GLI3

GLI family zinc finger 3

Summary

This gene encodes a protein which belongs to the C2H2-type zinc finger proteins subclass of the Gli family. They are characterized as DNA-binding transcription factors and are mediators of Sonic hedgehog (Shh) signaling. The protein encoded by this gene localizes in the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression. It is also thought to play a role during embryogenesis. Mutations in this gene have been associated with several diseases, including Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, and postaxial polydactyly types A1 and B. [provided by RefSeq, Jul 2008]

Known Variants923 total

rsidPosition (GRCh37)AllelesClassClinVar
rs664956517:42,000,501T/C—benign
rs1155194767:42,000,536C/A—benign
rs8860623107:42,000,559G/T—uncertain significance
rs5531513697:42,000,619G/T—conflicting classifications of pathogenicity
rs730969027:42,000,666T/C—likely benign
rs3726280477:42,000,690G/A—benign
rs8860623117:42,000,834A/G—uncertain significance
rs37353617:42,000,924C/T3 prime UTR variantbenign
rs14840405787:42,000,926T/C—uncertain significance
rs17870101957:42,001,067A/C—uncertain significance
rs5532654497:42,001,069C/T—benign
rs38237207:42,001,171G/A3 prime UTR variantbenign
rs10501411627:42,001,184A/C—uncertain significance
rs1931921677:42,001,213C/T—likely benign
rs8860623127:42,001,252G/A—uncertain significance
rs1179873697:42,001,262C/T—conflicting classifications of pathogenicity
rs561580697:42,001,308G/C—conflicting classifications of pathogenicity
rs15837246897:42,001,316T/C—uncertain significance
rs5686900747:42,001,411C/T—conflicting classifications of pathogenicity
rs8860623137:42,001,420C/G—uncertain significance
rs8860623147:42,001,463C/G—uncertain significance
rs8860623157:42,001,509A/G—uncertain significance
rs5627052247:42,001,571A/T—likely benign
rs1382098437:42,001,581G/T—likely benign
rs5683931067:42,001,652A/G—conflicting classifications of pathogenicity
rs8860623167:42,001,671T/A—uncertain significance
rs8860623177:42,001,712A/G—uncertain significance
rs14860128717:42,001,752C/G—uncertain significance
rs1850990217:42,001,811T/C—benign
rs8659429667:42,001,839C/T—uncertain significance
rs5399315927:42,001,857G/A—likely benign
rs5738604847:42,001,878A/C—benign
rs733180857:42,001,909G/A—benign
rs8860623187:42,002,070G/A—uncertain significance
rs8860623197:42,002,148G/A—uncertain significance
rs1812617687:42,002,237G/A—benign
rs8860623207:42,002,240G/C—uncertain significance
rs1838533267:42,002,305T/C—benign
rs17870432417:42,002,375A/C—uncertain significance
rs8860623217:42,002,457G/A—uncertain significance
rs11564193677:42,002,458T/G—uncertain significance
rs5664175967:42,002,464T/C—benign
rs1483181767:42,002,517C/T—benign
rs11600026447:42,002,529A/G—uncertain significance
rs8860623227:42,002,542T/C—uncertain significance
rs8860623237:42,002,562G/A—uncertain significance
rs7613518877:42,002,596G/A—uncertain significance
rs1160295857:42,002,631C/T—benign
rs771265937:42,002,632G/A—benign
rs8860623247:42,002,665G/A—uncertain significance
rs8860623257:42,002,689A/T—uncertain significance
rs760232407:42,002,841T/A—benign
rs589240647:42,002,848C/T—benign
rs8860623267:42,002,901G/A—uncertain significance
rs8860623277:42,002,921C/T—uncertain significance
rs8860623287:42,002,954A/T—uncertain significance
rs1397829387:42,002,985C/T—benign
rs1876646157:42,003,017T/C—benign
rs13183886337:42,003,039A/G—uncertain significance
rs1169864477:42,003,081G/T—benign
rs736886097:42,003,093C/T—benign
rs1146151367:42,003,187T/C—benign
rs1181577397:42,003,202T/C—benign
rs771972807:42,003,273T/C—benign
rs1821211457:42,003,325T/C—benign
rs8860623297:42,003,339A/G—uncertain significance
rs8860623307:42,003,416G/A—uncertain significance
rs20519357:42,003,500A/G—benign
rs9514015507:42,003,542T/C—uncertain significance
rs17870803557:42,003,595T/C—uncertain significance
rs1905315797:42,003,596A/G—likely benign
rs11893493237:42,003,617A/T—uncertain significance
rs2014933907:42,003,663T/G—conflicting classifications of pathogenicity
rs69724507:42,003,679T/A—benign
rs610919987:42,003,680A/T—conflicting classifications of pathogenicity
rs5316787607:42,003,743C/T—conflicting classifications of pathogenicity
rs8860623337:42,003,763T/C—uncertain significance
rs787947127:42,003,792A/T—benign
rs17870931477:42,003,855G/A—uncertain significance
rs8860623347:42,003,862C/A—uncertain significance
rs778865537:42,003,898C/A—benign
rs7615859187:42,003,900G/A—benign
rs1398961777:42,003,917T/C—likely benign
rs1870245937:42,003,919T/C—benign
rs3756539157:42,003,931T/C—likely benign
rs7506220817:42,003,940T/C—likely benign
rs5558881387:42,003,959T/C—likely benign
rs5775228447:42,003,961C/T—benign
rs413059337:42,003,962G/A—conflicting classifications of pathogenicity
rs9050114587:42,003,973C/T—likely benign
rs24843610367:42,003,988G/C—uncertain significance
rs21287046857:42,003,989T/C—uncertain significance
rs7602056247:42,003,991C/T—likely benign
rs13603481037:42,003,994G/T—likely benign
rs21287046897:42,003,995A/G—uncertain significance
rs15837271337:42,003,996T/C—uncertain significance
rs1512548597:42,004,017T/G—likely benign
rs7563354357:42,004,022A/G—likely benign
rs24843614487:42,004,029G/A—uncertain significance
rs3737896177:42,004,031A/T—likely benign

Showing 100 of 923 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.