HK1

hexokinase 1

Summary

Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes a ubiquitous form of hexokinase which localizes to the outer membrane of mitochondria. Mutations in this gene have been associated with hemolytic anemia due to hexokinase deficiency. Alternative splicing of this gene results in several transcript variants which encode different isoforms, some of which are tissue-specific. [provided by RefSeq, Apr 2016]

Known Variants585 total

rsidPosition (GRCh37)AllelesClassClinVar
rs18740400410:71,029,943G/Adownstream gene variant—
rs14469040510:71,038,440G/A—likely benign
rs79704496410:71,038,447G/C—not provided
rs39751465410:71,038,467G/C—pathogenic
rs54510291110:71,039,782G/A—conflicting classifications of pathogenicity
rs158943950810:71,048,500A/G—likely pathogenic
rs76656545310:71,048,503G/A—uncertain significance
rs77925053010:71,048,518C/T—pathogenic
rs121286738310:71,048,526G/A—uncertain significance
rs18656717110:71,052,042T/A—likely benign
rs19251698810:71,052,060G/A—uncertain significance
rs474683610:71,052,083C/T—benign
rs20162699710:71,055,389G/T—benign
rs7900295110:71,055,414T/C—likely benign
rs75125019910:71,055,418T/C—likely benign
rs37216202310:71,055,452T/C—likely benign
rs474683710:71,055,459C/T—benign
rs90622010:71,060,610G/A—benign
rs75324177710:71,060,618G/C—uncertain significance
rs110827210:71,060,621C/T—benign
rs37297036910:71,060,622G/A—likely benign
rs90622110:71,060,634G/A—benign
rs54688006710:71,062,721C/A——
rs18289836310:71,075,338A/Cregulatory region variant—
rs18750077710:71,075,518A/Gregulatory region variantpathogenic
rs77628291910:71,075,694T/C—uncertain significance
rs75616603210:71,075,744C/T—conflicting classifications of pathogenicity
rs76939594310:71,075,772T/A—conflicting classifications of pathogenicity
rs1099871210:71,075,901A/Gregulatory region variant—
rs76952057010:71,078,715G/T—likely benign
rs77286143710:71,078,727C/G—likely benign
rs74867972510:71,078,739G/T—likely benign
rs145501358310:71,078,743C/T—likely benign
rs95763557510:71,078,756A/G—uncertain significance
rs254013894110:71,078,758G/A—uncertain significance
rs213256424810:71,078,774C/T—likely benign
rs76790359610:71,078,775C/G—likely benign
rs121429460510:71,078,785C/A—likely benign
rs14623837810:71,085,215G/Aintron variant—
rs1692624610:71,093,392C/Tregulatory region variant—
rs19005025010:71,096,133G/Aintron variant—
rs1015947710:71,099,888G/Aregulatory region variant—
rs707226810:71,099,913T/A——
rs7326574910:71,100,920C/Tintron variant—
rs95162669410:71,103,565C/T—likely benign
rs101044289010:71,103,570C/T—likely benign
rs137783928810:71,103,584T/C—uncertain significance
rs184841532310:71,103,588C/T—likely benign
rs113318910:71,103,597C/G—benign
rs20189377810:71,103,603C/T—likely benign
rs101452806310:71,103,605T/C—uncertain significance
rs77263778110:71,103,608G/A—uncertain significance
rs14991982610:71,103,615C/T—likely benign
rs37542511710:71,103,616G/A—uncertain significance
rs184841928010:71,103,635T/C—uncertain significance
rs76999894710:71,103,670C/T—uncertain significance
rs76311987710:71,103,677G/A—uncertain significance
rs75265060910:71,103,688C/A—uncertain significance
rs254024448010:71,103,692C/T—uncertain significance
rs184842441610:71,103,696C/T—likely benign
rs254024453110:71,103,708G/A—uncertain significance
rs148448354910:71,103,713C/T—uncertain significance
rs3441008310:71,103,717A/T—likely benign
rs77083198510:71,103,720C/T—likely benign
rs254024461010:71,103,725G/A—uncertain significance
rs213268340110:71,103,733C/T—uncertain significance
rs213268342110:71,103,734C/T—uncertain significance
rs254024468410:71,103,747T/A—likely pathogenic
rs75787830610:71,103,754G/T—likely benign
rs54428587410:71,111,187C/A——
rs213273338210:71,114,538A/T—uncertain significance
rs90673548310:71,119,634C/T—likely benign
rs254032737310:71,119,647A/G—likely benign
rs89673041010:71,119,648A/C—likely benign
rs213276230910:71,119,676G/A—uncertain significance
rs254032762310:71,119,693C/G—likely benign
rs254032763110:71,119,697C/T—conflicting classifications of pathogenicity
rs76070425910:71,119,706C/T—uncertain significance
rs117665440010:71,119,707G/A—pathogenic
rs20107210510:71,119,722A/G—uncertain significance
rs254032776810:71,119,724G/C—uncertain significance
rs75364584510:71,119,731A/C—uncertain significance
rs123503499010:71,119,734A/G—uncertain significance
rs76165978610:71,119,742C/T—uncertain significance
rs76484158310:71,119,743A/T—uncertain significance
rs184933274610:71,119,750G/T—uncertain significance
rs118887080710:71,119,753C/T—likely benign
rs100389440910:71,119,778A/G—uncertain significance
rs74954583410:71,119,786C/T—likely benign
rs77457956010:71,119,797G/A—conflicting classifications of pathogenicity
rs20023456110:71,119,798C/T—benign
rs37527073510:71,119,811T/C—likely benign
rs254032838110:71,119,816C/T—likely benign
rs20203544510:71,119,820C/T—likely benign
rs19972298310:71,119,821G/A—likely benign
rs254034948410:71,124,528G/A—likely benign
rs184961226510:71,124,531T/A—likely benign
rs92848161310:71,124,547T/A—uncertain significance
rs254034962910:71,124,551G/A—uncertain significance
rs184961438410:71,124,566G/C—uncertain significance

Showing 100 of 585 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.