TRPS1

transcriptional repressor GATA binding 1

Summary

This gene encodes a transcription factor that represses GATA-regulated genes and binds to a dynein light chain protein. Binding of the encoded protein to the dynein light chain protein affects binding to GATA consensus sequences and suppresses its transcriptional activity. Defects in this gene are a cause of tricho-rhino-phalangeal syndrome (TRPS) types I-III. [provided by RefSeq, Jul 2008]

Known Variants527 total

rsidPosition (GRCh37)AllelesClassClinVar
rs2311538:116,421,434G/C—uncertain significance
rs8008988:116,423,424T/C—uncertain significance
rs793382328:116,423,834C/T—uncertain significance
rs13351708908:116,426,281T/G—uncertain significance
rs18128508918:116,426,284T/C—likely benign
rs7530345458:116,426,288T/C—uncertain significance
rs13435410178:116,426,290G/T—uncertain significance
rs7783311758:116,426,303C/G—uncertain significance
rs5501196118:116,426,338C/T—likely benign
rs3768755688:116,426,339G/A—conflicting classifications of pathogenicity
rs10647946978:116,426,352G/Astop gainedpathogenic
rs2010290968:116,426,366T/C—conflicting classifications of pathogenicity
rs13392562638:116,426,380G/A—likely benign
rs12344764018:116,426,385C/T—uncertain significance
rs21297454828:116,426,387T/G—uncertain significance
rs25365807718:116,426,399T/A—likely pathogenic
rs18128552238:116,426,400G/A—uncertain significance
rs25365807978:116,426,409A/G—uncertain significance
rs3742095448:116,426,412T/G—uncertain significance
rs9693641168:116,426,419A/T—uncertain significance
rs21297456708:116,426,420T/C—uncertain significance
rs1818585528:116,426,433T/C—conflicting classifications of pathogenicity
rs21297457518:116,426,435C/T—uncertain significance
rs15862492608:116,426,438C/T—likely pathogenic
rs5527909598:116,426,469G/C—likely benign
rs13906691728:116,426,499C/G—uncertain significance
rs18128580158:116,426,501A/C—uncertain significance
rs21297462178:116,426,507A/C—uncertain significance
rs13878140428:116,426,509G/C—likely benign
rs10324443088:116,426,515T/C—likely benign
rs21297463128:116,426,516T/C—uncertain significance
rs13385839228:116,426,520T/A—uncertain significance
rs8903035578:116,426,524T/C—likely benign
rs1857259068:116,426,542C/T—likely benign
rs5522630378:116,426,552T/C—uncertain significance
rs10049482118:116,426,562C/T—likely benign
rs3750823728:116,426,563G/A—likely benign
rs21297467328:116,426,575C/T—likely benign
rs7643875718:116,426,596C/T—likely benign
rs13089948228:116,426,618T/C—uncertain significance
rs9863399988:116,426,621T/C—uncertain significance
rs8792553998:116,426,622C/G—uncertain significance
rs7678249048:116,426,623T/C—likely benign
rs7668221838:116,426,631C/A—uncertain significance
rs7494234538:116,426,634C/A—uncertain significance
rs25365815268:116,426,650C/T—likely benign
rs5474267848:116,426,654T/C—benign
rs5656394298:116,426,659G/A—likely benign
rs3768137998:116,426,693G/C—uncertain significance
rs18128643348:116,426,697G/A—likely benign
rs7456193538:116,426,707G/A—likely benign
rs3726058168:116,426,723G/A—conflicting classifications of pathogenicity
rs25365817648:116,426,735A/G—uncertain significance
rs1435005118:116,426,736C/T—uncertain significance
rs3694115338:116,426,737G/A—likely benign
rs3716425488:116,426,746A/G—likely benign
rs7735936518:116,426,762C/T—uncertain significance
rs7668771778:116,426,771T/A—uncertain significance
rs13102825268:116,426,772C/T—uncertain significance
rs18128674708:116,426,786A/G—uncertain significance
rs3689802498:116,426,799C/T—conflicting classifications of pathogenicity
rs7568905928:116,426,803G/C—likely benign
rs1480236278:116,426,808G/A—conflicting classifications of pathogenicity
rs8860425078:116,426,817——pathogenic
rs21297487218:116,426,819G/T—uncertain significance
rs1219084348:116,426,821G/Cstop gainedpathogenic
rs25365821168:116,426,868G/A—uncertain significance
rs7686099908:116,426,872C/T—likely benign
rs7789463438:116,426,873G/C—uncertain significance
rs25365822128:116,426,907T/A—pathogenic
rs1901862848:116,426,912G/C—likely benign
rs25365822518:116,426,931A/T—uncertain significance
rs2001079358:116,426,934C/T—likely benign
rs12979211588:116,426,935G/A—likely benign
rs14262384028:116,426,949C/T—likely benign
rs25365823288:116,426,951G/A—uncertain significance
rs7718345488:116,426,958C/A—likely pathogenic
rs13874508048:116,426,960G/C—uncertain significance
rs1810352648:116,426,988T/A—likely benign
rs2008768878:116,426,996G/A—uncertain significance
rs12867298988:116,427,020A/G—uncertain significance
rs7536296558:116,427,031G/A—likely benign
rs25365826378:116,427,069A/G—likely benign
rs11804355868:116,427,076C/A—uncertain significance
rs18128764988:116,427,084C/T—uncertain significance
rs1408394198:116,427,085G/A—likely benign
rs13242002168:116,427,108G/C—uncertain significance
rs13515140848:116,427,116C/T—uncertain significance
rs1998394118:116,427,121G/C—likely benign
rs7598918798:116,427,128T/C—likely benign
rs2021589918:116,427,148C/T—conflicting classifications of pathogenicity
rs2010309378:116,427,160C/T—conflicting classifications of pathogenicity
rs14234158948:116,427,161G/A—uncertain significance
rs7527413638:116,427,178C/T—benign
rs25365829658:116,427,182T/G—uncertain significance
rs14276938958:116,427,206T/C—conflicting classifications of pathogenicity
rs18128818028:116,427,217A/G—likely benign
rs5759895038:116,427,229C/G—uncertain significance
rs2004782958:116,427,241G/T—likely benign
rs289390708:116,427,242C/Tmissense variantpathogenic

Showing 100 of 527 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.