SLC26A5

solute carrier family 26 member 5

Summary

This gene encodes a member of the SLC26A/SulP transporter family. The protein functions as a molecular motor in motile outer hair cells (OHCs) of the cochlea, inducing changes in cell length that act to amplify sound levels. The transmembrane protein is an incomplete anion transporter, and does not allow anions to cross the cell membrane but instead undergoes a conformational change in response to changes in intracellular Cl- levels that results in a change in cell length. The protein functions at microsecond rates, which is several orders of magnitude faster than conventional molecular motor proteins. Mutations in this gene are potential candidates for causing neurosensory deafness. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2009]

Known Variants198 total

rsidPosition (GRCh37)AllelesClassClinVar
rs119783397:102,993,026A/G—benign
rs358504347:102,993,085T/C—benign
rs731758507:102,993,095G/T—likely benign
rs5677319857:103,003,796A/G—likely benign
rs283759137:103,014,580A/G—benign
rs1874582517:103,014,627C/A—likely benign
rs3757536967:103,014,818T/C—likely benign
rs5520500257:103,014,844A/T—likely benign
rs7566657327:103,014,856G/A—uncertain significance
rs24851405497:103,014,860T/C—uncertain significance
rs2009234837:103,014,869T/A—uncertain significance
rs18211937437:103,014,875T/G—uncertain significance
rs5345307227:103,014,897A/C—likely benign
rs1507268517:103,014,904G/A—conflicting classifications of pathogenicity
rs1383207837:103,014,906C/T—likely benign
rs1441157307:103,014,913T/C—conflicting classifications of pathogenicity
rs8674257917:103,014,920C/T—uncertain significance
rs3746205247:103,014,960A/G—likely benign
rs7496517027:103,014,971G/A—uncertain significance
rs7620043587:103,015,002A/G—conflicting classifications of pathogenicity
rs1446814757:103,015,014C/A—uncertain significance
rs2010604257:103,015,015C/T—uncertain significance
rs7763789257:103,015,016G/A—uncertain significance
rs1887384047:103,015,044T/C—likely benign
rs624824127:103,017,023C/T—benign
rs726553937:103,017,148A/G—benign
rs1996502687:103,017,236A/T—likely benign
rs9601428087:103,017,240T/C—likely benign
rs1447279977:103,017,277A/G—likely benign
rs3722877167:103,017,286G/T—likely benign
rs2000137387:103,017,288C/T—uncertain significance
rs13783766867:103,017,296T/C—uncertain significance
rs102738837:103,018,016A/G—benign
rs18214485017:103,018,043T/A—uncertain significance
rs24851547687:103,018,045C/T—likely pathogenic
rs18214501037:103,018,069C/T—uncertain significance
rs1485463267:103,018,088T/G—conflicting classifications of pathogenicity
rs5326959977:103,018,093T/C—uncertain significance
rs24851550487:103,018,096A/G—uncertain significance
rs1427788637:103,018,117C/T—likely benign
rs5675070627:103,018,125C/T—uncertain significance
rs1510406007:103,018,127T/C—likely benign
rs7600003647:103,018,161G/C—uncertain significance
rs1441509407:103,018,183G/A—conflicting classifications of pathogenicity
rs1485380567:103,018,204C/T—conflicting classifications of pathogenicity
rs1428497547:103,018,219T/C—likely benign
rs24851558967:103,018,220A/G—likely benign
rs5486171207:103,018,243C/T—uncertain significance
rs1147032877:103,018,478T/C—likely benign
rs11969880957:103,018,894G/T—uncertain significance
rs3688894847:103,018,910C/T—uncertain significance
rs7689871107:103,018,932G/A—likely benign
rs1997451957:103,018,943C/T—uncertain significance
rs5770378697:103,018,944G/A—likely benign
rs24851592657:103,018,966C/G—uncertain significance
rs1465476727:103,018,979T/C—conflicting classifications of pathogenicity
rs24851595087:103,019,012A/C—likely benign
rs624824137:103,019,323C/G—benign
rs127051207:103,019,613A/G—benign
rs1931108727:103,019,709C/T—uncertain significance
rs7475336907:103,019,714C/A—uncertain significance
rs1384326677:103,019,777T/C—benign
rs18216838067:103,020,911T/C—likely benign
rs1913584707:103,020,939G/A—likely benign
rs7614067917:103,020,956C/T—uncertain significance
rs5662082917:103,020,972C/A—uncertain significance
rs24851679347:103,020,997C/T—likely pathogenic
rs1153028597:103,021,039C/T—likely benign
rs726553957:103,021,040G/A—benign
rs1886550567:103,021,248C/T—likely benign
rs799973857:103,029,268T/C—benign
rs7275044817:103,029,454C/T—not provided
rs7275034337:103,029,512T/C—not provided
rs7684592007:103,029,528A/T—uncertain significance
rs2020567127:103,029,560G/T—uncertain significance
rs7707453857:103,029,574C/T—likely benign
rs7809294617:103,029,784T/C—uncertain significance
rs7776763067:103,029,828A/C—uncertain significance
rs13908375807:103,029,834C/T—uncertain significance
rs1426395177:103,029,848A/G—likely benign
rs1379326257:103,029,859C/T—uncertain significance
rs7735449317:103,029,861G/A—uncertain significance
rs15635290627:103,029,872C/T—likely pathogenic
rs726553927:103,029,888C/A—likely benign
rs624824157:103,029,915A/G—benign
rs563736607:103,029,920G/A—benign
rs726553917:103,029,947C/T—benign
rs42854107:103,030,581C/T—benign
rs46043537:103,030,664C/G—benign
rs12803364577:103,030,856C/T—likely benign
rs1428320907:103,030,863A/G—likely benign
rs3975179627:103,030,873C/A—uncertain significance
rs7750344957:103,030,875C/A—likely pathogenic
rs726553807:103,030,885T/C—benign
rs18225524567:103,030,888T/G—uncertain significance
rs1393930397:103,030,943C/A—conflicting classifications of pathogenicity
rs21164718277:103,030,963A/G—likely benign
rs797232337:103,031,171T/C—benign
rs726553887:103,031,777T/C—benign
rs745840817:103,031,926C/T—benign

Showing 100 of 198 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.