PDE6G

phosphodiesterase 6G

Summary

This gene encodes the gamma subunit of cyclic GMP-phosphodiesterase, which is composed of alpha- and beta- catalytic subunits and two identical, inhibitory gamma subunits. This gene is expressed in rod photoreceptors and functions in the phototransduction signaling cascade. It is also expressed in a variety of other tissues, and has been shown to regulate the c-Src protein kinase and G-protein-coupled receptor kinase 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2009]

Known Variants90 total

rsidPosition (GRCh37)AllelesClassClinVar
rs343217:79,617,534A/G—benign
rs11665573217:79,617,541A/G—likely benign
rs147953068417:79,617,575G/A—uncertain significance
rs11425093217:79,617,578G/A—likely benign
rs112683517:79,617,620A/C—benign
rs57503171817:79,617,684C/T—uncertain significance
rs1337217:79,617,705G/A—benign
rs5765404817:79,617,711G/A—benign
rs203633590917:79,617,762G/A—uncertain significance
rs6090911617:79,617,788C/T—benign
rs112681817:79,617,830G/A—benign
rs890817:79,617,871A/G—benign
rs92666539117:79,617,897C/T—uncertain significance
rs847717:79,618,059C/T—benign
rs20023662817:79,618,100C/T—uncertain significance
rs76303144717:79,618,110G/A—likely benign
rs214439579117:79,618,112T/A—uncertain significance
rs125802588217:79,618,119T/C—likely benign
rs119899061817:79,618,120T/C—uncertain significance
rs250980478117:79,618,121G/A—uncertain significance
rs77251555317:79,618,123G/A—uncertain significance
rs132730956217:79,618,130C/T—uncertain significance
rs19971001217:79,618,131G/A—likely benign
rs142440827417:79,618,141A/G—uncertain significance
rs214439594817:79,618,146G/T—uncertain significance
rs37658759017:79,618,152G/A—likely benign
rs140580815317:79,618,153G/C—uncertain significance
rs76179478117:79,618,154C/T—uncertain significance
rs250980484417:79,618,158C/A—uncertain significance
rs20137021517:79,618,161A/G—likely benign
rs203634593317:79,618,162G/T—uncertain significance
rs250980487217:79,618,174G/A—uncertain significance
rs36864048717:79,618,194G/T—uncertain significance
rs13906271417:79,618,200C/A—likely benign
rs54208949317:79,618,659C/T—benign
rs119347497917:79,618,662G/A—likely benign
rs74947442817:79,618,667C/T—likely benign
rs20058153917:79,618,668G/A—likely benign
rs159871705617:79,618,674C/A—pathogenic
rs250980556817:79,618,681C/T—uncertain significance
rs159871707017:79,618,683A/G—uncertain significance
rs77952529017:79,618,686C/T—uncertain significance
rs37259211517:79,618,687C/T—uncertain significance
rs203635837017:79,618,700G/A—likely benign
rs11701195417:79,618,706G/A—likely benign
rs96163532417:79,618,707T/G—uncertain significance
rs77314528517:79,618,709C/T—likely benign
rs250980563617:79,618,714A/G—uncertain significance
rs76067735417:79,618,722G/C—likely benign
rs76649440017:79,618,724A/T—uncertain significance
rs148047552717:79,618,735A/G—uncertain significance
rs118253237517:79,620,170C/T—likely benign
rs118196825117:79,620,178A/G—likely benign
rs141821984417:79,620,180C/T—likely benign
rs37312107117:79,620,186T/C—uncertain significance
rs77673720917:79,620,187T/C—uncertain significance
rs53504811417:79,620,196A/C—likely benign
rs76307099217:79,620,197C/T—uncertain significance
rs76444258717:79,620,198G/A—likely benign
rs75188904517:79,620,213C/T—likely benign
rs18113720617:79,620,219C/G—conflicting classifications of pathogenicity
rs134162374817:79,620,238C/T—uncertain significance
rs75445411317:79,620,239G/A—pathogenic
rs214440149917:79,620,253G/T—uncertain significance
rs54601996717:79,620,255G/A—conflicting classifications of pathogenicity
rs142426379417:79,620,257G/A—uncertain significance
rs11337043217:79,620,262T/C—likely benign
rs117402705217:79,620,264C/T—likely benign
rs77088457617:79,620,265C/A—uncertain significance
rs250980731817:79,620,280C/A—uncertain significance
rs76982505717:79,620,284C/T—uncertain significance
rs77542565017:79,620,285G/A—conflicting classifications of pathogenicity
rs250980733317:79,620,296T/C—uncertain significance
rs214440167317:79,620,297G/A—likely benign
rs134765408717:79,620,304C/T—uncertain significance
rs37741492617:79,620,305G/A—uncertain significance
rs128312349617:79,620,309C/G—uncertain significance
rs105668096917:79,620,315C/T—likely benign
rs250980736317:79,620,319G/A—uncertain significance
rs37081291617:79,620,321C/T—likely benign
rs76212572517:79,620,322G/A—uncertain significance
rs116578910417:79,620,329G/C—uncertain significance
rs76695195217:79,620,330G/T—uncertain significance
rs14578752217:79,620,335T/C—uncertain significance
rs77234861017:79,620,392G/C—uncertain significance
rs159872199117:79,623,555G/C—uncertain significance
rs76145675317:79,623,563T/C—uncertain significance
rs78148076817:79,623,576G/A—uncertain significance
rs5612593417:79,623,591T/C—likely benign
rs56269861117:79,628,479G/A——

Gene information from NCBI Gene. Variant classifications from ClinVar.