SYNGAP1

synaptic Ras GTPase activating protein 1

Summary

This gene encodes a Ras GTPase activating protein that is a member of the N-methyl-D-aspartate receptor complex. The N-terminal domain of the protein contains a Ras-GAP domain, a pleckstrin homology domain, and a C2 domain that may be involved in binding of calcium and phospholipids. The C-terminal domain consists of a ten histidine repeat region, serine and tyrosine phosphorylation sites, and a T/SXV motif required for postsynaptic scaffold protein interaction. The encoded protein negatively regulates Ras, Rap and alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor trafficking to the postsynaptic membrane to regulate synaptic plasticity and neuronal homeostasis. Allelic variants of this gene are associated with intellectual disability and autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]

Known Variants1,170 total

rsidPosition (GRCh37)AllelesClassClinVar
rs96884156:33,387,599G/C—likely benign
rs1150749786:33,387,613C/A—likely benign
rs17767435056:33,388,041G/A—uncertain significance
rs12926092176:33,388,044G/A—conflicting classifications of pathogenicity
rs7679813136:33,388,046G/A—uncertain significance
rs21511214926:33,388,054C/T—uncertain significance
rs11674924836:33,388,069C/T—uncertain significance
rs8669820026:33,388,070G/C—uncertain significance
rs7499494306:33,388,074G/A—likely benign
rs13625872386:33,388,077C/G—uncertain significance
rs12991715636:33,388,084G/A—uncertain significance
rs25372608546:33,388,085C/T—uncertain significance
rs15543042626:33,388,086G/A—likely benign
rs17767454516:33,388,089G/A—uncertain significance
rs17767456156:33,388,092C/T—likely benign
rs13527240896:33,388,094A/G—uncertain significance
rs14112167356:33,388,098C/T—likely benign
rs15628674146:33,388,100C/G—uncertain significance
rs25372610826:33,388,109G/T—pathogenic
rs25372610886:33,388,111A/C—uncertain significance
rs11897466376:33,388,117T/G—likely benign
rs25372614696:33,388,121G/A—likely benign
rs25372615006:33,388,123G/A—likely benign
rs15819651376:33,388,124A/T—likely benign
rs12919042636:33,388,128G/T—likely benign
rs785254546:33,388,294G/A—likely benign
rs1163739676:33,390,977C/G—likely benign
rs17550426:33,391,175T/G—benign
rs765573626:33,391,178C/T—benign
rs3732144216:33,391,235G/T—likely benign
rs7479255186:33,391,239G/A—likely benign
rs25372830726:33,391,251C/T—uncertain significance
rs15628692076:33,391,253G/A—pathogenic
rs17768599336:33,391,259C/T—uncertain significance
rs7721885526:33,391,260G/A—uncertain significance
rs17768601456:33,391,261G/T—likely benign
rs15543046526:33,391,262G/A—benign
rs7731840026:33,391,264A/C—likely benign
rs17768606076:33,391,268T/C—uncertain significance
rs1423598916:33,391,270T/C—likely benign
rs12732502496:33,391,272T/C—uncertain significance
rs17768610126:33,391,274C/T—uncertain significance
rs15543046556:33,391,277C/T—pathogenic
rs7753724256:33,391,278G/A—uncertain significance
rs1479130006:33,391,288C/A—pathogenic
rs12403757486:33,391,292C/T—uncertain significance
rs7642597466:33,391,299C/T—conflicting classifications of pathogenicity
rs3708035446:33,391,300G/A—likely benign
rs25372836976:33,391,303T/G—pathogenic
rs7621424876:33,391,307C/T—conflicting classifications of pathogenicity
rs17768629336:33,391,313G/A—uncertain significance
rs10341717716:33,391,326G/A—likely benign
rs15543046806:33,391,341C/T—uncertain significance
rs15543046816:33,391,342G/A—likely benign
rs7521764496:33,391,349C/A—uncertain significance
rs7565214416:33,391,352C/T—likely benign
rs25372841706:33,391,355C/T—uncertain significance
rs25372841956:33,391,358A/G—uncertain significance
rs25372842486:33,391,361C/T—likely benign
rs15543046876:33,391,373G/C—uncertain significance
rs25372843656:33,391,376G/A—likely pathogenic
rs7786907386:33,391,393G/C—likely benign
rs1835706346:33,391,404G/A—benign
rs1148407476:33,393,427A/G—likely benign
rs1849528806:33,393,525G/A—benign
rs21511343816:33,393,559C/T—likely benign
rs12779796276:33,393,561C/T—likely benign
rs2016597726:33,393,563C/G—likely benign
rs14565941906:33,393,567T/C—likely benign
rs7534405176:33,393,568C/T—likely benign
rs17769415866:33,393,573A/G—pathogenic
rs17769417116:33,393,579A/G—uncertain significance
rs12470195006:33,393,580C/T—likely benign
rs17769419066:33,393,581C/G—uncertain significance
rs734023056:33,393,583C/G—likely benign
rs14097164686:33,393,584C/T—likely benign
rs17769422476:33,393,586A/G—likely benign
rs15541198196:33,393,608G/T—pathogenic
rs11824689916:33,393,612C/G—uncertain significance
rs1470491396:33,393,613C/T—likely benign
rs14291265746:33,393,629C/T—likely benign
rs15541198256:33,393,634A/T—uncertain significance
rs21511346096:33,393,635C/G—uncertain significance
rs14068609496:33,393,640A/G—likely benign
rs3748192416:33,393,641G/A—uncertain significance
rs25373001936:33,393,648T/C—uncertain significance
rs17769442366:33,393,650C/G—uncertain significance
rs15541198306:33,393,651C/T—uncertain significance
rs17769445176:33,393,654T/A—uncertain significance
rs15541198356:33,393,657A/G—likely benign
rs25373002976:33,393,658G/A—likely benign
rs17769448326:33,393,662C/G—uncertain significance
rs7736687726:33,393,665C/T—benign
rs17769452456:33,393,671G/A—uncertain significance
rs21511347436:33,393,676G/T—uncertain significance
rs17769454726:33,393,689G/C—likely benign
rs7522027706:33,393,719G/T—benign
rs5406749556:33,393,767G/T—likely benign
rs21511386106:33,395,231G/A—uncertain significance
rs93941456:33,399,778T/C—benign

Showing 100 of 1,170 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.