CYP19A1

cytochrome P450 family 19 subfamily A member 1

Pharmacogene

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 endoplasmic reticulum and catalyzes the last steps of estrogen biosynthesis. Mutations in this gene can result in either increased or decreased aromatase activity; the associated phenotypes suggest that estrogen functions both as a sex steroid hormone and in growth or differentiation. Alternative promoter use and alternative splicing results in multiple transcript variants that have different tissue specificities. [provided by RefSeq, Dec 2016]

Known Variants446 total

rsidPosition (GRCh37)AllelesClassClinVar
rs5665871615:51,212,492A/Gmissense variant—
rs228910415:51,500,282T/C—benign
rs2875721315:51,500,373A/G—likely benign
rs56219318415:51,500,381G/A—benign
rs87890569215:51,500,398T/C—uncertain significance
rs75147421815:51,500,416G/T—uncertain significance
rs14041766015:51,500,469G/A—uncertain significance
rs123494925915:51,500,486A/G—uncertain significance
rs93463315:51,500,494C/T—benign
rs75248417315:51,500,508A/G—uncertain significance
rs93463415:51,500,538C/T—benign
rs88605127015:51,500,731T/C—uncertain significance
rs54090034615:51,500,748T/C—uncertain significance
rs88605127115:51,500,813A/G—uncertain significance
rs225519215:51,500,835T/C—benign
rs86582113815:51,500,850A/G—uncertain significance
rs97745614615:51,500,879C/T—uncertain significance
rs98988066115:51,500,919C/T—uncertain significance
rs104226950415:51,500,938A/C—uncertain significance
rs3563680415:51,500,966A/C—benign
rs88605127215:51,500,973C/T—uncertain significance
rs76242739015:51,501,116T/A—uncertain significance
rs427579415:51,501,117T/A—uncertain significance
rs203066097015:51,501,127A/G—uncertain significance
rs88605127315:51,501,128A/C—uncertain significance
rs203066477315:51,501,172G/T—uncertain significance
rs78178235115:51,501,397G/A—uncertain significance
rs1214860415:51,501,404T/C—benign
rs203069113515:51,501,460C/A—uncertain significance
rs94352098215:51,501,564C/T—uncertain significance
rs104796068015:51,501,624G/A—uncertain significance
rs203071562215:51,501,641G/A—uncertain significance
rs2875721215:51,501,709G/A—benign
rs2875721015:51,501,815G/A—benign
rs52727548615:51,501,936G/A—uncertain significance
rs88605127415:51,501,986G/A—uncertain significance
rs55526184015:51,502,147G/A—uncertain significance
rs86611173515:51,502,258C/T—uncertain significance
rs203079068815:51,502,359G/C—uncertain significance
rs88605127515:51,502,367C/A—uncertain significance
rs2875720915:51,502,462G/C—likely benign
rs88605127615:51,502,522C/G—uncertain significance
rs2875720815:51,502,545C/G—likely benign
rs7782841515:51,502,725T/A—benign
rs137993347615:51,502,765G/T—uncertain significance
rs19040364815:51,502,814G/T—uncertain significance
rs18172181015:51,502,839A/T—uncertain significance
rs464615:51,502,844A/C3 prime UTR variantbenign
rs78174262015:51,502,880A/G—uncertain significance
rs2875720715:51,502,897T/C—benign
rs2875720615:51,502,927C/A—uncertain significance
rs52774926315:51,502,952G/A—likely benign
rs1004615:51,502,986G/A3 prime UTR variantdrug response
rs37375751915:51,502,996C/A—uncertain significance
rs97604391715:51,503,005C/T—likely benign
rs92315205315:51,503,020C/A—uncertain significance
rs123911090615:51,503,025C/T—uncertain significance
rs37407988215:51,503,029G/A—conflicting classifications of pathogenicity
rs214102983715:51,503,032T/C—likely benign
rs254238736215:51,503,038G/A—likely benign
rs254238749215:51,503,055G/A—likely benign
rs138026184015:51,503,059G/A—likely benign
rs102385496515:51,503,077G/A—likely benign
rs57153273015:51,503,084G/A—uncertain significance
rs146401621515:51,503,086C/T—likely benign
rs98275244415:51,503,092G/A—likely benign
rs254238776315:51,503,098C/T—likely benign
rs203089519815:51,503,101C/T—likely benign
rs137458698515:51,503,104T/A—likely benign
rs254238784315:51,503,107G/A—likely benign
rs77748491215:51,503,113A/G—likely benign
rs37732726515:51,503,130A/G—likely benign
rs143789805615:51,503,131T/C—likely benign
rs254238806015:51,503,134C/T—likely benign
rs254238807315:51,503,137C/T—likely benign
rs37250047415:51,503,139C/T—uncertain significance
rs78141771415:51,503,140G/A—likely benign
rs74843927815:51,503,143G/A—likely benign
rs77012006515:51,503,147C/T—likely benign
rs214103027715:51,503,152C/T—likely benign
rs254238815715:51,503,154G/A—likely benign
rs203090749215:51,503,158T/A—likely benign
rs77494017015:51,503,164G/A—likely benign
rs203091034915:51,503,167G/A—likely benign
rs254238830915:51,503,170G/A—likely benign
rs76376820415:51,503,191G/A—likely benign
rs120558368415:51,503,194G/A—likely benign
rs203091511815:51,503,197C/T—likely benign
rs254238850115:51,503,200T/G—likely benign
rs7831031515:51,503,207C/Tmissense variantpathogenic
rs12143453415:51,503,214G/Amissense variantpathogenic
rs203091903615:51,503,224G/A—likely benign
rs203091991615:51,503,228A/G—uncertain significance
rs37450141615:51,503,230T/C—likely benign
rs103743148215:51,503,233C/T—likely benign
rs254238877215:51,503,236A/G—likely benign
rs76972536415:51,503,239G/A—likely benign
rs77133546015:51,503,245A/G—likely benign
rs214103054915:51,503,251A/G—likely benign
rs97612297215:51,503,257T/A—likely benign

Showing 100 of 446 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.