DGKI

diacylglycerol kinase iota

Summary

This gene is a member of the type IV diacylglycerol kinase subfamily. Diacylglycerol kinases regulate the intracellular concentration of diacylglycerol through its phosphorylation, producing phosphatidic acid. The specific role of the enzyme encoded by this gene is undetermined, however, it may play a crucial role in the production of phosphatidic acid in the retina or in recessive forms of retinal degeneration. [provided by RefSeq, Jul 2008]

Known Variants67 total

rsidPosition (GRCh37)AllelesClassClinVar
rs18113526577:137,076,009T/C—uncertain significance
rs1409651717:137,076,015C/T—uncertain significance
rs2000494247:137,076,016G/A—uncertain significance
rs25356677077:137,076,031C/T—uncertain significance
rs117663217:137,076,903G/Tintron variant—
rs7723167307:137,080,442C/T—uncertain significance
rs7741003777:137,092,625G/T—uncertain significance
rs18120162407:137,092,651C/T—uncertain significance
rs108082927:137,103,538C/Tintron variant—
rs1448043067:137,110,985G/Aintron variant—
rs102378027:137,111,392A/G——
rs47284107:137,111,791T/G——
rs615740897:137,114,765G/C——
rs5717346537:137,143,697C/A——
rs5377642887:137,148,268T/C—uncertain significance
rs1416792697:137,148,276C/G—uncertain significance
rs3717241117:137,148,293T/C—uncertain significance
rs13653138257:137,148,309G/C—uncertain significance
rs7727287307:137,148,316A/T—uncertain significance
rs1500624197:137,154,314G/A—uncertain significance
rs1487797917:137,172,408C/T—uncertain significance
rs3758057307:137,172,418G/T—uncertain significance
rs64677107:137,203,819G/Cintron variant—
rs25360132307:137,206,648C/T—uncertain significance
rs1416646887:137,206,653T/C—uncertain significance
rs7678892227:137,206,680C/T—uncertain significance
rs7794646437:137,206,711G/C—uncertain significance
rs8340627:137,227,650T/Cintron variant—
rs25360862067:137,237,161T/C—uncertain significance
rs25360864487:137,237,231C/G—uncertain significance
rs7687801357:137,237,268C/T—uncertain significance
rs1123912517:137,245,499G/Aintron variant—
rs8684000847:137,263,050T/C—uncertain significance
rs624904697:137,284,709T/Gintron variant—
rs7472067207:137,293,794C/T—uncertain significance
rs13416720397:137,330,244C/T—uncertain significance
rs7675349027:137,330,253G/A—uncertain significance
rs7634356267:137,330,257G/C—uncertain significance
rs7795190997:137,339,534T/C—uncertain significance
rs14147876247:137,374,659C/G—uncertain significance
rs3681094877:137,374,719T/C—uncertain significance
rs78023427:137,435,925T/Gintron variant—
rs119760847:137,437,156C/Tintron variant—
rs47322677:137,457,120G/A——
rs69782307:137,529,578G/Aintron variant—
rs3771864777:137,531,264G/C—uncertain significance
rs17987384817:137,531,280C/T—uncertain significance
rs13851545567:137,531,297G/C—likely benign
rs7620196817:137,531,335C/A—uncertain significance
rs7736188687:137,531,337C/A—uncertain significance
rs7651451957:137,531,341G/A—uncertain significance
rs11737068547:137,531,370C/G—uncertain significance
rs14424911427:137,531,394C/G—uncertain significance
rs13257045707:137,531,400C/T—uncertain significance
rs9150231617:137,531,404T/C—uncertain significance
rs25358470767:137,531,419C/T—uncertain significance
rs25358470877:137,531,420T/A—uncertain significance
rs25358471807:137,531,434C/T—uncertain significance
rs25358474457:137,531,479G/C—uncertain significance
rs17987516727:137,531,502G/T—uncertain significance
rs14171694977:137,531,514C/T—uncertain significance
rs10032048457:137,531,526G/C—uncertain significance
rs25358479077:137,531,550G/A—uncertain significance
rs9638171597:137,531,556C/G—uncertain significance
rs13658402677:137,531,565G/T—uncertain significance
rs9226705377:137,531,571A/T—uncertain significance
rs14533936697:137,531,598G/T—uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.