ALOX12B

arachidonate 12-lipoxygenase, 12R type

Summary

This gene encodes an enzyme involved in the conversion of arachidonic acid to 12R-hydroxyeicosatetraenoic acid. Mutations in this gene are associated with nonbullous congenital ichthyosiform erythroderma. [provided by RefSeq, Sep 2015]

Known Variants260 total

rsidPosition (GRCh37)AllelesClassClinVar
rs57712481117:7,975,988T/C—uncertain significance
rs7425260317:7,976,023G/A—benign
rs197700734317:7,976,101G/T—uncertain significance
rs36775014217:7,976,107C/G—uncertain significance
rs74837747517:7,976,113C/A—uncertain significance
rs250768710217:7,976,129T/C—uncertain significance
rs197700785917:7,976,131G/C—pathogenic
rs148284405317:7,976,135T/C—pathogenic
rs197700862017:7,976,154T/A—pathogenic
rs39751452817:7,976,159C/Tmissense variantpathogenic
rs197700887917:7,976,160G/T—pathogenic
rs250768718717:7,976,183T/C—uncertain significance
rs197700971717:7,976,195T/G—pathogenic
rs135760467917:7,976,229C/T—uncertain significance
rs197701088017:7,976,232C/T—pathogenic
rs159817683417:7,976,237A/C—uncertain significance
rs98470867817:7,976,254G/C—uncertain significance
rs139834032017:7,976,259C/T—pathogenic
rs56896810717:7,976,285C/G—likely benign
rs76290239117:7,976,457G/A—uncertain significance
rs88605356117:7,976,462G/A—uncertain significance
rs197701603517:7,976,464A/C—pathogenic
rs215182098317:7,976,465C/T—pathogenic
rs105752323817:7,976,485C/A—uncertain significance
rs197701683617:7,976,521G/A—pathogenic
rs197701697317:7,976,531C/A—pathogenic
rs78042090117:7,976,533G/Amissense variantuncertain significance
rs54207477717:7,976,538C/A—conflicting classifications of pathogenicity
rs76151999717:7,976,550G/A—uncertain significance
rs77305212917:7,976,563G/A—pathogenic
rs197701812517:7,976,571C/G—pathogenic
rs133328739017:7,976,593C/T—conflicting classifications of pathogenicity
rs197701864317:7,976,595C/A—pathogenic
rs133691097317:7,976,599G/A—conflicting classifications of pathogenicity
rs75250909817:7,976,602G/Tmissense variantpathogenic
rs136078158217:7,976,605G/A—pathogenic
rs88605356217:7,976,645G/A—conflicting classifications of pathogenicity
rs7883585017:7,976,917A/T—benign
rs197702755117:7,976,988A/C—pathogenic
rs13785302417:7,976,996G/Tmissense variantpathogenic
rs197702773317:7,976,998G/A—pathogenic
rs156798059617:7,977,033T/C—likely pathogenic
rs156798059717:7,977,036C/G—pathogenic
rs197702885417:7,977,054G/A—pathogenic
rs20068720617:7,977,075C/T—uncertain significance
rs20154328917:7,977,082G/T—pathogenic
rs75177351017:7,977,084C/T—conflicting classifications of pathogenicity
rs75671835417:7,977,088G/A—likely benign
rs1293741017:7,977,105A/G—benign
rs14984273817:7,977,155C/T—benign
rs721910217:7,977,368T/C—benign
rs7520499317:7,978,120C/Tupstream gene variant—
rs650307517:7,978,751A/G—benign
rs5786991817:7,978,819T/A—benign
rs37153781917:7,978,910T/C—pathogenic
rs197706157817:7,978,912C/T—pathogenic
rs39751453217:7,978,925G/Amissense variantpathogenic
rs197706240317:7,978,933A/C—uncertain significance
rs136475487817:7,978,937A/G—pathogenic
rs13968969017:7,978,952C/T—uncertain significance
rs197706284917:7,978,954T/G—pathogenic
rs96226715317:7,978,958C/T—conflicting classifications of pathogenicity
rs76809351217:7,978,973C/T—uncertain significance
rs76956238317:7,978,975G/A—uncertain significance
rs14504677517:7,978,981C/T—conflicting classifications of pathogenicity
rs19954565317:7,978,988C/Tmissense variantpathogenic
rs197706408717:7,978,990G/T—uncertain significance
rs36769319617:7,978,994C/T—uncertain significance
rs76223082817:7,978,995G/A—likely benign
rs88605356317:7,978,997C/T—uncertain significance
rs93646642717:7,979,001C/A—conflicting classifications of pathogenicity
rs15037167817:7,979,002G/A—likely benign
rs19976656917:7,979,005T/Cmissense variantpathogenic
rs76662107117:7,979,026G/A—uncertain significance
rs197706608217:7,979,035C/A—pathogenic
rs19976098117:7,979,045G/C—benign
rs228958617:7,979,463G/A—benign
rs37066481717:7,979,478C/A—conflicting classifications of pathogenicity
rs250769169917:7,979,508C/T—pathogenic
rs37632492417:7,979,513C/T—likely benign
rs106479631217:7,979,527C/G—uncertain significance
rs37101674417:7,979,528G/A—conflicting classifications of pathogenicity
rs76878409117:7,979,529C/T—conflicting classifications of pathogenicity
rs36832372917:7,979,530G/A—conflicting classifications of pathogenicity
rs76346855817:7,979,562C/T—pathogenic
rs122163242917:7,979,563G/A—conflicting classifications of pathogenicity
rs54119663317:7,979,564C/T—likely benign
rs133565565217:7,979,565T/C—uncertain significance
rs37429622717:7,979,577T/C—uncertain significance
rs76008904817:7,979,585G/A—likely benign
rs77880324317:7,979,594G/A—likely benign
rs197707908317:7,979,598T/C—pathogenic
rs88605356417:7,979,612C/T—uncertain significance
rs215182180817:7,979,613A/G—uncertain significance
rs197707958617:7,979,617C/A—uncertain significance
rs14030684617:7,979,619C/T—conflicting classifications of pathogenicity
rs55940106617:7,979,620G/A—conflicting classifications of pathogenicity
rs14534442117:7,979,631C/A—conflicting classifications of pathogenicity
rs77495879017:7,979,640C/T—pathogenic
rs76040750317:7,979,650C/T—uncertain significance

Showing 100 of 260 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.