GNAS

GNAS complex locus

Summary

This locus has a highly complex imprinted expression pattern. It gives rise to maternally, paternally, and biallelically expressed transcripts that are derived from four alternative promoters and 5' exons. Some transcripts contain a differentially methylated region (DMR) at their 5' exons, and this DMR is commonly found in imprinted genes and correlates with transcript expression. An antisense transcript is produced from an overlapping locus on the opposite strand. One of the transcripts produced from this locus, and the antisense transcript, are paternally expressed noncoding RNAs, and may regulate imprinting in this region. In addition, one of the transcripts contains a second overlapping ORF, which encodes a structurally unrelated protein - Alex. Alternative splicing of downstream exons is also observed, which results in different forms of the stimulatory G-protein alpha subunit, a key element of the classical signal transduction pathway linking receptor-ligand interactions with the activation of adenylyl cyclase and a variety of cellular reponses. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene result in pseudohypoparathyroidism type 1a, pseudohypoparathyroidism type 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome, progressive osseus heteroplasia, polyostotic fibrous dysplasia of bone, and some pituitary tumors. [provided by RefSeq, Aug 2012]

Known Variants655 total

rsidPosition (GRCh37)AllelesClassClinVar
rs6155826020:57,414,867C/G—benign
rs180090020:57,415,110A/G—benign
rs208566062420:57,415,165G/A—uncertain significance
rs20213137020:57,415,168C/T—uncertain significance
rs14430840620:57,415,171A/G—uncertain significance
rs122531417620:57,415,184A/C—uncertain significance
rs127426930020:57,415,188G/A—likely benign
rs208566152420:57,415,195C/T—likely pathogenic
rs138921794920:57,415,205A/G—uncertain significance
rs251625526120:57,415,233A/G—uncertain significance
rs37017583720:57,415,287C/T—likely benign
rs127336470720:57,415,288C/T—uncertain significance
rs75671195320:57,415,367A/T—uncertain significance
rs56384460020:57,415,427A/G—conflicting classifications of pathogenicity
rs75961796020:57,415,447T/G—uncertain significance
rs180090220:57,415,455C/T—benign
rs123681812120:57,415,459T/C—uncertain significance
rs147320504820:57,415,464A/G—likely benign
rs75245240920:57,415,465G/C—uncertain significance
rs37327601120:57,415,470C/T—likely benign
rs20130744520:57,415,495G/C—uncertain significance
rs214547150920:57,415,517T/G—uncertain significance
rs77014044720:57,415,523C/T—uncertain significance
rs19953464520:57,415,525G/A—likely benign
rs93644838820:57,415,527G/C—uncertain significance
rs113169190720:57,415,528A/G—uncertain significance
rs77192196820:57,415,530C/A—likely benign
rs20025628520:57,415,536C/T—likely benign
rs14354922520:57,415,559C/T—uncertain significance
rs77940197320:57,415,570C/T—uncertain significance
rs214547186520:57,415,571C/T—uncertain significance
rs20143879820:57,415,573G/A—uncertain significance
rs14804469920:57,415,578C/A—likely benign
rs7740031920:57,415,602G/A—likely benign
rs20223768820:57,415,614G/A—likely benign
rs75103089920:57,415,666C/T—uncertain significance
rs76808205820:57,415,667G/A—uncertain significance
rs89854424220:57,415,672C/T—uncertain significance
rs37615415220:57,415,675G/A—uncertain significance
rs75650390320:57,415,692C/G—likely benign
rs74956955920:57,415,697C/T—uncertain significance
rs18159453420:57,415,698G/A—likely benign
rs77286935920:57,415,731A/G—likely benign
rs138503195220:57,415,750G/A—uncertain significance
rs37105500120:57,415,753G/A—likely benign
rs251626044320:57,415,772C/T—uncertain significance
rs76460800620:57,415,774G/A—uncertain significance
rs251626048920:57,415,777G/C—uncertain significance
rs142893851120:57,415,782G/A—likely benign
rs156890867920:57,415,792A/G—uncertain significance
rs74598225920:57,415,800G/A—likely benign
rs75851461920:57,415,803G/T—uncertain significance
rs7517643220:57,415,812T/A—benign
rs7970964120:57,415,841G/Amissense variant—
rs117713697220:57,415,846G/C—uncertain significance
rs145575649820:57,415,850C/T—uncertain significance
rs251626118720:57,415,854G/A—likely benign
rs76132791920:57,415,862C/T—uncertain significance
rs76462814820:57,415,874G/T—uncertain significance
rs7952754320:57,415,876C/A—benign
rs11232242320:57,415,881C/G—uncertain significance
rs8014127420:57,415,890G/A—likely benign
rs180090420:57,415,962T/C—benign
rs4130579920:57,415,967G/A—likely benign
rs180090520:57,415,995A/G—benign
rs55017296720:57,425,865G/A—benign
rs57746514020:57,425,941C/T—benign
rs7933535320:57,428,215T/G—benign
rs75177957920:57,428,251T/C—likely benign
rs54418231720:57,428,263G/A—likely benign
rs208625628920:57,428,326C/T—likely benign
rs54530639420:57,428,331G/A—likely benign
rs251635975520:57,428,337G/A—uncertain significance
rs145272812720:57,428,368C/G—likely benign
rs77186335320:57,428,398C/A—likely benign
rs74654857720:57,428,418C/A—uncertain significance
rs208626216720:57,428,431T/C—likely benign
rs52748810320:57,428,474G/A—conflicting classifications of pathogenicity
rs76325749420:57,428,478C/G—uncertain significance
rs251636215420:57,428,488C/T—likely benign
rs58777839020:57,428,501G/A—not provided
rs75714409920:57,428,504G/A—uncertain significance
rs75026453320:57,428,515C/T—uncertain significance
rs20092435720:57,428,516G/A—likely benign
rs77996387620:57,428,520C/T—uncertain significance
rs128154174420:57,428,527A/G—uncertain significance
rs208626991920:57,428,554T/C—uncertain significance
rs74763663420:57,428,573T/C—uncertain significance
rs37770656320:57,428,585G/A—uncertain significance
rs37031923520:57,428,605C/T—uncertain significance
rs53183524320:57,428,606C/G—uncertain significance
rs58777838620:57,428,631T/G—not provided
rs208627479120:57,428,646C/A—uncertain significance
rs138543956420:57,428,658G/C—uncertain significance
rs37470863620:57,428,675G/C—uncertain significance
rs74985530920:57,428,717G/C—uncertain significance
rs251636623420:57,428,736T/C—uncertain significance
rs94298079620:57,428,742C/G—uncertain significance
rs208628217220:57,428,775G/A—uncertain significance
rs113540177720:57,428,795G/A—conflicting classifications of pathogenicity

Showing 100 of 655 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.