DHTKD1

dehydrogenase E1 and transketolase domain containing 1

Summary

This gene encodes a component of a mitochondrial 2-oxoglutarate-dehydrogenase-complex-like protein involved in the degradation pathways of several amino acids, including lysine. Mutations in this gene are associated with 2-aminoadipic 2-oxoadipic aciduria and Charcot-Marie-Tooth Disease Type 2Q. [provided by RefSeq, May 2013]

Known Variants708 total

rsidPosition (GRCh37)AllelesClassClinVar
rs156438508110:12,111,033A/G—conflicting classifications of pathogenicity
rs76090354210:12,111,034T/G—uncertain significance
rs76539262110:12,111,040C/G—uncertain significance
rs36795904410:12,111,041T/A—likely benign
rs37180348710:12,111,054G/A—uncertain significance
rs19976896810:12,111,065G/A—likely benign
rs97287261810:12,111,068C/A—likely benign
rs14688121210:12,111,072G/C—uncertain significance
rs74740819410:12,111,073G/C—uncertain significance
rs119790416910:12,111,078G/A—uncertain significance
rs77119833010:12,111,081C/T—uncertain significance
rs134073486810:12,111,084C/T—uncertain significance
rs77003528910:12,111,089C/T—likely benign
rs127913810:12,111,090T/C—benign
rs135636013510:12,111,095G/T—uncertain significance
rs76441571710:12,111,096C/A—uncertain significance
rs89523753710:12,111,103A/G—uncertain significance
rs120221084910:12,111,126G/A—uncertain significance
rs119518469810:12,111,132C/A—likely benign
rs76625144210:12,111,134G/A—likely benign
rs75335552910:12,111,136C/T—uncertain significance
rs74774540410:12,111,145C/G—uncertain significance
rs118186213410:12,111,146C/T—likely benign
rs75769193310:12,111,147G/A—uncertain significance
rs142670776810:12,111,148A/G—uncertain significance
rs249144584410:12,111,156G/A—uncertain significance
rs148583772010:12,111,158G/A—likely benign
rs213134239410:12,111,159C/A—uncertain significance
rs127764988810:12,111,160C/G—uncertain significance
rs138463868810:12,111,167C/A—likely benign
rs56363139310:12,111,183C/G—uncertain significance
rs76884211510:12,111,184C/A—uncertain significance
rs249144594410:12,111,185A/T—uncertain significance
rs54314790510:12,111,186G/A—uncertain significance
rs124597800410:12,111,188T/G—uncertain significance
rs183261198710:12,111,192G/T—uncertain significance
rs124417168010:12,111,194A/G—likely benign
rs93371780410:12,111,201C/T—likely benign
rs183261214810:12,111,204G/A—likely benign
rs76773664910:12,111,205G/A—likely benign
rs118321602810:12,111,206C/A—likely benign
rs172244610:12,123,363T/A—benign
rs15099784510:12,123,387T/C—benign
rs77743538810:12,123,451T/A—likely benign
rs74624822310:12,123,454A/G—conflicting classifications of pathogenicity
rs75654262810:12,123,460C/T—likely benign
rs136328465910:12,123,470G/T—uncertain significance
rs78076358910:12,123,471T/C—uncertain significance
rs116022503810:12,123,472T/C—likely benign
rs249146551610:12,123,476C/T—uncertain significance
rs183281759910:12,123,479G/A—uncertain significance
rs76889508510:12,123,504A/T—uncertain significance
rs156438913110:12,123,506T/C—uncertain significance
rs138929822210:12,123,509G/C—uncertain significance
rs3464460910:12,123,525C/A—uncertain significance
rs183281860010:12,123,528C/T—uncertain significance
rs118392164610:12,123,543T/C—uncertain significance
rs37120900010:12,123,545T/G—uncertain significance
rs75944145210:12,123,548A/G—uncertain significance
rs13852634610:12,123,550C/T—likely benign
rs75217260910:12,123,551G/A—uncertain significance
rs249146576110:12,123,555A/C—uncertain significance
rs140748038610:12,123,556A/C—uncertain significance
rs76365931310:12,123,557G/A—uncertain significance
rs37554134910:12,123,559C/T—likely benign
rs93092522310:12,123,568G/C—uncertain significance
rs75545960710:12,123,571T/C—likely benign
rs77941587610:12,123,574G/T—likely benign
rs20120762410:12,123,575C/T—uncertain significance
rs113169162910:12,123,588C/T—uncertain significance
rs77218400810:12,123,594T/C—uncertain significance
rs149018243310:12,123,595G/A—likely benign
rs14076822410:12,123,603T/C—uncertain significance
rs249146584110:12,123,605C/A—uncertain significance
rs19995970010:12,123,610A/C—likely benign
rs76963295810:12,123,621C/T—uncertain significance
rs77543135210:12,123,622G/A—likely benign
rs3544232410:12,123,623G/T—conflicting classifications of pathogenicity
rs136439634610:12,123,628T/C—likely pathogenic
rs124602892510:12,123,636C/T—likely benign
rs249146589310:12,123,638G/A—likely benign
rs142466313210:12,123,642A/C—likely benign
rs1090606610:12,123,666C/T—benign
rs172244510:12,123,667A/C—benign
rs1079592910:12,123,771C/A—benign
rs1125752710:12,126,490A/T—benign
rs36861531910:12,126,519C/G—likely benign
rs76134606610:12,126,536C/G—uncertain significance
rs131388075210:12,126,543A/G—likely benign
rs75987232310:12,126,554G/A—uncertain significance
rs36918362210:12,126,557A/G—uncertain significance
rs20096774010:12,126,565G/C—uncertain significance
rs3563877110:12,126,597T/C—benign
rs115892941910:12,126,605A/G—uncertain significance
rs183287159610:12,126,615G/A—likely benign
rs145362456910:12,126,623T/C—uncertain significance
rs18524034710:12,126,629C/T—uncertain significance
rs75590271510:12,126,631T/G—uncertain significance
rs116166353910:12,126,636A/G—likely benign
rs95318620110:12,126,648G/C—uncertain significance

Showing 100 of 708 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.