CYP11B1

cytochrome P450 family 11 subfamily B member 1

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 and is involved in the conversion of progesterone to cortisol in the adrenal cortex. Mutations in this gene cause congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]

Known Variants636 total

rsidPosition (GRCh37)AllelesClassClinVar
rs617528218:143,953,602C/Tdownstream gene variant—
rs10393479908:143,953,810C/T—uncertain significance
rs18168253308:143,953,845C/T—uncertain significance
rs2016266838:143,953,860T/G—uncertain significance
rs617528188:143,953,918A/T—likely benign
rs47363128:143,953,937A/C—benign
rs3694480458:143,954,019T/A—uncertain significance
rs9979608698:143,954,166C/G—uncertain significance
rs5439358078:143,954,167G/A—uncertain significance
rs8860627338:143,954,199C/G—uncertain significance
rs11340968:143,954,223C/A—benign
rs14253774358:143,954,239G/A—uncertain significance
rs617528148:143,954,277C/T—likely benign
rs10332724868:143,954,278G/A—uncertain significance
rs11340958:143,954,290G/Adownstream gene variantbenign
rs13258540858:143,954,313C/G—uncertain significance
rs5511256578:143,954,354A/G—uncertain significance
rs617528128:143,954,372C/T—benign
rs8860627348:143,954,431A/G—uncertain significance
rs9738769828:143,954,476G/A—uncertain significance
rs18168417808:143,954,493T/C—uncertain significance
rs617528098:143,954,501T/C—benign
rs5473561068:143,954,525T/G—uncertain significance
rs617528088:143,954,531C/T—likely benign
rs18168429078:143,954,536C/A—uncertain significance
rs7575056518:143,954,580G/A—uncertain significance
rs8860627358:143,954,625C/T—uncertain significance
rs617528068:143,954,713G/A—likely benign
rs70033198:143,954,747T/C—benign
rs50172388:143,954,769G/A—benign
rs18168472608:143,954,777T/G—uncertain significance
rs13125376848:143,954,843C/T—uncertain significance
rs617528058:143,954,866C/G—benign
rs7481032748:143,954,888C/T—uncertain significance
rs3707257798:143,954,932A/G—uncertain significance
rs1495201108:143,954,941G/A—conflicting classifications of pathogenicity
rs53048:143,955,051C/T—benign
rs7486840628:143,955,052G/A—uncertain significance
rs1894792088:143,955,071A/C—likely benign
rs53038:143,955,095A/G—benign
rs8795371318:143,955,119T/G—uncertain significance
rs11374818:143,955,155C/T—likely benign
rs7726163568:143,955,175G/A—uncertain significance
rs11374808:143,955,176T/C—uncertain significance
rs18168562268:143,955,182G/A—uncertain significance
rs18168563158:143,955,193G/T—uncertain significance
rs53018:143,955,273T/A—uncertain significance
rs8860627368:143,955,294G/A—uncertain significance
rs8860627378:143,955,304G/C—uncertain significance
rs125435988:143,955,318T/G—benign
rs1148328948:143,955,321G/A—likely benign
rs617528018:143,955,389G/A—uncertain significance
rs5587498288:143,955,399T/C—uncertain significance
rs3681954058:143,955,444G/T—uncertain significance
rs52998:143,955,471T/C—benign
rs5676231588:143,955,472A/G—uncertain significance
rs5386086888:143,955,544G/C—uncertain significance
rs18168627818:143,955,545G/A—uncertain significance
rs617527988:143,955,596T/A—likely benign
rs52978:143,955,657A/G—benign
rs24886744088:143,955,792G/A—likely benign
rs24886744238:143,955,798G/A—likely benign
rs18168671928:143,955,801T/C—likely benign
rs13025446458:143,955,807G/A—likely benign
rs24886744488:143,955,810G/C—likely benign
rs7767664708:143,955,813G/A—conflicting classifications of pathogenicity
rs24886744878:143,955,825G/T—uncertain significance
rs18168678328:143,955,830G/A—uncertain significance
rs7504282788:143,955,835A/G—pathogenic
rs3737367658:143,955,836A/G—conflicting classifications of pathogenicity
rs15638675128:143,955,841A/G—uncertain significance
rs3745172388:143,955,850A/T—conflicting classifications of pathogenicity
rs7785841048:143,955,858T/C—uncertain significance
rs5762928448:143,955,861G/A—likely benign
rs7724739328:143,955,863C/T—uncertain significance
rs12370192588:143,955,876T/C—likely benign
rs7596223368:143,955,879C/T—likely benign
rs7699322768:143,955,884C/G—uncertain significance
rs7758342128:143,955,885C/T—likely benign
rs7674906588:143,955,897C/T—likely benign
rs7502320718:143,955,899G/A—likely benign
rs24886746528:143,955,903C/G—conflicting classifications of pathogenicity
rs2009663178:143,955,907G/A—likely benign
rs13412678628:143,955,914G/T—likely benign
rs52958:143,955,916C/T—uncertain significance
rs7524346138:143,955,917G/A—likely benign
rs11601952148:143,955,918G/C—likely benign
rs1431193728:143,955,925A/C—likely benign
rs43101868:143,956,247G/C—benign
rs7743525428:143,956,355C/G—likely benign
rs7464583928:143,956,356A/T—likely benign
rs7690280958:143,956,361G/C—likely benign
rs21302659548:143,956,364C/T—likely benign
rs617527968:143,956,365C/T—likely benign
rs12914361888:143,956,366T/A—likely benign
rs7762849248:143,956,367G/C—conflicting classifications of pathogenicity
rs15638678378:143,956,368C/G—pathogenic
rs15865570658:143,956,369T/C—likely pathogenic
rs5770224908:143,956,371A/G—likely pathogenic
rs21302660178:143,956,376G/A—likely benign

Showing 100 of 636 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.