CYP4V2

cytochrome P450 family 4 subfamily V member 2

Summary

This gene encodes a member of the cytochrome P450 hemethiolate protein superfamily which are involved in oxidizing various substrates in the metabolic pathway. It is implicated in the metabolism of fatty acid precursors into n-3 polyunsaturated fatty acids. Mutations in this gene result in Bietti crystalline corneoretinal dystrophy. [provided by RefSeq, Jul 2008]

Known Variants462 total

rsidPosition (GRCh37)AllelesClassClinVar
rs5564866014:187,111,299G/A——
rs131027194:187,112,457T/C—benign
rs76630274:187,112,629G/C—benign
rs5498051754:187,112,676G/A—uncertain significance
rs76627174:187,112,682C/A—benign
rs8860592784:187,112,779C/T—uncertain significance
rs8860592794:187,112,800C/T—uncertain significance
rs22418194:187,112,826G/A—benign
rs13980074:187,112,832T/C—benign
rs5628856694:187,112,845G/T—uncertain significance
rs5319094644:187,112,850A/G—likely benign
rs8860592804:187,112,922C/G—uncertain significance
rs8940679594:187,112,956C/G—uncertain significance
rs17359914514:187,112,986G/T—likely benign
rs17359916034:187,112,989C/G—likely benign
rs5565919034:187,112,991G/C—uncertain significance
rs2021486934:187,113,001C/T—conflicting classifications of pathogenicity
rs16834630294:187,113,002G/C—uncertain significance
rs7655375554:187,113,014C/T—likely benign
rs7631594144:187,113,017C/G—uncertain significance
rs2000101094:187,113,021T/C—conflicting classifications of pathogenicity
rs24788887634:187,113,024G/A—likely pathogenic
rs7552830614:187,113,038G/A—likely benign
rs10551384:187,113,041C/Gmissense variantbenign
rs13128902844:187,113,045C/A—uncertain significance
rs8894690714:187,113,050G/A—uncertain significance
rs12453580164:187,113,056G/A—uncertain significance
rs7557025684:187,113,059A/G—uncertain significance
rs24788890734:187,113,060G/C—uncertain significance
rs10065826144:187,113,068C/T—likely benign
rs1456119664:187,113,076G/A—conflicting classifications of pathogenicity
rs17359969244:187,113,078T/C—uncertain significance
rs24788892434:187,113,083A/G—uncertain significance
rs14811605494:187,113,097C/G—pathogenic
rs9633043434:187,113,100G/A—uncertain significance
rs9014609924:187,113,101C/G—uncertain significance
rs1191032824:187,113,107T/Amissense variantpathogenic
rs17359984794:187,113,120G/C—uncertain significance
rs7699014834:187,113,124C/G—likely benign
rs9333497434:187,113,129C/T—uncertain significance
rs7600018314:187,113,140C/A—uncertain significance
rs7680591184:187,113,144C/T—uncertain significance
rs3694845764:187,113,145C/G—likely benign
rs3741741104:187,113,146T/C—uncertain significance
rs7635900934:187,113,151A/G—likely benign
rs12213221134:187,113,152C/T—likely benign
rs1191032854:187,113,158G/Amissense variantpathogenic
rs2003272674:187,113,160C/G—likely benign
rs7567796724:187,113,163C/G—uncertain significance
rs11947915214:187,113,166G/A—likely benign
rs7785989034:187,113,171T/C—uncertain significance
rs7454137944:187,113,174T/G—pathogenic
rs7583904234:187,113,182G/A—uncertain significance
rs21265788074:187,113,183A/T—uncertain significance
rs5534848864:187,113,184C/A—uncertain significance
rs7801041604:187,113,185G/C—uncertain significance
rs3774250304:187,113,191G/A—uncertain significance
rs14619460784:187,113,198G/A—likely benign
rs7685067894:187,113,200C/T—likely benign
rs9067569064:187,113,201G/C—likely benign
rs24788901684:187,113,203C/T—likely benign
rs3698914034:187,113,208C/T—likely benign
rs802503694:187,113,308C/A—benign
rs726462424:187,115,411A/G—benign
rs726462434:187,115,416C/G—benign
rs670561184:187,115,421A/G—benign
rs100136534:187,115,632C/A—benign
rs7623167244:187,115,634A/T—likely benign
rs3721447434:187,115,648C/T—likely benign
rs21265819904:187,115,654A/T—uncertain significance
rs7510699994:187,115,656T/C—likely pathogenic
rs24788982334:187,115,657T/G—uncertain significance
rs7549194904:187,115,658T/A—pathogenic
rs17360847604:187,115,668A/T—uncertain significance
rs15614307974:187,115,670C/A—likely benign
rs14751651424:187,115,673T/G—uncertain significance
rs1994761854:187,115,676G/Tmissense variantpathogenic
rs1381739684:187,115,679C/T—likely benign
rs21265820574:187,115,681C/G—uncertain significance
rs1994761864:187,115,692C/Tmissense variantpathogenic
rs5591330744:187,115,693G/A—conflicting classifications of pathogenicity
rs24788984824:187,115,697C/T—likely benign
rs3770422454:187,115,702C/T—uncertain significance
rs2016103044:187,115,703G/T—likely benign
rs1929206734:187,115,709G/A—likely benign
rs7703017144:187,115,711A/G—uncertain significance
rs12796619494:187,115,713C/T—uncertain significance
rs1427753744:187,115,721C/T—conflicting classifications of pathogenicity
rs1994761874:187,115,722G/Amissense variantpathogenic
rs14026213764:187,115,731C/T—uncertain significance
rs7510655014:187,115,735T/C—uncertain significance
rs1432722484:187,115,741C/T—uncertain significance
rs17360902924:187,115,745T/C—likely benign
rs7526459544:187,115,749A/G—uncertain significance
rs8860592814:187,115,750A/G—uncertain significance
rs7802019464:187,115,762T/G—uncertain significance
rs1994761824:187,115,767G/A—pathogenic
rs17360923784:187,115,773A/G—likely benign
rs623505174:187,115,777G/C—likely benign
rs9112097504:187,115,786A/T—likely benign

Showing 100 of 462 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.