TCF12

transcription factor 12

Summary

The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH) E-protein family that recognizes the consensus binding site (E-box) CANNTG. This encoded protein is expressed in many tissues, among them skeletal muscle, thymus, B- and T-cells, and may participate in regulating lineage-specific gene expression through the formation of heterodimers with other bHLH E-proteins. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]

Known Variants287 total

rsidPosition (GRCh37)AllelesClassClinVar
rs56604096115:57,211,755G/A—likely benign
rs18699727815:57,211,962A/G—likely benign
rs11440902515:57,211,998C/G—likely benign
rs128672775015:57,212,122A/T—uncertain significance
rs254890602115:57,212,134T/C—uncertain significance
rs93955227915:57,212,168C/T—likely benign
rs11481057915:57,212,205G/C—benign
rs19192165715:57,212,473G/A—likely benign
rs6097200215:57,213,019A/G—benign
rs7658858115:57,213,179T/C—likely benign
rs7596044715:57,213,206A/G—benign
rs77170221215:57,213,228T/A—uncertain significance
rs125933367415:57,213,255C/G—uncertain significance
rs76859043215:57,213,260C/T—uncertain significance
rs205977024815:57,213,278A/G—uncertain significance
rs3561543515:57,213,283A/G—benign
rs145849309215:57,213,291G/A—uncertain significance
rs21315215:57,213,571G/A—benign
rs211606515:57,254,593T/C——
rs7274949915:57,295,579A/Gregulatory region variant—
rs7274950215:57,297,078A/Tintron variant—
rs182099515:57,332,971A/C——
rs243590715:57,333,416A/C——
rs270357715:57,354,415A/T——
rs76952816315:57,356,005C/T—uncertain significance
rs255104760415:57,356,022G/A—likely pathogenic
rs255104761915:57,356,038A/G—likely benign
rs7341335115:57,356,089G/T—likely benign
rs7589036015:57,356,252C/T—benign
rs75388646515:57,364,861C/G—likely benign
rs2849013915:57,369,850G/Aintron variant—
rs1290058915:57,373,236T/Cintron variant—
rs5985418215:57,377,536G/T——
rs7273191415:57,378,824G/Aintron variant—
rs1723920815:57,383,100A/C——
rs255108419315:57,383,997A/G—uncertain significance
rs74722265115:57,384,032C/T—pathogenic
rs255108426115:57,384,060C/T—uncertain significance
rs3456009915:57,384,061A/G—benign
rs53958869715:57,384,075A/G—likely benign
rs255108428415:57,384,078C/A—likely pathogenic
rs7441466415:57,384,085G/A—likely benign
rs255108430515:57,384,091T/C—likely pathogenic
rs37756108615:57,384,106C/T—likely benign
rs19189332815:57,397,181C/T——
rs477491015:57,410,217T/A——
rs11748389415:57,456,802A/Gintron variant—
rs5979903615:57,458,343G/T—benign
rs11508043415:57,458,463T/C—likely benign
rs37583716615:57,458,587C/G—likely benign
rs18076850515:57,458,613G/C—likely benign
rs75825606815:57,458,615G/A—uncertain significance
rs119379967615:57,458,630T/C—uncertain significance
rs146187255915:57,458,641G/C—uncertain significance
rs255127894015:57,458,642A/G—uncertain significance
rs75740038315:57,458,644A/G—uncertain significance
rs205490195615:57,458,669G/A—uncertain significance
rs379461715:57,458,784C/T—benign
rs259324615:57,458,901A/G—benign
rs13919126715:57,458,915T/C—likely benign
rs5923911215:57,458,932A/G—benign
rs261525215:57,473,075T/Cintron variant—
rs273330115:57,484,212C/A—likely benign
rs8000099515:57,484,316C/T—benign
rs215171059815:57,484,363T/C—uncertain significance
rs7441780515:57,484,386G/A—uncertain significance
rs205701724515:57,484,411C/G—likely pathogenic
rs14856137815:57,484,419C/T—uncertain significance
rs136535471215:57,484,422G/T—pathogenic
rs77071763115:57,484,426C/T—uncertain significance
rs119906329415:57,484,443T/C—uncertain significance
rs139164262515:57,484,468C/T—uncertain significance
rs14290333015:57,484,486C/T—likely benign
rs255131415415:57,484,492G/A—conflicting classifications of pathogenicity
rs77047301115:57,484,508A/G—likely benign
rs1291448115:57,484,613G/A—benign
rs6202221415:57,484,679T/A—likely benign
rs1163306115:57,488,193A/Cintron variant—
rs7928200415:57,489,743C/T—benign
rs18604425715:57,489,952T/G—benign
rs93657393015:57,489,965C/A—uncertain significance
rs77207623715:57,490,006C/T—likely benign
rs215174423615:57,490,025T/C—likely pathogenic
rs76846305115:57,490,028G/T—pathogenic
rs1781999415:57,490,034A/G—benign
rs1697729715:57,490,245T/A—benign
rs270359515:57,490,290A/G—benign
rs7273390615:57,494,392A/Tintron variant—
rs14751918515:57,511,437C/T—likely benign
rs205848147615:57,511,723T/C—uncertain significance
rs19957456415:57,511,749G/C—likely benign
rs2849564815:57,511,964C/T—benign
rs14300003515:57,511,995C/T—likely benign
rs19085124715:57,512,058G/A—likely benign
rs1290315115:57,517,552C/A——
rs13891596915:57,523,269C/A—likely benign
rs11791453215:57,523,338T/C—likely benign
rs76230481815:57,523,354A/G—uncertain significance
rs255143760215:57,523,365C/G—uncertain significance
rs75443410615:57,523,375A/G—uncertain significance

Showing 100 of 287 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.