MDGA1

MAM domain containing glycosylphosphatidylinositol anchor 1

Summary

This gene encodes a glycosylphosphatidylinositol (GPI)-anchored cell surface glycoprotein that is expressed predominantly in the developing nervous system. In addition to possessing several cell adhesion molecule-like domains, the mature protein has six Ig-like domains, a single fibronectin type III domain, a MAM domain and a C-terminal GPI-anchoring site. Studies in other mammals suggest this protein plays a role in cell adhesion, migration, and axon guidance and, in the developing brain, neuronal migration. In humans, this gene is associated with bipolar disorder and schizophrenia. [provided by RefSeq, Oct 2016]

Known Variants74 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1112448466:37,599,995C/Tdownstream gene variant
rs412730926:37,605,010G/A
rs1848918286:37,605,157G/Auncertain significance
rs7660032556:37,605,211G/Auncertain significance
rs7644147306:37,605,223G/Auncertain significance
rs7807118726:37,605,997C/Auncertain significance
rs2014477686:37,606,004C/Tuncertain significance
rs747036326:37,606,036A/Gbenign
rs2011582016:37,606,063C/Abenign
rs3711039786:37,606,064G/Auncertain significance
rs8643094936:37,606,083A/Cuncertain significance
rs2017728486:37,606,331G/Alikely benign
rs12912258786:37,606,440G/Auncertain significance
rs7805764116:37,611,617G/Auncertain significance
rs12079735876:37,611,641G/Tuncertain significance
rs13205784076:37,611,651G/Cuncertain significance
rs7604884816:37,611,653G/Auncertain significance
rs3709108876:37,611,672G/Auncertain significance
rs7637986696:37,611,681G/Tuncertain significance
rs14266063136:37,611,714A/Guncertain significance
rs8643096306:37,612,339G/Auncertain significance
rs7728031846:37,612,425T/Cuncertain significance
rs1995988936:37,613,995G/Auncertain significance
rs7668788856:37,614,004T/Cuncertain significance
rs1921136596:37,614,044C/Gbenign
rs2005781776:37,614,125C/Auncertain significance
rs1931299326:37,616,033G/Tregulatory region variant
rs5350464336:37,616,328C/T
rs10056430736:37,616,808C/Auncertain significance
rs1429603586:37,616,846G/Csynonymous variant
rs7740326506:37,616,866C/Tuncertain significance
rs9506187086:37,616,907A/Guncertain significance
rs5607343906:37,616,937G/Auncertain significance
rs9388829336:37,616,992G/Auncertain significance
rs9133851566:37,617,010C/Tuncertain significance
rs3740889206:37,617,018G/Auncertain significance
rs8048156:37,617,892G/Abenign
rs7642092666:37,617,941C/Tuncertain significance
rs5286126296:37,617,979G/Tuncertain significance
rs17613334346:37,618,176G/Auncertain significance
rs1161925336:37,618,820A/Tintron variant
rs1998475846:37,619,815G/Cuncertain significance
rs12434524716:37,619,823C/Auncertain significance
rs12503451896:37,619,837C/Tuncertain significance
rs5640442656:37,619,952G/Auncertain significance
rs94623436:37,620,776G/Aintron variant
rs7586819776:37,622,256G/Auncertain significance
rs11748910376:37,622,274T/Cuncertain significance
rs3698407666:37,622,621C/Tuncertain significance
rs3701242846:37,623,480G/Auncertain significance
rs7796055806:37,623,519C/Tuncertain significance
rs7472084016:37,623,543C/Tuncertain significance
rs24819788736:37,623,544G/Auncertain significance
rs7651338516:37,623,564G/Auncertain significance
rs24819934486:37,626,110A/Guncertain significance
rs12404620316:37,626,162C/Auncertain significance
rs108071876:37,629,650G/A
rs132031406:37,630,133C/Tintron variant
rs18839016:37,631,031G/Aintron variant
rs5444534236:37,631,799G/Auncertain significance
rs7723668696:37,631,814G/Auncertain significance
rs24820206366:37,631,815C/Tlikely benign
rs1999957276:37,631,846G/Auncertain significance
rs7555563686:37,631,862C/Tuncertain significance
rs728474826:37,635,881G/Tintron variant
rs1419382526:37,636,220A/Gregulatory region variant
rs77693726:37,638,562C/Tintron variant
rs117591156:37,641,030T/Cintron variant
rs1813167096:37,643,791G/Cintron variant
rs1443810136:37,649,564G/Aintron variant
rs5578353206:37,650,874T/C
rs5764582156:37,651,584A/G
rs1872143156:37,654,973G/Aintron variant
rs5591787856:37,664,577G/Auncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.