CYP4F22

cytochrome P450 family 4 subfamily F member 22

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 gene is part of a cluster of cytochrome P450 genes on chromosome 19 and encodes an enzyme thought to play a role in the 12(R)-lipoxygenase pathway. Mutations in this gene are the cause of ichthyosis lamellar type 3. [provided by RefSeq, Jul 2008]

Known Variants199 total

rsidPosition (GRCh37)AllelesClassClinVar
rs88605426319:15,619,380G/A—uncertain significance
rs56010694319:15,621,517C/A——
rs56452666419:15,624,702C/T——
rs55561082519:15,626,461C/T——
rs7392992419:15,636,118A/G—benign
rs20046469219:15,636,146G/A—uncertain significance
rs20206626919:15,636,167G/A—conflicting classifications of pathogenicity
rs77329575419:15,636,197C/G—uncertain significance
rs14780804519:15,636,198G/A—likely benign
rs14446544319:15,636,213C/T—likely benign
rs14840270619:15,636,215C/T—conflicting classifications of pathogenicity
rs146299868319:15,636,223A/G—likely benign
rs75077521619:15,636,236T/C—uncertain significance
rs75461952219:15,636,243C/A—likely benign
rs74697999619:15,636,257G/T—uncertain significance
rs77563629219:15,636,279G/A—likely benign
rs14602601919:15,636,307C/T—conflicting classifications of pathogenicity
rs13992788419:15,636,308G/A—uncertain significance
rs75073375719:15,636,310C/T—uncertain significance
rs11809131619:15,636,324T/C—pathogenic
rs75230163219:15,636,339G/T—likely benign
rs14096800219:15,636,341G/A—uncertain significance
rs37410691819:15,636,384G/A—conflicting classifications of pathogenicity
rs810739519:15,636,682A/T—benign
rs6211708319:15,637,618C/T——
rs1108595819:15,640,288T/G—benign
rs105751808719:15,640,510C/G—pathogenic
rs144998083419:15,640,533A/G—likely pathogenic
rs36981107319:15,640,539G/A—pathogenic
rs131729112319:15,640,548A/T—uncertain significance
rs14383581619:15,640,582A/C—likely benign
rs214451836319:15,640,593G/A—pathogenic
rs74997273819:15,640,611C/T—uncertain significance
rs20114812419:15,640,647C/T—uncertain significance
rs156835774919:15,640,665G/A—pathogenic
rs7351265219:15,640,669G/A—benign
rs127352219:15,640,972A/G—benign
rs811337819:15,647,883A/G—benign
rs14574562619:15,647,996T/C—benign
rs431098719:15,648,148T/C—benign
rs77872841819:15,648,159T/C—likely benign
rs7601555119:15,648,163C/G—benign
rs14781839019:15,648,183C/T—conflicting classifications of pathogenicity
rs15073942919:15,648,191T/C—conflicting classifications of pathogenicity
rs77388641519:15,648,226G/A—pathogenic
rs20010897819:15,648,233C/A—benign
rs11498083319:15,648,371T/C—benign
rs75527348219:15,648,384C/T—uncertain significance
rs77928817819:15,648,385G/A—uncertain significance
rs14138298419:15,648,387C/T—conflicting classifications of pathogenicity
rs77050055019:15,648,390C/T—pathogenic
rs77627577719:15,648,391G/A—pathogenic
rs19964125019:15,648,394G/A—conflicting classifications of pathogenicity
rs37446481719:15,648,407C/T—likely benign
rs56916615419:15,648,408G/A—likely benign
rs18700445719:15,648,409C/G—uncertain significance
rs1698053119:15,648,456A/T—benign
rs197141359219:15,648,476G/A—uncertain significance
rs156836038719:15,648,478G/C—pathogenic
rs156836047519:15,648,681A/T—pathogenic
rs14236453319:15,648,692C/T—likely benign
rs15126946419:15,648,714C/T—likely benign
rs1166660119:15,648,715A/G—benign
rs7960381419:15,648,720C/G—benign
rs156836052619:15,648,725G/T—pathogenic
rs76055035419:15,648,728A/G—uncertain significance
rs138763233819:15,648,774G/C—uncertain significance
rs37109784219:15,648,792G/C—conflicting classifications of pathogenicity
rs19989219219:15,648,800C/T—pathogenic
rs2863184319:15,648,867T/G—benign
rs7392992919:15,651,092G/A—benign
rs19983490619:15,651,252C/T—conflicting classifications of pathogenicity
rs14961633819:15,651,282C/T—likely benign
rs156836125019:15,651,286A/C—pathogenic
rs14690424019:15,651,300C/G—uncertain significance
rs57227877119:15,651,301G/A—likely benign
rs37667568319:15,651,313C/T—uncertain significance
rs76809885419:15,651,316C/T—pathogenic
rs11820393719:15,651,317G/Amissense variantpathogenic
rs76111399819:15,651,320A/G—uncertain significance
rs14583052019:15,651,323A/G—likely benign
rs14897708919:15,651,325C/T—uncertain significance
rs18402121119:15,651,326G/A—conflicting classifications of pathogenicity
rs197144600019:15,651,337T/C—uncertain significance
rs14350669719:15,651,342C/T—conflicting classifications of pathogenicity
rs75707862919:15,651,343G/A—uncertain significance
rs20000556719:15,651,359G/A—uncertain significance
rs18870264319:15,651,365C/G—conflicting classifications of pathogenicity
rs11360964119:15,651,366G/A—benign
rs77382632019:15,651,373C/T—uncertain significance
rs14163174519:15,651,374G/A—likely benign
rs76735285419:15,651,433C/T—pathogenic
rs136880684919:15,651,434G/A—conflicting classifications of pathogenicity
rs75588583819:15,651,436C/T—pathogenic
rs14190260319:15,651,437G/A—uncertain significance
rs19978202519:15,651,439C/T—uncertain significance
rs75512954119:15,651,440G/A—uncertain significance
rs54955944119:15,651,451C/A—uncertain significance
rs5814270919:15,651,456G/A—likely benign
rs132266857319:15,651,457G/T—uncertain significance

Showing 100 of 199 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.