LRAT

lecithin retinol acyltransferase

Summary

The protein encoded by this gene localizes to the endoplasmic reticulum, where it catalyzes the esterification of all-trans-retinol into all-trans-retinyl ester. This reaction is an important step in vitamin A metabolism in the visual system. Mutations in this gene have been associated with early-onset severe retinal dystrophy and Leber congenital amaurosis 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]

Known Variants221 total

rsidPosition (GRCh37)AllelesClassClinVar
rs772243484:155,665,177G/T—likely benign
rs8860591594:155,665,261C/G—uncertain significance
rs8860591604:155,665,292C/T—uncertain significance
rs1130180204:155,665,361C/T—uncertain significance
rs8860591614:155,665,381A/C—uncertain significance
rs1178514764:155,665,466T/C—uncertain significance
rs1996341664:155,665,486A/G—conflicting classifications of pathogenicity
rs12048017594:155,665,487C/T—likely benign
rs1444716734:155,665,489C/A—uncertain significance
rs14909362684:155,665,499G/A—likely benign
rs17328311774:155,665,504T/C—uncertain significance
rs14287865054:155,665,505G/A—likely benign
rs14535730564:155,665,509T/C—likely benign
rs7682555324:155,665,518G/T—likely pathogenic
rs7762861184:155,665,524C/A—uncertain significance
rs25299719224:155,665,544C/T—likely benign
rs11912399174:155,665,547G/A—likely benign
rs7519352134:155,665,550C/T—likely benign
rs753687614:155,665,552T/A—likely benign
rs8690252354:155,665,556T/A—uncertain significance
rs1417052694:155,665,558C/G—uncertain significance
rs3724696444:155,665,559G/T—likely benign
rs17328337304:155,665,561G/A—uncertain significance
rs10424436744:155,665,567C/T—uncertain significance
rs7779627864:155,665,575G/A—uncertain significance
rs17328345284:155,665,577C/A—uncertain significance
rs9958957234:155,665,589C/G—uncertain significance
rs25299722194:155,665,597A/C—uncertain significance
rs21110323384:155,665,604C/T—likely benign
rs7582865704:155,665,610T/C—likely benign
rs25299722514:155,665,615A/G—uncertain significance
rs7799961594:155,665,617C/T—pathogenic
rs8927971114:155,665,618G/T—uncertain significance
rs13674302364:155,665,622C/T—likely benign
rs13122815214:155,665,625C/G—uncertain significance
rs13844660584:155,665,627T/G—likely pathogenic
rs25299723494:155,665,630T/C—uncertain significance
rs7467559134:155,665,631G/A—likely benign
rs7684883374:155,665,637G/C—likely benign
rs5272360794:155,665,641C/Gmissense variantpathogenic
rs7693444544:155,665,643G/A—likely benign
rs7727129684:155,665,646C/T—likely benign
rs7624023954:155,665,649C/T—likely benign
rs7715198664:155,665,652G/C—likely benign
rs17328376634:155,665,655C/A—likely benign
rs7750496754:155,665,659T/A—uncertain significance
rs14170303804:155,665,668T/C—uncertain significance
rs7599534714:155,665,670C/T—likely benign
rs15608707264:155,665,675G/A—uncertain significance
rs7680656314:155,665,676A/C—likely benign
rs7758389164:155,665,683C/T—uncertain significance
rs7642245064:155,665,691C/T—likely benign
rs7662798924:155,665,702C/T—conflicting classifications of pathogenicity
rs25299726834:155,665,704G/A—uncertain significance
rs7547629284:155,665,709C/G—uncertain significance
rs7862056444:155,665,711——pathogenic
rs12519435264:155,665,717C/T—uncertain significance
rs17328398794:155,665,718C/T—likely benign
rs17328399544:155,665,719C/T—likely benign
rs7479006284:155,665,722A/G—uncertain significance
rs25299727604:155,665,727C/T—likely benign
rs13060137144:155,665,728G/A—uncertain significance
rs7683890444:155,665,736G/A—conflicting classifications of pathogenicity
rs25299728704:155,665,760C/T—likely benign
rs5587257654:155,665,772C/A—likely benign
rs25299729294:155,665,775G/A—likely benign
rs10352066454:155,665,776G/A—conflicting classifications of pathogenicity
rs13966488644:155,665,777G/A—uncertain significance
rs7706087064:155,665,778C/T—conflicting classifications of pathogenicity
rs7749983174:155,665,792T/A—uncertain significance
rs9206855644:155,665,794G/A—conflicting classifications of pathogenicity
rs5328899314:155,665,797A/G—uncertain significance
rs21110328274:155,665,804G/T—uncertain significance
rs17328432004:155,665,817G/A—likely benign
rs170319814:155,665,820G/A—likely benign
rs15788603224:155,665,824T/C—conflicting classifications of pathogenicity
rs5373259424:155,665,837C/G—uncertain significance
rs9078054844:155,665,842A/G—uncertain significance
rs7674758904:155,665,845C/T—likely benign
rs15608709964:155,665,852A/G—uncertain significance
rs17328450504:155,665,860G/C—uncertain significance
rs10293290834:155,665,862C/G—uncertain significance
rs9446430024:155,665,863G/C—uncertain significance
rs1478555594:155,665,876A/C—uncertain significance
rs1398190994:155,665,881G/T—uncertain significance
rs5724571984:155,665,889C/G—likely benign
rs3723447394:155,665,892C/A—uncertain significance
rs25299733454:155,665,896G/A—uncertain significance
rs14127299294:155,665,898G/A—likely benign
rs17328469194:155,665,906G/T—uncertain significance
rs25299733874:155,665,907G/C—likely benign
rs12936895644:155,665,919G/A—likely benign
rs7620802674:155,665,922G/C—likely benign
rs14703510554:155,665,939A/G—uncertain significance
rs15608711454:155,665,940C/A—pathogenic
rs13665752604:155,665,944C/T—likely benign
rs25299735154:155,665,949G/A—likely benign
rs25299735214:155,665,950T/C—uncertain significance
rs8788533514:155,665,951G/Astop gainedpathogenic
rs2020660764:155,665,954A/G—uncertain significance

Showing 100 of 221 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.