OSTM1

osteoclastogenesis associated transmembrane protein 1

Summary

This gene encodes a protein that may be involved in the degradation of G proteins via the ubiquitin-dependent proteasome pathway. The encoded protein binds to members of subfamily A of the regulator of the G-protein signaling (RGS) family through an N-terminal leucine-rich region. This protein also has a central RING finger-like domain and E3 ubiquitin ligase activity. This protein is highly conserved from flies to humans. Defects in this gene may cause the autosomal recessive, infantile malignant form of osteopetrosis. [provided by RefSeq, Jul 2008]

Known Variants289 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1124244956:108,362,660T/C—benign
rs1129198026:108,362,670A/C—benign
rs17718681206:108,362,709A/G—uncertain significance
rs5280195636:108,362,733T/C—uncertain significance
rs1859058696:108,362,797T/G—likely benign
rs5620031446:108,362,803A/G—uncertain significance
rs5638890526:108,362,929C/T—uncertain significance
rs3761543456:108,362,999A/G—uncertain significance
rs412875266:108,363,102C/T—benign
rs5346520176:108,363,131T/C—uncertain significance
rs7473055196:108,363,190T/C—uncertain significance
rs8860609596:108,363,216C/T—uncertain significance
rs9988489856:108,363,220C/A—uncertain significance
rs69213416:108,363,234T/C—benign
rs17718763966:108,363,282G/A—uncertain significance
rs1113329446:108,363,442C/T—benign
rs9810979016:108,363,502A/T—uncertain significance
rs8658915376:108,363,618C/T—uncertain significance
rs5648225486:108,363,623T/C—likely benign
rs606218156:108,363,625T/C—uncertain significance
rs2011493166:108,363,627T/C—uncertain significance
rs1132633356:108,363,645G/C—benign
rs1127927006:108,363,660C/A—benign
rs5272567476:108,363,672T/G—uncertain significance
rs93867006:108,363,688T/C—benign
rs1122832026:108,363,706A/G—benign
rs7780981566:108,363,712C/T—uncertain significance
rs5469763716:108,363,713G/A—uncertain significance
rs9244183766:108,363,794A/C—uncertain significance
rs1475176156:108,363,844T/A—uncertain significance
rs1153700446:108,363,851C/A—benign
rs170692156:108,363,936G/A—benign
rs5481191796:108,363,954T/C—uncertain significance
rs76626:108,364,106A/G—benign
rs12705734226:108,364,145A/C—uncertain significance
rs8860609646:108,364,355T/C—uncertain significance
rs412875286:108,364,415T/C—benign
rs8860609656:108,364,520C/T—uncertain significance
rs5282418656:108,364,534G/A—uncertain significance
rs1167964496:108,364,562T/C—benign
rs125676:108,364,582C/T—benign
rs8860609666:108,364,590A/T—uncertain significance
rs735044396:108,364,622C/T—benign
rs93721796:108,364,637T/C—benign
rs93740086:108,364,655A/G—benign
rs1455142556:108,364,784G/C—uncertain significance
rs5576677176:108,364,823T/C—uncertain significance
rs170692286:108,364,828C/T—benign
rs5432803036:108,364,904A/C—uncertain significance
rs1487308216:108,364,907C/T—benign
rs11750258286:108,364,944A/G—uncertain significance
rs10643466:108,364,951T/C—benign
rs8860609676:108,364,966T/C—uncertain significance
rs10532995386:108,364,982C/T—uncertain significance
rs8860609686:108,365,036G/A—uncertain significance
rs8860609696:108,365,116T/C—uncertain significance
rs7483651076:108,365,117A/G—uncertain significance
rs5289459676:108,365,154C/A—uncertain significance
rs7569787516:108,365,211A/C—uncertain significance
rs9254206316:108,365,238G/A—uncertain significance
rs3694185676:108,365,557A/C—uncertain significance
rs614912626:108,365,634T/C—benign
rs93202506:108,365,658T/C—benign
rs8860609706:108,365,698T/C—uncertain significance
rs17719319796:108,365,727G/C—uncertain significance
rs170692396:108,365,777T/C—benign
rs8860609716:108,365,812T/C—uncertain significance
rs5711936246:108,365,821A/C—uncertain significance
rs1173943346:108,365,842C/A—uncertain significance
rs11796555446:108,366,025A/C—uncertain significance
rs21145864966:108,366,028G/A—likely benign
rs2017938346:108,366,034G/C—likely benign
rs7794382026:108,366,038C/T—uncertain significance
rs24821534996:108,366,048G/C—likely benign
rs24821535016:108,366,050T/C—likely benign
rs8860609726:108,366,056A/G—conflicting classifications of pathogenicity
rs1404561326:108,366,060G/C—likely benign
rs7461760356:108,366,064T/A—likely benign
rs412875306:108,366,210C/G—benign
rs11940947266:108,370,442T/C—likely benign
rs3737965156:108,370,443T/C—likely benign
rs7593573866:108,370,445T/C—likely benign
rs15623700776:108,370,452C/T—pathogenic
rs17720339116:108,370,456C/G—uncertain significance
rs24821649616:108,370,459A/G—uncertain significance
rs24821649656:108,370,460G/A—likely benign
rs17720341626:108,370,467T/C—likely benign
rs1462893656:108,370,473T/C—conflicting classifications of pathogenicity
rs13988053126:108,370,474T/G—uncertain significance
rs12970299516:108,370,488G/A—likely benign
rs7802590476:108,370,490G/A—uncertain significance
rs7806938096:108,370,506G/A—likely benign
rs3694356386:108,370,512G/A—likely benign
rs1442861646:108,370,517C/T—uncertain significance
rs14221003526:108,370,531A/G—uncertain significance
rs1487504246:108,370,533G/A—likely benign
rs10435510386:108,370,541A/T—uncertain significance
rs24821653286:108,370,545A/G—likely benign
rs1452171136:108,370,577C/T—uncertain significance
rs1497982876:108,370,585T/C—uncertain significance

Showing 100 of 289 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.