RLBP1

retinaldehyde binding protein 1

Summary

The protein encoded by this gene is a 36-kD water-soluble protein which carries 11-cis-retinaldehyde or 11-cis-retinal as physiologic ligands. It may be a functional component of the visual cycle. Mutations of this gene have been associated with severe rod-cone dystrophy, Bothnia dystrophy (nonsyndromic autosomal recessive retinitis pigmentosa) and retinitis punctata albescens. [provided by RefSeq, Jul 2008]

Known Variants327 total

rsidPosition (GRCh37)AllelesClassClinVar
rs76642004615:89,753,113A/G—uncertain significance
rs11527501315:89,753,136G/A—likely benign
rs19023697615:89,753,160C/T—conflicting classifications of pathogenicity
rs88605150015:89,753,182A/G—uncertain significance
rs803978715:89,753,194G/A—benign
rs205152283015:89,753,215A/T—uncertain significance
rs271015:89,753,220C/T—benign
rs100006496715:89,753,260C/T—uncertain significance
rs802571915:89,753,274T/G—likely benign
rs15063650115:89,753,299T/G—conflicting classifications of pathogenicity
rs128176566415:89,753,304C/T—uncertain significance
rs83415:89,753,349A/C—benign
rs205152419015:89,753,381C/T—uncertain significance
rs78132143315:89,753,534A/T—likely benign
rs250585466715:89,753,539G/A—uncertain significance
rs74583422915:89,753,543C/T—likely benign
rs76966623215:89,753,545G/A—uncertain significance
rs14461549515:89,753,546G/C—conflicting classifications of pathogenicity
rs74882924815:89,753,549G/T—likely benign
rs76841783015:89,753,553A/G—uncertain significance
rs121970824815:89,753,561C/T—likely benign
rs205152620815:89,753,563C/G—uncertain significance
rs250585477915:89,753,564A/G—likely benign
rs77366748615:89,753,569C/A—uncertain significance
rs76667262215:89,753,570G/A—likely benign
rs133696171515:89,753,573C/T—likely benign
rs77712072715:89,753,577C/T—conflicting classifications of pathogenicity
rs205152650215:89,753,578C/T—uncertain significance
rs76554567615:89,753,585C/T—likely benign
rs74651665115:89,753,594C/T—likely benign
rs20158817815:89,753,595G/A—conflicting classifications of pathogenicity
rs76429499915:89,753,600C/T—likely benign
rs20175216415:89,753,603G/A—likely benign
rs75612969515:89,753,606G/A—likely benign
rs36797201315:89,753,621G/A—likely benign
rs250585496015:89,753,627A/G—likely benign
rs74916223815:89,753,629C/T—uncertain significance
rs159618028815:89,753,630G/A—likely benign
rs205152724315:89,753,631A/G—uncertain significance
rs77866571915:89,753,638G/A—likely pathogenic
rs74778601415:89,753,646C/T—uncertain significance
rs14057018915:89,753,653G/A—likely benign
rs37216500715:89,753,662C/T—uncertain significance
rs6264001715:89,753,663G/A—conflicting classifications of pathogenicity
rs20091743715:89,753,674C/T—likely benign
rs250585505115:89,753,678C/T—likely benign
rs87972420215:89,753,679A/C—likely benign
rs20186693315:89,753,680G/A—conflicting classifications of pathogenicity
rs7402995815:89,753,681G/C—conflicting classifications of pathogenicity
rs76328445915:89,753,683A/G—likely benign
rs250585506615:89,753,684A/G—likely benign
rs250585506915:89,753,686C/A—likely benign
rs250585507315:89,753,687A/G—likely benign
rs19994799615:89,753,694A/T—likely benign
rs127963001815:89,753,911G/C—likely benign
rs20215523815:89,753,913G/A—benign
rs20114837015:89,753,914C/T—likely benign
rs18186344315:89,753,915G/A—conflicting classifications of pathogenicity
rs250585563815:89,753,918C/T—likely benign
rs37150795415:89,753,921C/T—benign
rs102199154515:89,753,922G/T—likely benign
rs135794384615:89,753,923T/C—likely benign
rs215096867115:89,753,930C/T—uncertain significance
rs76905274515:89,753,936A/T—likely benign
rs77454681015:89,753,946C/T—uncertain significance
rs205153052615:89,753,949T/G—uncertain significance
rs250585572815:89,753,950T/C—uncertain significance
rs78620549415:89,753,952A/Cmissense variantpathogenic
rs134630247115:89,753,954G/A—likely benign
rs250585574115:89,753,957G/A—likely benign
rs76202075315:89,753,963G/A—likely benign
rs131156622515:89,753,969A/C—uncertain significance
rs76752264915:89,753,970T/C—uncertain significance
rs15114184215:89,753,972G/T—pathogenic
rs250585579915:89,753,975G/T—likely benign
rs75966918515:89,753,978C/T—likely benign
rs14013161715:89,753,979G/A—uncertain significance
rs79472790015:89,753,981G/A—uncertain significance
rs250585581415:89,753,987G/A—likely benign
rs77744160515:89,753,989A/G—uncertain significance
rs205153094915:89,753,990C/T—pathogenic
rs205153105815:89,753,993T/C—likely benign
rs75124255515:89,753,996C/T—likely benign
rs78057820015:89,754,009T/A—uncertain significance
rs136288857315:89,754,011G/A—likely benign
rs215096871415:89,754,015G/A—uncertain significance
rs15031879415:89,754,024C/T—uncertain significance
rs2893399015:89,754,025G/Cmissense variantuncertain significance
rs14646257015:89,754,026G/T—likely benign
rs135131323415:89,754,037A/T—uncertain significance
rs55494486015:89,754,044C/T—likely benign
rs145300173815:89,754,045G/A—likely benign
rs76196674615:89,754,048G/A—likely benign
rs205153190415:89,754,051A/G—likely benign
rs36777512715:89,754,056G/A—likely benign
rs159618066515:89,754,059A/T—likely benign
rs7276262815:89,754,216A/G—benign
rs95054015:89,754,864C/T—benign
rs95054115:89,754,954G/A—benign
rs205153967415:89,754,961C/T—likely benign

Showing 100 of 327 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.