ABCC9

ATP binding cassette subfamily C member 9

Summary

The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein is thought to form ATP-sensitive potassium channels in cardiac, skeletal, and vascular and non-vascular smooth muscle. Protein structure suggests a role as the drug-binding channel-modulating subunit of the extra-pancreatic ATP-sensitive potassium channels. Mutations in this gene are associated with cardiomyopathy dilated type 1O. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2011]

Known Variants1,441 total

rsidPosition (GRCh37)AllelesClassClinVar
rs11490613112:21,953,959A/G—benign
rs18077003512:21,953,971C/T—likely benign
rs87665773612:21,953,973C/G—uncertain significance
rs14331035512:21,953,990G/A—likely benign
rs77337707012:21,953,991C/A—uncertain significance
rs213707994112:21,953,998A/C—uncertain significance
rs254076443612:21,954,000G/C—uncertain significance
rs72750453812:21,954,059A/G—likely benign
rs12190930412:21,954,091C/Tmissense variantpathogenic
rs18649304812:21,954,092C/T—likely benign
rs55481199312:21,954,093G/A—not provided
rs1763092212:21,957,838G/T—likely benign
rs213710390412:21,958,106G/A—uncertain significance
rs194174523512:21,958,108C/G—uncertain significance
rs194174619012:21,958,114G/C—uncertain significance
rs254079116612:21,958,117G/T—likely benign
rs38790680512:21,958,118G/A—pathogenic
rs75443755112:21,958,127A/G—conflicting classifications of pathogenicity
rs213710424412:21,958,130G/A—uncertain significance
rs74800898412:21,958,131T/C—uncertain significance
rs37285966912:21,958,145T/C—uncertain significance
rs14854703512:21,958,148T/C—conflicting classifications of pathogenicity
rs135600394012:21,958,150G/A—likely benign
rs194174957612:21,958,152G/A—uncertain significance
rs57272190712:21,958,154G/T—uncertain significance
rs54273091812:21,958,155C/T—conflicting classifications of pathogenicity
rs77620732612:21,958,156G/A—likely benign
rs148680797112:21,958,161A/G—likely benign
rs118884397812:21,958,163T/C—uncertain significance
rs14287510312:21,958,167G/A—conflicting classifications of pathogenicity
rs194175326812:21,958,184A/T—uncertain significance
rs156567958412:21,958,185C/T—uncertain significance
rs15063155012:21,958,187A/T—conflicting classifications of pathogenicity
rs13970325812:21,958,188A/T—likely benign
rs121037906112:21,958,189A/C—uncertain significance
rs213710500212:21,958,194C/T—uncertain significance
rs213710502512:21,958,195C/A—uncertain significance
rs141624788512:21,958,199G/C—uncertain significance
rs138359637312:21,958,200A/T—uncertain significance
rs134027254212:21,958,206C/T—uncertain significance
rs254079214612:21,958,212C/T—uncertain significance
rs75449253112:21,958,214A/C—uncertain significance
rs7255975112:21,958,221C/T—conflicting classifications of pathogenicity
rs88737400112:21,958,222A/G—likely benign
rs194175852112:21,958,224C/T—uncertain significance
rs87665773712:21,958,239C/T—uncertain significance
rs77766109512:21,958,241C/T—uncertain significance
rs39751719112:21,958,242G/A—conflicting classifications of pathogenicity
rs194176069212:21,958,244T/C—uncertain significance
rs254079248612:21,958,245G/T—uncertain significance
rs77070820112:21,958,248G/A—uncertain significance
rs159192818812:21,958,253G/A—likely benign
rs155517615512:21,958,259T/C—likely benign
rs213710566812:21,958,260A/G—likely benign
rs254079264712:21,958,261G/A—likely benign
rs140730345712:21,958,265A/G—likely benign
rs82906012:21,958,399G/C—benign
rs15124307912:21,958,636T/C—likely benign
rs128609413912:21,958,915C/T—likely benign
rs37614781312:21,958,916G/A—likely benign
rs75216939612:21,958,922T/C—likely benign
rs254079755112:21,958,924A/G—likely benign
rs37164643312:21,958,925T/C—likely benign
rs213710993812:21,958,931C/T—uncertain significance
rs77759154412:21,958,932A/T—conflicting classifications of pathogenicity
rs213710998612:21,958,946C/T—uncertain significance
rs106050481112:21,958,947G/A—likely benign
rs213711005012:21,958,951C/T—uncertain significance
rs102062666912:21,958,952G/A—uncertain significance
rs72750500112:21,958,974T/C—likely benign
rs137389112512:21,958,980T/C—likely benign
rs254079810112:21,958,990T/C—uncertain significance
rs194181524512:21,958,995C/T—likely pathogenic
rs74614145312:21,959,000A/G—likely benign
rs254079830912:21,959,002A/G—likely benign
rs159193081612:21,959,004A/G—likely benign
rs105587214212:21,959,005A/G—likely benign
rs53129588612:21,959,008A/T—benign
rs74940491112:21,959,012T/G—likely benign
rs76872628812:21,959,013G/A—likely benign
rs11265295412:21,960,076G/A—benign
rs74945796112:21,960,262C/T—likely benign
rs148256284312:21,960,273C/A—likely benign
rs36807966012:21,960,292A/G—likely benign
rs213711793812:21,960,318T/A—uncertain significance
rs254080608312:21,960,321G/A—uncertain significance
rs105752182012:21,960,322A/Cmissense variantpathogenic
rs93132032912:21,960,324T/A—uncertain significance
rs86703445312:21,960,335C/T—uncertain significance
rs254080617712:21,960,336G/C—uncertain significance
rs37165329212:21,960,337G/C—likely benign
rs194193008312:21,960,338A/C—uncertain significance
rs53050659912:21,960,340A/G—likely benign
rs254080629012:21,960,353A/C—uncertain significance
rs254080631612:21,960,354G/A—likely pathogenic
rs118016173412:21,960,358A/G—likely benign
rs137001908512:21,960,363G/A—likely benign
rs72750478512:21,960,364C/T—likely benign
rs194193145612:21,960,367T/C—likely benign
rs254080646812:21,960,372G/A—uncertain significance

Showing 100 of 1,441 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.