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/Cuncertain significance
rs1409651717:137,076,015C/Tuncertain significance
rs2000494247:137,076,016G/Auncertain significance
rs25356677077:137,076,031C/Tuncertain significance
rs117663217:137,076,903G/Tintron variant
rs7723167307:137,080,442C/Tuncertain significance
rs7741003777:137,092,625G/Tuncertain significance
rs18120162407:137,092,651C/Tuncertain 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/Cuncertain significance
rs1416792697:137,148,276C/Guncertain significance
rs3717241117:137,148,293T/Cuncertain significance
rs13653138257:137,148,309G/Cuncertain significance
rs7727287307:137,148,316A/Tuncertain significance
rs1500624197:137,154,314G/Auncertain significance
rs1487797917:137,172,408C/Tuncertain significance
rs3758057307:137,172,418G/Tuncertain significance
rs64677107:137,203,819G/Cintron variant
rs25360132307:137,206,648C/Tuncertain significance
rs1416646887:137,206,653T/Cuncertain significance
rs7678892227:137,206,680C/Tuncertain significance
rs7794646437:137,206,711G/Cuncertain significance
rs8340627:137,227,650T/Cintron variant
rs25360862067:137,237,161T/Cuncertain significance
rs25360864487:137,237,231C/Guncertain significance
rs7687801357:137,237,268C/Tuncertain significance
rs1123912517:137,245,499G/Aintron variant
rs8684000847:137,263,050T/Cuncertain significance
rs624904697:137,284,709T/Gintron variant
rs7472067207:137,293,794C/Tuncertain significance
rs13416720397:137,330,244C/Tuncertain significance
rs7675349027:137,330,253G/Auncertain significance
rs7634356267:137,330,257G/Cuncertain significance
rs7795190997:137,339,534T/Cuncertain significance
rs14147876247:137,374,659C/Guncertain significance
rs3681094877:137,374,719T/Cuncertain 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/Cuncertain significance
rs17987384817:137,531,280C/Tuncertain significance
rs13851545567:137,531,297G/Clikely benign
rs7620196817:137,531,335C/Auncertain significance
rs7736188687:137,531,337C/Auncertain significance
rs7651451957:137,531,341G/Auncertain significance
rs11737068547:137,531,370C/Guncertain significance
rs14424911427:137,531,394C/Guncertain significance
rs13257045707:137,531,400C/Tuncertain significance
rs9150231617:137,531,404T/Cuncertain significance
rs25358470767:137,531,419C/Tuncertain significance
rs25358470877:137,531,420T/Auncertain significance
rs25358471807:137,531,434C/Tuncertain significance
rs25358474457:137,531,479G/Cuncertain significance
rs17987516727:137,531,502G/Tuncertain significance
rs14171694977:137,531,514C/Tuncertain significance
rs10032048457:137,531,526G/Cuncertain significance
rs25358479077:137,531,550G/Auncertain significance
rs9638171597:137,531,556C/Guncertain significance
rs13658402677:137,531,565G/Tuncertain significance
rs9226705377:137,531,571A/Tuncertain significance
rs14533936697:137,531,598G/Tuncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.