KCNC1

potassium voltage-gated channel subfamily C member 1

Summary

This gene encodes a member of a family of integral membrane proteins that mediate the voltage-dependent potassium ion permeability of excitable membranes. Alternative splicing is thought to result in two transcript variants encoding isoforms that differ at their C-termini. These isoforms have had conflicting names in the literature: the longer isoform has been called both "b" and "alpha", while the shorter isoform has been called both "a" and "beta" (PMIDs 1432046, 12091563). [provided by RefSeq, Oct 2014]

Known Variants387 total

rsidPosition (GRCh37)AllelesClassClinVar
rs3610199611:17,757,417A/C—benign
rs184876156111:17,757,560G/A—uncertain significance
rs148723824111:17,757,564C/T—uncertain significance
rs213377392911:17,757,565G/C—uncertain significance
rs213377393211:17,757,571G/T—likely pathogenic
rs148910730111:17,757,579C/T—likely benign
rs213377394011:17,757,585C/A—likely benign
rs142356947011:17,757,600G/A—likely benign
rs99372847811:17,757,609G/A—likely benign
rs115819319211:17,757,617G/A—uncertain significance
rs249773583311:17,757,620C/G—uncertain significance
rs7692985811:17,757,621G/A—benign
rs249773586211:17,757,623C/T—uncertain significance
rs76221855311:17,757,627G/C—likely benign
rs136711847211:17,757,633G/A—likely benign
rs184876253611:17,757,639C/A—likely benign
rs213377400311:17,757,640G/C—uncertain significance
rs14063756911:17,757,645G/A—likely benign
rs37074233111:17,757,651C/A—likely benign
rs249773592811:17,757,654C/G—likely benign
rs20067735311:17,757,663G/A—likely benign
rs159008884511:17,757,669C/G—likely benign
rs119215609011:17,757,670G/A—uncertain significance
rs249773603311:17,757,679A/G—uncertain significance
rs77345539011:17,757,680G/A—uncertain significance
rs147061330511:17,757,682C/T—uncertain significance
rs249773604911:17,757,683A/G—uncertain significance
rs184876344811:17,757,687C/G—uncertain significance
rs213377409011:17,757,696C/T—likely benign
rs76307668111:17,757,697C/T—uncertain significance
rs118061748511:17,757,699G/C—likely benign
rs139332710511:17,757,708C/A—uncertain significance
rs213377413411:17,757,725G/A—uncertain significance
rs156515268811:17,757,732C/T—likely benign
rs75104245911:17,757,751C/T—likely benign
rs184876402111:17,757,764G/T—uncertain significance
rs76044661611:17,757,768G/C—likely benign
rs156515271311:17,757,772A/G—uncertain significance
rs130985018111:17,757,777G/A—likely benign
rs128845981211:17,757,786A/C—likely benign
rs122329042111:17,757,789C/A—likely benign
rs97649651011:17,757,795G/T—likely benign
rs213377421411:17,757,798C/T—likely benign
rs36863442011:17,757,804G/A—likely benign
rs123934269711:17,757,805C/T—uncertain significance
rs92323444411:17,757,807C/G—likely benign
rs213377422611:17,757,810C/T—likely benign
rs184876485311:17,757,831G/T—uncertain significance
rs134547884811:17,757,834C/T—likely benign
rs249773640711:17,757,869T/C—uncertain significance
rs100977167511:17,757,873G/A—likely benign
rs159008893211:17,757,876C/T—likely benign
rs249773643711:17,757,881A/G—uncertain significance
rs132137054711:17,757,882G/A—likely benign
rs75783530311:17,757,894C/T—likely benign
rs133173552611:17,757,904C/T—likely benign
rs74848397711:17,757,940G/A—uncertain significance
rs184876590111:17,757,941C/A—uncertain significance
rs120862602111:17,757,942C/T—likely benign
rs77044511311:17,757,943G/A—uncertain significance
rs90668919511:17,757,950C/T—uncertain significance
rs159008900211:17,757,951G/A—likely benign
rs213377437611:17,757,957C/T—likely benign
rs184876638911:17,757,958G/A—uncertain significance
rs75088584611:17,757,969C/A—likely benign
rs37636376911:17,757,970G/T—conflicting classifications of pathogenicity
rs97794778211:17,757,972C/G—uncertain significance
rs184876689211:17,757,977G/A—uncertain significance
rs129856965611:17,757,981C/T—likely benign
rs75977331111:17,757,982G/C—uncertain significance
rs76759838111:17,757,984C/T—likely benign
rs249773672611:17,757,988G/A—uncertain significance
rs127929932111:17,757,990C/G—uncertain significance
rs213377445211:17,757,991G/A—uncertain significance
rs53402301411:17,758,008G/A—likely benign
rs126104096211:17,758,014G/T—likely benign
rs20083014711:17,758,017G/T—likely benign
rs123500460711:17,758,028C/T—uncertain significance
rs78065796311:17,758,032G/C—likely benign
rs143643573511:17,758,035T/A—uncertain significance
rs57050857611:17,758,036G/A—uncertain significance
rs184876799811:17,758,038C/T—likely benign
rs75654474811:17,758,039C/T—likely pathogenic
rs20009731011:17,758,041G/A—likely benign
rs74979055711:17,758,043C/T—conflicting classifications of pathogenicity
rs184876821911:17,758,046G/A—uncertain significance
rs127457558111:17,758,048G/T—uncertain significance
rs78075812711:17,758,049G/A—uncertain significance
rs128663271311:17,758,060C/T—uncertain significance
rs77452521611:17,758,061G/A—uncertain significance
rs119791130711:17,758,072C/T—uncertain significance
rs74589046711:17,758,075A/T—uncertain significance
rs249773698911:17,758,077C/G—uncertain significance
rs249773700511:17,758,084C/T—uncertain significance
rs249773701711:17,758,089C/T—likely benign
rs184876888411:17,758,097C/G—uncertain significance
rs156515289811:17,758,103C/T—uncertain significance
rs123911023411:17,758,107C/T—likely benign
rs102728616111:17,758,112A/G—uncertain significance
rs213377463711:17,758,130A/G—likely benign

Showing 100 of 387 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.