ADGRG1

adhesion G protein-coupled receptor G1

Summary

This gene encodes a member of the G protein-coupled receptor family and regulates brain cortical patterning. The encoded protein binds specifically to transglutaminase 2, a component of tissue and tumor stroma implicated as an inhibitor of tumor progression. Mutations in this gene are associated with a brain malformation known as bilateral frontoparietal polymicrogyria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

Known Variants771 total

rsidPosition (GRCh37)AllelesClassClinVar
rs54977039216:57,653,975C/A—likely benign
rs121387798816:57,653,989G/A—uncertain significance
rs134386635616:57,654,005G/A—uncertain significance
rs155552845816:57,654,047A/G—likely benign
rs159685717816:57,654,056A/T—likely benign
rs125115921016:57,654,057C/T—uncertain significance
rs2836478216:57,662,632C/G—likely benign
rs7665234116:57,662,767A/T—benign
rs227880716:57,662,791T/A—benign
rs79633586116:57,662,816G/A—benign
rs79697921616:57,662,827A/T—benign
rs20165207216:57,662,837T/A—likely benign
rs87957415516:57,662,861T/C—benign
rs79688310716:57,662,865A/T—likely benign
rs499302216:57,662,933C/A—benign
rs718790216:57,673,122T/C—benign
rs55736727716:57,673,290G/A—likely benign
rs204017527316:57,673,301C/T—likely benign
rs376006116:57,673,460G/A—benign
rs197562916:57,673,742C/G—benign
rs197563016:57,673,762A/G—benign
rs1046828816:57,675,438T/C—benign
rs131449634316:57,675,508C/T—uncertain significance
rs58778095216:57,675,519A/C—benign
rs15101044416:57,675,570C/T—likely benign
rs57301052816:57,675,575T/C—uncertain significance
rs155553807316:57,675,615T/C—likely benign
rs77114808416:57,675,636C/A—likely benign
rs718437416:57,675,753G/A—benign
rs20064665816:57,678,570A/C——
rs992304116:57,682,511A/Gintron variant—
rs7816819816:57,683,888A/C—likely benign
rs7279351016:57,683,897C/G—benign
rs11123869316:57,683,983C/T—likely benign
rs11277597916:57,684,189G/A—conflicting classifications of pathogenicity
rs78620477716:57,684,209C/Tstop gainedpathogenic
rs14787922416:57,684,213C/A—pathogenic
rs76613509916:57,684,214G/A—likely benign
rs254506698716:57,684,223G/A—likely benign
rs20024187316:57,684,225C/T—conflicting classifications of pathogenicity
rs14222345116:57,684,226G/A—conflicting classifications of pathogenicity
rs116543809616:57,684,230C/T—likely benign
rs214818368416:57,684,232G/C—likely benign
rs204372304816:57,684,235C/T—likely benign
rs141703316716:57,684,240T/C—uncertain significance
rs156774670216:57,684,241G/A—likely benign
rs254506772716:57,684,245C/T—likely benign
rs75278301116:57,684,250C/T—likely benign
rs141849691716:57,684,256G/C—likely benign
rs204372903016:57,684,268G/A—uncertain significance
rs254506862016:57,684,272T/C—likely benign
rs214818511616:57,684,273C/A—likely benign
rs128679131016:57,684,274C/T—likely benign
rs20030327216:57,684,278G/T—conflicting classifications of pathogenicity
rs37477561716:57,684,279G/A—likely benign
rs94422761616:57,684,280G/A—likely benign
rs13935983716:57,684,304G/A—likely benign
rs19246005116:57,684,862C/T—likely benign
rs18397247316:57,684,863G/A—likely benign
rs254509886816:57,685,094C/T—likely benign
rs254509897516:57,685,097C/T—likely benign
rs36988773516:57,685,113T/G—likely benign
rs37618093416:57,685,119C/T—likely benign
rs254510006816:57,685,125G/A—likely benign
rs14566822416:57,685,134G/A—conflicting classifications of pathogenicity
rs214822727016:57,685,143T/C—likely benign
rs77648048316:57,685,144C/T—conflicting classifications of pathogenicity
rs75935383516:57,685,145G/A—uncertain significance
rs254510115416:57,685,152C/A—pathogenic
rs214822773616:57,685,155C/T—likely benign
rs77533109816:57,685,158G/A—likely benign
rs12190846216:57,685,159C/Tmissense variantpathogenic
rs76436718516:57,685,160G/A—pathogenic
rs99419733516:57,685,161G/C—likely benign
rs76192234916:57,685,170A/G—likely benign
rs1259990616:57,685,179C/T—benign
rs254510250216:57,685,183C/T—uncertain significance
rs204402173416:57,685,192A/G—conflicting classifications of pathogenicity
rs254510299816:57,685,193A/T—uncertain significance
rs214822974716:57,685,200A/C—likely benign
rs75422324816:57,685,201C/T—likely benign
rs75804093816:57,685,204G/C—uncertain significance
rs204402395616:57,685,206C/T—likely benign
rs14356161916:57,685,209G/A—likely benign
rs14096317316:57,685,221C/T—likely benign
rs20084654116:57,685,230C/T—conflicting classifications of pathogenicity
rs36991894716:57,685,231G/A—uncertain significance
rs254510491316:57,685,236G/A—likely benign
rs19987008216:57,685,238C/T—uncertain significance
rs254510522516:57,685,242C/G—likely benign
rs76132955616:57,685,244C/T—uncertain significance
rs74880059916:57,685,245A/G—likely benign
rs79472763816:57,685,252G/T—uncertain significance
rs75416270616:57,685,253C/T—uncertain significance
rs254510598216:57,685,254C/T—likely benign
rs204404303116:57,685,256C/T—pathogenic
rs254510619116:57,685,260C/T—likely benign
rs14456171516:57,685,261C/T—conflicting classifications of pathogenicity
rs125065867216:57,685,262C/T—likely benign
rs254510655416:57,685,265C/A—conflicting classifications of pathogenicity

Showing 100 of 771 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.