LIG3

DNA ligase 3

Summary

This gene is a member of the DNA ligase family. Each member of this family encodes a protein that catalyzes the joining of DNA ends but they each have a distinct role in DNA metabolism. The protein encoded by this gene is involved in excision repair and is located in both the mitochondria and nucleus, with translation initiation from the upstream start codon allowing for transport to the mitochondria and translation initiation from a downstream start codon allowing for transport to the nucleus. Additionally, alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

Known Variants102 total

rsidPosition (GRCh37)AllelesClassClinVar
rs14558351917:33,308,246G/Aregulatory region variant—
rs14430776917:33,310,091C/T—benign
rs76398132417:33,310,094T/G—uncertain significance
rs18788152517:33,310,098G/A—conflicting classifications of pathogenicity
rs75008903417:33,310,110G/A—pathogenic
rs37345997117:33,310,147A/G—likely benign
rs37389735817:33,310,299G/A—uncertain significance
rs250890564417:33,310,307G/A—uncertain significance
rs77811157717:33,310,326G/A—uncertain significance
rs74785370817:33,310,377G/A—uncertain significance
rs102176461217:33,310,406T/G—uncertain significance
rs77205062517:33,310,470G/A—uncertain significance
rs53707665517:33,310,476G/A—likely benign
rs6174986917:33,310,495C/A—likely benign
rs90099308017:33,313,006G/C—uncertain significance
rs77988124417:33,313,102G/A—likely benign
rs374435617:33,313,129C/Tmissense variantlikely benign
rs20224309917:33,313,130G/T—uncertain significance
rs313597417:33,315,445G/Aintron variant—
rs20024024817:33,316,491C/G—uncertain significance
rs20181478117:33,316,515C/T—likely benign
rs76050083517:33,316,537T/A—uncertain significance
rs14125579417:33,316,583C/T—uncertain significance
rs14917558117:33,316,584G/A—uncertain significance
rs56671338617:33,316,592C/T—likely pathogenic
rs250893373517:33,316,635C/G—uncertain significance
rs75351573317:33,316,657C/A—uncertain significance
rs119420685417:33,316,674C/T—uncertain significance
rs14807335117:33,318,059G/A—uncertain significance
rs37088286417:33,318,120G/A—likely benign
rs11667751717:33,318,144C/T—benign
rs142941503317:33,318,721T/C—uncertain significance
rs77190350317:33,318,745C/G—uncertain significance
rs19255855317:33,318,796G/A—uncertain significance
rs250894504017:33,318,814A/G—uncertain significance
rs78136775117:33,318,841A/G—uncertain significance
rs37526086017:33,318,859G/T—benign
rs75817156917:33,319,024A/G—uncertain significance
rs91832929217:33,319,060T/C—uncertain significance
rs11195815617:33,319,588G/A—benign
rs54711948217:33,319,628G/A—uncertain significance
rs313598817:33,319,639G/A—benign
rs19392269017:33,319,696T/C—likely benign
rs53259695517:33,321,348G/A—uncertain significance
rs214226330717:33,321,354T/G—likely benign
rs76362449617:33,321,394A/G—uncertain significance
rs74929302617:33,321,443C/T—uncertain significance
rs214226365917:33,321,450G/C—pathogenic
rs209075994617:33,321,659G/A—pathogenic
rs155555626417:33,323,161A/C—uncertain significance
rs250896690017:33,323,212A/C—uncertain significance
rs207451817:33,324,382C/Tregulatory region variant—
rs207451717:33,324,678T/A——
rs250897526317:33,324,744C/T—uncertain significance
rs119280819117:33,324,759C/T—pathogenic
rs20170506617:33,324,768A/T—conflicting classifications of pathogenicity
rs90369757517:33,324,774G/A—uncertain significance
rs76557896817:33,324,789A/C—uncertain significance
rs214227293117:33,324,790C/T—likely benign
rs18853275117:33,324,792A/G—uncertain significance
rs101343651317:33,324,806C/G—uncertain significance
rs313600917:33,325,235C/T—likely benign
rs76075433417:33,325,268C/T—uncertain significance
rs14686988117:33,325,286T/C—benign
rs74540488717:33,325,310G/A—uncertain significance
rs76580651617:33,325,729A/G—uncertain significance
rs18227832117:33,326,345C/T—benign
rs209081548617:33,326,385A/G—uncertain significance
rs156769321617:33,326,412G/C—uncertain significance
rs36820745217:33,326,423G/A—likely benign
rs76486855817:33,326,454G/T—uncertain significance
rs53159953917:33,326,809C/A—uncertain significance
rs77501974217:33,326,860C/T—benign
rs313601517:33,326,894G/A—benign
rs76973326217:33,328,257G/C—uncertain significance
rs11452279617:33,328,311C/T—benign
rs77394969217:33,328,337A/C—uncertain significance
rs77279141117:33,328,370G/A—uncertain significance
rs77126765117:33,328,375C/T—pathogenic
rs313602217:33,328,416A/G—benign
rs250900069817:33,329,042G/A—uncertain significance
rs3550131517:33,329,109C/T—benign
rs207452217:33,329,648G/Adownstream gene variant—
rs13947493817:33,329,713G/A—likely benign
rs37220727617:33,329,724G/C—benign
rs77402630717:33,329,739C/G—likely benign
rs54989920117:33,329,786A/C—uncertain significance
rs3595607417:33,329,792C/T—conflicting classifications of pathogenicity
rs7546703117:33,329,814G/A—likely benign
rs77846808617:33,329,828C/T—uncertain significance
rs479603017:33,330,150A/Cregulatory region variant—
rs13974872917:33,331,304A/G—likely benign
rs105484874817:33,331,310A/C—uncertain significance
rs20097499917:33,331,320G/A—likely benign
rs76669785217:33,331,355C/A—uncertain significance
rs19970220517:33,331,385G/C—pathogenic
rs37591158717:33,331,426C/T—likely benign
rs7612240517:33,331,456G/A—benign
rs214229428817:33,331,491G/A—pathogenic
rs14046256717:33,331,503G/A—conflicting classifications of pathogenicity

Showing 100 of 102 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.