MCPH1

microcephalin 1

Summary

This gene encodes a DNA damage response protein. The encoded protein may play a role in G2/M checkpoint arrest via maintenance of inhibitory phosphorylation of cyclin-dependent kinase 1. Mutations in this gene have been associated with primary autosomal recessive microcephaly 1 and premature chromosome condensation syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]

Known Variants872 total

rsidPosition (GRCh37)AllelesClassClinVar
rs22436748:6,263,807T/C—benign
rs22436758:6,263,816G/C—benign
rs413022128:6,263,840C/G—likely benign
rs5763921828:6,263,885C/G—likely benign
rs29166568:6,263,912A/T—benign
rs22437558:6,263,939T/C—benign
rs22437568:6,263,947G/C—benign
rs30202448:6,263,953G/C—benign
rs1151409898:6,264,015C/T—likely benign
rs1161719068:6,264,016G/C—likely benign
rs1873951208:6,264,038T/G—likely benign
rs1402790258:6,264,043C/T—likely benign
rs29166558:6,264,073G/T—benign
rs1906926838:6,264,108C/T—likely benign
rs23050238:6,264,130C/G—benign
rs7692605808:6,264,148A/C—uncertain significance
rs7681881638:6,264,150G/A—uncertain significance
rs7739150608:6,264,179G/C—uncertain significance
rs3751719078:6,264,181C/T—likely benign
rs7712779208:6,264,184C/G—likely benign
rs7594882108:6,264,193C/T—uncertain significance
rs12149187458:6,264,194G/A—likely benign
rs21295502828:6,264,195G/T—uncertain significance
rs7627894018:6,264,197C/T—likely benign
rs7572477468:6,264,203C/T—likely benign
rs7809400628:6,264,206G/C—likely benign
rs7499972448:6,264,210G/A—uncertain significance
rs24860359318:6,264,212T/C—likely pathogenic
rs24860360858:6,264,218A/G—likely benign
rs17977404428:6,264,220T/C—likely benign
rs7799189398:6,264,222C/T—likely benign
rs7489358878:6,264,223C/T—likely benign
rs7683662548:6,264,228G/A—likely benign
rs13588156908:6,264,229C/T—likely benign
rs1400260838:6,264,265C/G—likely benign
rs1487844858:6,266,567G/C—likely benign
rs1125034948:6,266,641C/G—benign
rs15506988:6,266,693C/T—benign
rs15506978:6,266,774G/A—benign
rs14404386208:6,266,780T/C—likely benign
rs1463518898:6,266,785A/G—likely benign
rs5780643078:6,266,788T/C—benign
rs3697496968:6,266,789C/G—likely benign
rs15544732388:6,266,791T/G—uncertain significance
rs11644499778:6,266,792G/C—likely benign
rs17982031528:6,266,796T/C—likely benign
rs12690680718:6,266,799G/C—likely pathogenic
rs7649835688:6,266,804A/G—likely benign
rs17982055348:6,266,810C/G—likely benign
rs12463432488:6,266,813T/C—likely benign
rs21295507608:6,266,817G/A—likely pathogenic
rs7461878618:6,266,822G/T—likely benign
rs24860766508:6,266,831C/G—likely benign
rs5371157828:6,266,838A/G—uncertain significance
rs7746926588:6,266,841G/A—likely pathogenic
rs7722716078:6,266,849T/C—likely benign
rs1214343058:6,266,851C/Gstop gainedpathogenic
rs7604993748:6,266,852A/G—likely benign
rs1994221248:6,266,857C/Gmissense variantnot provided
rs17982121648:6,266,858A/C—likely benign
rs24860773958:6,266,864A/C—likely benign
rs1396787878:6,266,867A/G—conflicting classifications of pathogenicity
rs21295507748:6,266,876G/A—likely benign
rs12010709968:6,266,880A/G—uncertain significance
rs24860780298:6,266,888A/C—likely benign
rs7788637748:6,266,896G/A—uncertain significance
rs3773206628:6,266,897A/G—uncertain significance
rs13151421568:6,266,898C/T—likely benign
rs5429624088:6,266,899A/G—likely benign
rs7781208508:6,266,900C/G—likely benign
rs7468430498:6,266,901T/C—likely benign
rs3706733528:6,266,903A/G—likely benign
rs7767719428:6,266,904T/C—likely benign
rs7697269028:6,266,909C/A—likely benign
rs12340751928:6,266,911G/T—likely benign
rs15506968:6,266,957A/G—benign
rs1141020798:6,267,078T/C—likely benign
rs170767738:6,272,138T/C—benign
rs24425468:6,272,156A/G—benign
rs24404378:6,272,185G/T—benign
rs765538758:6,272,230A/G—likely benign
rs7754783308:6,272,271G/A—likely benign
rs2003466528:6,272,272C/T—conflicting classifications of pathogenicity
rs14321271618:6,272,273A/G—likely benign
rs3687125508:6,272,280C/G—conflicting classifications of pathogenicity
rs9011778918:6,272,281T/C—likely benign
rs24861399848:6,272,282A/G—likely benign
rs24861400268:6,272,284A/G—likely pathogenic
rs13450288358:6,272,290C/G—pathogenic
rs14587143868:6,272,291A/G—likely benign
rs5462361528:6,272,293A/G—uncertain significance
rs5877837338:6,272,299T/Cmissense variantpathogenic
rs3743635688:6,272,306A/C—uncertain significance
rs24861406788:6,272,312A/T—likely benign
rs7457022058:6,272,314C/T—likely pathogenic
rs3720883308:6,272,316C/G—uncertain significance
rs17990259688:6,272,317A/G—uncertain significance
rs14880847878:6,272,318C/G—pathogenic
rs7799240778:6,272,319G/A—uncertain significance
rs5662429318:6,272,320T/G—uncertain significance

Showing 100 of 872 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.