DHCR7

7-dehydrocholesterol reductase

Summary

This gene encodes an enzyme that removes the C(7-8) double bond in the B ring of sterols and catalyzes the conversion of 7-dehydrocholesterol to cholesterol. This gene is ubiquitously expressed and its transmembrane protein localizes to the endoplasmic reticulum membrane and nuclear outer membrane. Mutations in this gene cause Smith-Lemli-Opitz syndrome (SLOS); a syndrome that is metabolically characterized by reduced serum cholesterol levels and elevated serum 7-dehydrocholesterol levels and phenotypically characterized by cognitive disability, facial dysmorphism, syndactyly of second and third toes, and holoprosencephaly in severe cases to minimal physical abnormalities and near-normal intelligence in mild cases. Alternative splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Aug 2009]

Known Variants734 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1240711:71,145,631G/A—uncertain significance
rs54128265311:71,145,642A/G—uncertain significance
rs77713793111:71,145,656C/T—uncertain significance
rs88604861111:71,145,660T/A—uncertain significance
rs5804629511:71,145,666G/A—uncertain significance
rs769011:71,145,687T/C—benign
rs102454857611:71,145,698G/T—uncertain significance
rs88604861211:71,145,721C/T—uncertain significance
rs88604861311:71,145,740A/G—uncertain significance
rs88604861411:71,145,777C/T—uncertain significance
rs104453511:71,145,778G/A—benign
rs7932007111:71,145,856C/T—likely benign
rs179034511:71,145,941G/A—benign
rs1123366211:71,145,970T/C—likely benign
rs88604861511:71,145,983C/T—uncertain significance
rs88604861611:71,145,997C/T—uncertain significance
rs53742916011:71,146,004G/A—uncertain significance
rs7857583811:71,146,063G/A—likely benign
rs75905804311:71,146,097G/A—uncertain significance
rs88604861711:71,146,160C/T—uncertain significance
rs18555759511:71,146,195G/A—conflicting classifications of pathogenicity
rs11533856311:71,146,229G/A—uncertain significance
rs15123095011:71,146,302C/T—conflicting classifications of pathogenicity
rs146673075311:71,146,320G/C—uncertain significance
rs52837521511:71,146,336G/A—uncertain significance
rs91854508011:71,146,358C/A—uncertain significance
rs18296537311:71,146,364G/A—uncertain significance
rs11414371511:71,146,393C/A—conflicting classifications of pathogenicity
rs77820709411:71,146,396C/T—uncertain significance
rs74753252911:71,146,401C/A—uncertain significance
rs53751576611:71,146,414C/T—likely benign
rs37130756911:71,146,417G/A—uncertain significance
rs120261941311:71,146,422T/C—likely benign
rs77503458411:71,146,423A/Gstop lostpathogenic
rs147887290411:71,146,425A/G—conflicting classifications of pathogenicity
rs253920751411:71,146,430T/A—likely benign
rs213593938011:71,146,433A/C—likely benign
rs146602717011:71,146,436C/T—likely benign
rs37599319511:71,146,439C/T—conflicting classifications of pathogenicity
rs133133109511:71,146,440A/T—pathogenic
rs132378370611:71,146,441G/A—likely benign
rs253920760611:71,146,442G/A—likely benign
rs20115038411:71,146,443C/Tmissense variantuncertain significance
rs14866099311:71,146,444G/A—uncertain significance
rs194926281211:71,146,445G/C—pathogenic
rs124554980811:71,146,447A/G—uncertain significance
rs75021172711:71,146,450G/A—likely pathogenic
rs213593941611:71,146,451C/T—likely benign
rs253920766011:71,146,452A/G—conflicting classifications of pathogenicity
rs76042843711:71,146,453C/Tmissense variantpathogenic
rs253920767411:71,146,454T/A—likely benign
rs125321355011:71,146,456C/A—uncertain significance
rs36828186911:71,146,457G/A—likely benign
rs56678484211:71,146,459C/T—uncertain significance
rs20047738611:71,146,460G/A—conflicting classifications of pathogenicity
rs145350022811:71,146,463G/T—uncertain significance
rs213593944711:71,146,464T/C—likely pathogenic
rs20127045111:71,146,465A/Gmissense variantpathogenic
rs19950685211:71,146,468G/A—uncertain significance
rs253920779911:71,146,469C/T—likely benign
rs77783819611:71,146,470T/C—uncertain significance
rs155514555011:71,146,473C/T—pathogenic
rs253920781811:71,146,476T/C—uncertain significance
rs88604312211:71,146,479C/T—uncertain significance
rs37187303211:71,146,480G/A—uncertain significance
rs14456247111:71,146,481G/A—conflicting classifications of pathogenicity
rs20184719311:71,146,483C/T—uncertain significance
rs55709741011:71,146,484G/T—pathogenic
rs194926408911:71,146,485T/A—uncertain significance
rs14785043511:71,146,487C/T—conflicting classifications of pathogenicity
rs213593947811:71,146,489T/A—pathogenic
rs253920789511:71,146,490G/A—uncertain significance
rs253920791711:71,146,493G/A—likely benign
rs14040064811:71,146,495C/T—conflicting classifications of pathogenicity
rs95131379811:71,146,496G/A—likely benign
rs132514474911:71,146,497C/A—likely pathogenic
rs76145897711:71,146,498A/Gmissense variantpathogenic
rs77201634211:71,146,499G/C—likely benign
rs54226696211:71,146,500C/T—conflicting classifications of pathogenicity
rs76515414411:71,146,501G/A—likely pathogenic
rs96366909511:71,146,502G/A—likely benign
rs8033886411:71,146,507C/Tmissense variantpathogenic
rs13972177511:71,146,508G/A—likely benign
rs20171614911:71,146,511C/G—likely benign
rs75160469611:71,146,512C/Tmissense variantpathogenic
rs14504367911:71,146,513G/A—conflicting classifications of pathogenicity
rs78168734111:71,146,521C/Amissense variantpathogenic
rs53556185211:71,146,522G/Amissense variantpathogenic
rs253920819311:71,146,523G/A—likely benign
rs194926561611:71,146,524T/C—conflicting classifications of pathogenicity
rs213593953311:71,146,525G/C—likely pathogenic
rs136539412911:71,146,526G/A—likely benign
rs74972888811:71,146,528T/C—uncertain significance
rs138172210711:71,146,531G/A—likely benign
rs213593955111:71,146,534G/A—likely benign
rs77875003911:71,146,535G/C—uncertain significance
rs213593956411:71,146,544G/A—likely benign
rs138504886811:71,146,550G/A—likely benign
rs124412421211:71,146,552T/C—uncertain significance
rs156558467911:71,146,554T/C—pathogenic

Showing 100 of 734 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.