voltage-sensitive calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division, and cell death. This gene encodes a T-type, low-voltage activated calcium channel. The T-type channels generate currents that are both transient, owing to fast inactivation, and tiny, owing to small conductance. T-type channels are thought to be involved in pacemaker activity, low-threshold calcium spikes, neuronal oscillations and resonance, and rebound burst firing. Many alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Sep 2011]

Known Variants941 total

rsidPosition (GRCh37)AllelesClassClinVar
rs6205971817:48,638,215G/A—benign
rs203556332217:48,638,833G/C—uncertain significance
rs121951856517:48,638,879T/C—uncertain significance
rs89287876517:48,638,888A/C—uncertain significance
rs254443160617:48,638,890G/A—uncertain significance
rs120850587117:48,638,892C/G—conflicting classifications of pathogenicity
rs55783398817:48,638,893C/T—likely benign
rs94713122817:48,638,897C/G—conflicting classifications of pathogenicity
rs57798792617:48,638,898G/A—likely benign
rs75258272217:48,638,906G/A—uncertain significance
rs60745817:48,638,909G/A—uncertain significance
rs127547441417:48,638,923G/A—uncertain significance
rs77762811417:48,638,943G/C—likely benign
rs135890228317:48,638,966A/T—uncertain significance
rs130331854217:48,638,975C/G—uncertain significance
rs125070062717:48,638,976G/A—likely benign
rs135036793617:48,638,984C/T—conflicting classifications of pathogenicity
rs76901050017:48,638,985G/A—likely benign
rs77701155117:48,639,012G/A—likely benign
rs254443802417:48,639,035G/A—uncertain significance
rs76734768017:48,639,081C/G—uncertain significance
rs7952526217:48,639,367C/A—benign
rs77164900017:48,646,242G/A—uncertain significance
rs105752192617:48,646,250A/G—uncertain significance
rs139293657317:48,646,267C/G—likely benign
rs37036116217:48,646,273C/T—likely benign
rs20114696917:48,646,274G/A—likely benign
rs96310768517:48,646,292C/T—uncertain significance
rs76381323317:48,646,293G/A—conflicting classifications of pathogenicity
rs75030508617:48,646,310G/A—likely benign
rs57629533317:48,646,318C/T—benign
rs126420264617:48,646,325C/A—likely pathogenic
rs203866804417:48,646,326G/A—uncertain significance
rs78124094817:48,646,332G/A—uncertain significance
rs254468432717:48,646,338T/G—uncertain significance
rs214463941917:48,646,590G/A—uncertain significance
rs254469747417:48,646,613C/T—likely benign
rs18432870517:48,646,649G/A—conflicting classifications of pathogenicity
rs36856145717:48,646,652A/T—conflicting classifications of pathogenicity
rs214464047817:48,646,655G/A—uncertain significance
rs143978464517:48,646,665G/A—uncertain significance
rs203880398117:48,646,667C/G—likely benign
rs77635282617:48,646,668C/T—likely benign
rs254469869417:48,646,672G/A—likely benign
rs1294680817:48,647,011T/G—benign
rs146942156317:48,647,047C/T—likely benign
rs125498955117:48,647,081C/T—uncertain significance
rs214465724517:48,647,110G/A—uncertain significance
rs156796499517:48,647,122G/C—uncertain significance
rs214465775017:48,647,129T/G—uncertain significance
rs203894013717:48,647,138C/T—uncertain significance
rs159805817517:48,647,154C/T—likely benign
rs123259766317:48,647,156G/A—uncertain significance
rs135483568317:48,647,158G/C—uncertain significance
rs74565105217:48,647,173C/A—likely benign
rs203894761717:48,647,174C/T—likely benign
rs254477551917:48,649,242T/G—likely pathogenic
rs139351998917:48,649,245G/A—uncertain significance
rs75765285817:48,649,258G/A—likely benign
rs55694446917:48,649,273G/A—likely benign
rs155563814117:48,649,275T/C—likely pathogenic
rs254477607617:48,649,278C/T—likely pathogenic
rs203952484317:48,649,284T/C—likely pathogenic
rs37742164717:48,649,291C/T—likely benign
rs75576895417:48,649,300G/A—likely benign
rs97074232817:48,649,313G/A—uncertain significance
rs20002165117:48,649,315C/T—benign
rs37706902117:48,649,327C/T—likely benign
rs37438747617:48,649,336C/T—likely benign
rs76089405317:48,649,339C/T—likely benign
rs76879687217:48,649,340G/A—conflicting classifications of pathogenicity
rs76693254417:48,649,384T/C—likely benign
rs5995098317:48,649,405G/T—likely benign
rs5695714017:48,649,406G/T—likely benign
rs74571669917:48,649,414G/A—likely benign
rs11634860217:48,649,658T/C—likely benign
rs19854617:48,649,758T/C—benign
rs91697917:48,649,777C/G—benign
rs119602757817:48,649,915C/G—likely benign
rs254479534517:48,649,922A/G—uncertain significance
rs75678335617:48,649,928G/A—uncertain significance
rs146895682617:48,649,958G/A—uncertain significance
rs125160412817:48,649,968G/A—uncertain significance
rs214475996817:48,649,970C/T—uncertain significance
rs78118598517:48,649,991C/T—likely benign
rs74823842717:48,649,992G/A—uncertain significance
rs55557108717:48,649,993C/T—uncertain significance
rs19960420017:48,649,999C/T—likely benign
rs77130413017:48,650,007G/A—uncertain significance
rs5779053717:48,650,020C/T—likely benign
rs5688541317:48,650,026C/A—likely benign
rs20087226217:48,650,028C/T—likely benign
rs77320522317:48,650,029G/A—likely benign
rs76124150617:48,650,033C/T—conflicting classifications of pathogenicity
rs37230994517:48,650,034G/A—uncertain significance
rs6060051317:48,650,035C/A—likely benign
rs76609999817:48,650,036G/A—uncertain significance
rs75146717217:48,650,041C/T—likely benign
rs54626198917:48,650,044G/A—likely benign
rs20205524617:48,650,048G/A—conflicting classifications of pathogenicity

Showing 100 of 941 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.