TTC12

tetratricopeptide repeat domain 12

Summary

Involved in axonemal dynein complex assembly and sperm axoneme assembly. Located in several cellular components, including centrosome; cytosol; and nuclear membrane. Implicated in acute lymphoblastic leukemia; alcohol dependence; drug dependence (multiple); nicotine dependence; and primary ciliary dyskinesia 45. [provided by Alliance of Genome Resources, Jul 2025]

Known Variants84 total

rsidPosition (GRCh37)AllelesClassClinVar
rs223670911:113,186,776G/A—benign
rs713007211:113,186,879C/T—benign
rs78181043111:113,187,005T/G—uncertain significance
rs5593942511:113,193,836A/C—benign
rs72307811:113,193,963C/G—benign
rs4545759611:113,193,976C/T—benign
rs194746228011:113,194,006C/G—likely benign
rs13970083211:113,194,036G/C—uncertain significance
rs78227400611:113,194,053A/T—uncertain significance
rs14526164211:113,194,067T/C—uncertain significance
rs78211939311:113,194,085T/G—uncertain significance
rs14885364311:113,194,093A/G—uncertain significance
rs14143236011:113,194,136A/G—uncertain significance
rs72307711:113,194,168A/C—benign
rs78237850311:113,195,365C/T—pathogenic
rs94817811:113,195,595G/A—benign
rs11228375511:113,196,252A/G—uncertain significance
rs1050217211:113,199,146C/Tintron variant—
rs792897811:113,200,558A/G—benign
rs230338011:113,200,709A/G—benign
rs7818356811:113,200,731A/G—benign
rs78217136811:113,205,757G/A—uncertain significance
rs1089153611:113,209,428C/G—benign
rs228815911:113,211,329G/T—benign
rs1089153711:113,211,370T/G—benign
rs55468018211:113,211,410T/A—uncertain significance
rs78246497211:113,211,415A/G—likely benign
rs658937211:113,212,553T/C—benign
rs78267961511:113,212,613T/C—likely benign
rs78271980811:113,212,637C/G—uncertain significance
rs78180145811:113,212,638A/G—uncertain significance
rs37297099511:113,215,005C/T—uncertain significance
rs37348710311:113,215,006G/A—uncertain significance
rs118496706911:113,215,027A/G—uncertain significance
rs20101024911:113,215,047G/A—likely benign
rs1711538011:113,215,124C/T—benign
rs20179322911:113,220,831G/C—likely benign
rs78193301611:113,220,874G/A—uncertain significance
rs14202949411:113,220,911C/T—benign
rs78227275111:113,221,986C/A—uncertain significance
rs254877600011:113,222,008T/C—uncertain significance
rs78183364611:113,222,864G/A—uncertain significance
rs120026845911:113,222,894T/C—uncertain significance
rs7753477311:113,222,931T/C—likely benign
rs1711539311:113,222,984G/T—benign
rs11267072411:113,223,134T/A—benign
rs1160600811:113,229,935T/C—benign
rs155515378411:113,230,119A/G—uncertain significance
rs146269851111:113,230,161T/C—uncertain significance
rs227607011:113,230,600C/T—benign
rs78181616011:113,230,683A/G—uncertain significance
rs78260393211:113,230,733A/T—pathogenic
rs493800911:113,230,928A/G—benign
rs229849011:113,233,059A/G—benign
rs14082233611:113,233,144C/T—uncertain significance
rs20124491611:113,233,186C/T—pathogenic
rs13846845011:113,233,189G/A—uncertain significance
rs53375178511:113,233,192G/C—uncertain significance
rs37295565811:113,233,208T/G—pathogenic
rs14433645111:113,233,221G/T—likely benign
rs71323311:113,234,466G/A—benign
rs71980311:113,234,471A/G—benign
rs37236834411:113,234,575A/G—uncertain significance
rs3494027711:113,234,603G/A—likely benign
rs20066744311:113,234,622C/T—uncertain significance
rs53279322211:113,234,623G/C—uncertain significance
rs19955978411:113,234,625G/A—uncertain significance
rs19952677411:113,234,634A/G—conflicting classifications of pathogenicity
rs76850434511:113,234,646A/G—uncertain significance
rs71980211:113,234,679T/C—benign
rs71980411:113,234,775G/A—benign
rs229848911:113,235,419A/G—benign
rs11502339111:113,235,465G/A—benign
rs14060038511:113,235,674C/T—conflicting classifications of pathogenicity
rs76531820911:113,235,715A/G—likely benign
rs75695120211:113,235,742G/A—uncertain significance
rs76866429511:113,235,776A/T—uncertain significance
rs14334052311:113,235,788C/G—likely benign
rs794924211:113,235,864A/G—benign
rs6174478511:113,236,974T/C—likely benign
rs125467234111:113,237,011A/C—uncertain significance
rs793268411:113,237,191G/T—benign
rs218679911:113,242,533G/A——
rs13883038311:113,243,317A/Gregulatory region variant—

Gene information from NCBI Gene. Variant classifications from ClinVar.