TFAM

transcription factor A, mitochondrial

Summary

This gene encodes a key mitochondrial transcription factor containing two high mobility group motifs. The encoded protein also functions in mitochondrial DNA replication and repair. Sequence polymorphisms in this gene are associated with Alzheimer's and Parkinson's diseases. There are pseudogenes for this gene on chromosomes 6, 7, and 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

Known Variants75 total

rsidPosition (GRCh37)AllelesClassClinVar
rs11583099110:60,144,607G/A—likely benign
rs227934010:60,144,884C/T—benign
rs790482610:60,144,957C/T—likely benign
rs227933910:60,144,998C/A—benign
rs1691217410:60,145,052T/G—benign
rs1224701510:60,145,079A/G—benign
rs13897180010:60,145,217C/A—likely benign
rs4128368610:60,145,258A/G—likely benign
rs144849245810:60,145,317C/G—uncertain significance
rs75688903210:60,145,335G/T—uncertain significance
rs193710:60,145,342G/Cmissense variantbenign
rs74741689910:60,145,356T/C—uncertain significance
rs142609255710:60,145,421G/C—likely benign
rs439779310:60,145,597G/C—benign
rs7279742910:60,145,774A/G—likely benign
rs390088710:60,145,795T/A—benign
rs11511200910:60,145,815C/T—likely benign
rs20128921010:60,145,973T/A—likely benign
rs249208189710:60,145,974A/G—likely benign
rs37661869110:60,146,017G/A—uncertain significance
rs7832562710:60,146,061T/C—benign
rs141415579610:60,146,063A/C—uncertain significance
rs20175706310:60,146,064A/G—likely benign
rs13967598910:60,147,776A/G—likely benign
rs1076353710:60,147,784G/A—benign
rs227725610:60,147,934C/T—benign
rs76941507210:60,147,947T/C—uncertain significance
rs36820270510:60,148,007A/G—uncertain significance
rs37675470110:60,148,009T/G—uncertain significance
rs20184699710:60,148,029A/G—conflicting classifications of pathogenicity
rs14518859510:60,148,105C/A—likely benign
rs76453926810:60,148,415G/C—likely benign
rs15109772810:60,148,436C/G—uncertain significance
rs53728316110:60,148,451G/A—uncertain significance
rs13951471910:60,148,453G/A—likely benign
rs14970415810:60,148,460C/G—likely benign
rs7741879010:60,148,464T/C—likely benign
rs77524172810:60,148,514A/G—uncertain significance
rs249209064010:60,148,548A/G—uncertain significance
rs55300966610:60,148,567G/A—uncertain significance
rs14021074810:60,148,569C/A—uncertain significance
rs7891219610:60,148,570A/C—likely benign
rs75377441710:60,148,595A/C—likely benign
rs230660410:60,148,692A/Gintron variantbenign
rs1691218810:60,148,751A/G—benign
rs14079889810:60,148,793A/G—benign
rs14071466410:60,150,243G/T—likely benign
rs4560224110:60,150,291G/T—likely benign
rs1100613010:60,150,445A/G—benign
rs137521251110:60,150,558C/T—uncertain significance
rs128583048210:60,150,573G/A—conflicting classifications of pathogenicity
rs37705349410:60,150,587A/G—likely benign
rs249209650410:60,150,588A/C—likely benign
rs75707571210:60,150,616C/Tmissense variantpathogenic
rs37149219810:60,150,617G/A—likely benign
rs57806962110:60,153,680T/C——
rs11438863210:60,153,830A/C—likely benign
rs249210435610:60,154,115C/T—uncertain significance
rs1226629510:60,154,185C/T—benign
rs4128368810:60,154,186G/A—benign
rs20104121610:60,154,207A/G—likely benign
rs4128369010:60,154,213A/G—benign
rs4556473710:60,154,659A/G—likely benign
rs14009593910:60,154,677C/T—likely benign
rs75880122510:60,154,715G/A—likely benign
rs78033019810:60,154,726T/C—likely benign
rs74825878210:60,154,766G/A—uncertain significance
rs184065711310:60,154,785T/C—uncertain significance
rs77400957510:60,154,787C/T—uncertain significance
rs14527046910:60,154,790C/T—uncertain significance
rs37575211910:60,154,791G/A—uncertain significance
rs77881192610:60,154,808C/T—uncertain significance
rs14401336410:60,154,816T/C—likely benign
rs75512039810:60,154,829T/G—uncertain significance
rs104943210:60,155,120G/T—benign

Gene information from NCBI Gene. Variant classifications from ClinVar.