RTEL1

regulator of telomere elongation helicase 1

Summary

This gene encodes a DNA helicase which functions in the stability, protection and elongation of telomeres and interacts with proteins in the shelterin complex known to protect telomeres during DNA replication. Mutations in this gene have been associated with dyskeratosis congenita and Hoyerall-Hreidarsson syndrome. Read-through transcription of this gene into the neighboring downstream gene, which encodes tumor necrosis factor receptor superfamily, member 6b, generates a non-coding transcript. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013]

Known Variants2,482 total

rsidPosition (GRCh37)AllelesClassClinVar
rs376112420:62,288,752T/A——
rs229743220:62,290,663T/C—benign
rs1304379720:62,290,697C/A—benign
rs214614127720:62,290,747C/G—uncertain significance
rs75751693020:62,290,760C/A—uncertain significance
rs251698599820:62,290,761C/T—likely benign
rs77928281220:62,290,763A/C—uncertain significance
rs74627164220:62,290,764G/A—likely benign
rs77974854320:62,290,767A/C—likely benign
rs208997301920:62,290,771C/T—likely benign
rs133136970820:62,290,776T/C—likely benign
rs75116815720:62,290,784C/T—uncertain significance
rs74643764520:62,290,785C/T—likely benign
rs76822382820:62,290,786G/A—conflicting classifications of pathogenicity
rs121449106920:62,290,791C/T—likely benign
rs214614143220:62,290,797T/C—uncertain significance
rs129696888520:62,290,800C/A—uncertain significance
rs214614145520:62,290,801C/T—pathogenic
rs74814557620:62,290,802A/G—uncertain significance
rs155589909620:62,290,804C/T—likely pathogenic
rs76988808820:62,290,806C/T—likely benign
rs97468466220:62,290,809C/T—likely benign
rs208997379920:62,290,810A/G—uncertain significance
rs214614151620:62,290,811A/G—uncertain significance
rs251698612120:62,290,812A/G—likely benign
rs251698613120:62,290,816C/T—pathogenic
rs91622482120:62,290,824G/A—likely benign
rs142416173920:62,290,827C/G—pathogenic
rs251698616820:62,290,830G/A—uncertain significance
rs124042820520:62,290,835A/G—uncertain significance
rs147515105620:62,290,836G/A—likely benign
rs251698619220:62,290,840C/T—likely benign
rs251698619820:62,290,842G/A—likely benign
rs37584912420:62,290,849C/T—conflicting classifications of pathogenicity
rs155589911120:62,290,859T/C—pathogenic
rs156907766120:62,290,864C/T—likely benign
rs76061646220:62,290,866C/G—likely benign
rs20156934320:62,290,867A/G—likely benign
rs75773106520:62,290,870C/T—likely benign
rs129930157620:62,290,871C/G—likely benign
rs146734282320:62,290,872C/G—likely benign
rs76578231520:62,290,873C/G—likely benign
rs130523138520:62,290,874G/C—likely benign
rs251698633020:62,290,877G/A—likely benign
rs11542276620:62,290,948G/A—likely benign
rs608995320:62,291,008A/Gregulatory region variantbenign
rs606229520:62,291,174A/T——
rs3497882220:62,291,599C/Gintron variant—
rs7392092020:62,292,409T/C—benign
rs7552672520:62,292,447G/A—benign
rs251699210220:62,292,635T/C—likely benign
rs129213426420:62,292,636C/G—likely benign
rs124088939720:62,292,637C/T—likely benign
rs18386273620:62,292,638G/A—conflicting classifications of pathogenicity
rs214614841820:62,292,642T/C—likely benign
rs135745657920:62,292,643C/T—likely benign
rs74607878420:62,292,644C/T—likely benign
rs5769535220:62,292,645G/A—benign
rs89477141420:62,292,653G/A—likely benign
rs251699218920:62,292,654G/A—uncertain significance
rs120073872120:62,292,662C/A—likely benign
rs76679445520:62,292,666C/G—uncertain significance
rs155589946520:62,292,668G/A—likely benign
rs209001596920:62,292,674C/T—likely benign
rs251699225120:62,292,675C/T—uncertain significance
rs54484142520:62,292,677T/A—likely benign
rs37745446920:62,292,680G/A—likely benign
rs77779695720:62,292,686A/G—likely benign
rs116345587520:62,292,694C/T—uncertain significance
rs11412424320:62,292,695G/A—likely benign
rs117882297020:62,292,698G/C—likely benign
rs251699234420:62,292,701C/T—likely benign
rs214614863120:62,292,702C/T—likely benign
rs74570008920:62,292,710C/T—likely benign
rs74903308620:62,292,711A/T—uncertain significance
rs76891048520:62,292,715C/T—uncertain significance
rs77672240020:62,292,716G/A—likely benign
rs76988518820:62,292,719G/T—likely benign
rs77366916220:62,292,721C/G—uncertain significance
rs145718412720:62,292,726C/T—pathogenic
rs76341562020:62,292,727G/A—uncertain significance
rs209001711120:62,292,735C/G—uncertain significance
rs214614877020:62,292,737C/G—likely benign
rs36831159420:62,292,738C/T—pathogenic
rs14654460920:62,292,739G/A—uncertain significance
rs76713379220:62,292,742A/T—uncertain significance
rs75241343920:62,292,743C/T—likely benign
rs75564158720:62,292,744G/A—uncertain significance
rs77745965320:62,292,745G/T—uncertain significance
rs76852468420:62,292,753G/A—uncertain significance
rs95785800620:62,292,755C/T—likely benign
rs77877576620:62,292,756C/T—uncertain significance
rs6173661620:62,292,757G/A—uncertain significance
rs91039257120:62,292,761G/A—likely benign
rs131351711020:62,292,763T/C—uncertain significance
rs77431144420:62,292,765G/T—uncertain significance
rs78134094320:62,292,767C/T—likely benign
rs14004222720:62,292,768G/A—uncertain significance
rs214614890920:62,292,770G/A—likely benign
rs251699262320:62,292,773G/C—uncertain significance

Showing 100 of 2,482 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.