CYP11B2

cytochrome P450 family 11 subfamily B member 2

Summary

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane. The enzyme has steroid 18-hydroxylase activity to synthesize aldosterone and 18-oxocortisol as well as steroid 11 beta-hydroxylase activity. Mutations in this gene cause corticosterone methyl oxidase deficiency. [provided by RefSeq, Jul 2008]

Known Variants538 total

rsidPosition (GRCh37)AllelesClassClinVar
rs74632128:143,991,858T/Adownstream gene variant—
rs617639888:143,992,056A/T—uncertain significance
rs7455321518:143,992,119C/T—uncertain significance
rs38022288:143,992,218A/G—benign
rs8860627398:143,992,349G/A—uncertain significance
rs617639898:143,992,403T/C—uncertain significance
rs8860627408:143,992,424G/C—uncertain significance
rs3756570238:143,992,517C/T—uncertain significance
rs18175254528:143,992,520G/T—uncertain significance
rs617639908:143,992,607C/T—uncertain significance
rs10353402388:143,992,637T/A—uncertain significance
rs5702021618:143,992,650C/T—uncertain significance
rs283902008:143,992,652C/T—benign
rs8860627418:143,992,653G/A—uncertain significance
rs284913168:143,992,661C/Tintron variantbenign
rs617572848:143,992,783G/A—uncertain significance
rs18175318908:143,992,805A/C—uncertain significance
rs5591364798:143,992,817A/G—conflicting classifications of pathogenicity
rs3759380978:143,992,830G/A—conflicting classifications of pathogenicity
rs724991208:143,992,859G/A—benign
rs38022308:143,992,864C/Aintron variantbenign
rs2014877788:143,992,892G/A—uncertain significance
rs8860627428:143,992,965T/G—uncertain significance
rs5281716958:143,993,097C/T—uncertain significance
rs13807552138:143,993,098G/T—uncertain significance
rs92979758:143,993,157A/G—benign
rs12965381928:143,993,191C/T—uncertain significance
rs7738112828:143,993,192G/C—uncertain significance
rs30978:143,993,315C/Tregulatory region variantbenign
rs18175424888:143,993,371T/G—uncertain significance
rs24886976388:143,993,399G/A—likely benign
rs1411796808:143,993,405C/T—likely benign
rs21303231718:143,993,408T/C—likely benign
rs725546268:143,993,416T/Cmissense variantpathogenic
rs10180416558:143,993,423G/A—likely benign
rs7581668448:143,993,429C/T—likely benign
rs18175443328:143,993,432G/T—likely benign
rs15865732448:143,993,437G/A—pathogenic
rs1394089118:143,993,443A/G—likely benign
rs11845568988:143,993,447G/A—likely benign
rs7568547018:143,993,450G/A—likely benign
rs18175454228:143,993,454T/C—uncertain significance
rs24886977048:143,993,456G/C—likely benign
rs18175457288:143,993,467T/A—uncertain significance
rs14594824638:143,993,468G/A—likely benign
rs21303233888:143,993,480T/G—likely benign
rs21303233948:143,993,482G/A—likely benign
rs12384295648:143,993,488C/T—uncertain significance
rs24886977318:143,993,490A/T—uncertain significance
rs18175463808:143,993,492C/T—likely benign
rs3748443188:143,993,501C/T—likely benign
rs12243361898:143,993,509C/T—uncertain significance
rs7731242688:143,993,521G/A—likely benign
rs3705980868:143,993,524G/C—likely benign
rs18175535328:143,993,927C/A—likely benign
rs7739810258:143,993,929C/T—likely benign
rs7616434128:143,993,932C/T—likely benign
rs7673915788:143,993,934A/G—likely benign
rs18175539968:143,993,936G/A—conflicting classifications of pathogenicity
rs13840871828:143,993,937C/G—likely benign
rs13609038148:143,993,939T/G—likely benign
rs7659274568:143,993,944A/C—pathogenic
rs5398364298:143,993,945C/T—pathogenic
rs18175544208:143,993,951G/A—uncertain significance
rs7803252828:143,993,954G/A—likely benign
rs24886981518:143,993,958C/T—likely benign
rs725546278:143,993,962A/Gmissense variantpathogenic
rs24886981608:143,993,967C/T—likely benign
rs18175551018:143,993,973C/T—likely benign
rs13870155468:143,993,976T/G—likely benign
rs7461243578:143,993,987G/T—likely benign
rs7699550478:143,993,988C/T—likely benign
rs3711265958:143,993,991G/A—likely benign
rs8788529888:143,993,994G/Tstop gainedpathogenic
rs24886981978:143,993,995C/T—likely pathogenic
rs13114444608:143,994,001C/T—conflicting classifications of pathogenicity
rs3762488578:143,994,002G/C—likely pathogenic
rs5444543898:143,994,003C/T—conflicting classifications of pathogenicity
rs7533490348:143,994,010A/G—uncertain significance
rs7590958048:143,994,012G/A—likely benign
rs11828807408:143,994,015A/G—likely benign
rs14118027088:143,994,018G/A—likely benign
rs14779507458:143,994,021C/T—likely benign
rs11699668248:143,994,024G/A—likely benign
rs21303246748:143,994,027G/A—likely benign
rs1437313088:143,994,030G/A—likely benign
rs24886982448:143,994,039G/A—likely benign
rs45458:143,994,041C/Tmissense variantbenign
rs7644651668:143,994,042G/A—likely benign
rs7520675168:143,994,043G/T—uncertain significance
rs11915155698:143,994,047C/A—uncertain significance
rs9753737728:143,994,051G/A—likely benign
rs18175579458:143,994,054G/A—likely benign
rs7730992618:143,994,065G/A—uncertain significance
rs21303248028:143,994,068G/A—pathogenic
rs755068168:143,994,072A/G—likely benign
rs2017364168:143,994,078C/G—likely benign
rs7766800438:143,994,079C/T—uncertain significance
rs7591836948:143,994,080G/A—uncertain significance
rs7647927018:143,994,081C/A—uncertain significance

Showing 100 of 538 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.