MEF2C

myocyte enhancer factor 2C

Summary

This locus encodes a member of the MADS box transcription enhancer factor 2 (MEF2) family of proteins, which play a role in myogenesis. The encoded protein, MEF2 polypeptide C, has both trans-activating and DNA binding activities. This protein may play a role in maintaining the differentiated state of muscle cells. Mutations and deletions at this locus have been associated with severe cognitive disability, stereotypic movements, epilepsy, and cerebral malformation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2010]

Known Variants423 total

rsidPosition (GRCh37)AllelesClassClinVar
rs5544410065:87,776,690T/G—likely benign
rs8860608545:88,015,034T/A—uncertain significance
rs5633462855:88,015,375C/T—likely benign
rs8860608555:88,015,376G/A—uncertain significance
rs343175:88,016,008A/C——
rs2000875745:88,018,405G/C—benign
rs12278046815:88,018,423A/T—likely pathogenic
rs13537608295:88,018,427T/C—likely benign
rs15616417735:88,018,428G/T—uncertain significance
rs25467170255:88,018,430C/T—uncertain significance
rs25467171515:88,018,431C/T—likely pathogenic
rs6071595:88,018,440G/A—uncertain significance
rs12919204825:88,018,442A/C—likely benign
rs21520410985:88,018,445T/C—likely benign
rs25467183845:88,018,447G/T—likely benign
rs15540985115:88,018,451G/A—likely benign
rs11943002565:88,018,458A/G—benign
rs21520414105:88,018,460T/A—likely benign
rs21520414545:88,018,461G/T—uncertain significance
rs12440839305:88,018,463G/A—likely benign
rs21520415935:88,018,466A/G—likely benign
rs15540985205:88,018,468T/C—likely benign
rs13859988875:88,018,475T/G—uncertain significance
rs25467200245:88,018,477C/A—uncertain significance
rs2016840505:88,018,483G/T—uncertain significance
rs12247090055:88,018,484C/A—likely benign
rs13825909515:88,018,489G/T—likely benign
rs25467216215:88,018,490T/C—likely benign
rs10279557855:88,018,502A/G—likely benign
rs7531561535:88,018,503A/G—conflicting classifications of pathogenicity
rs17567533745:88,018,504T/C—uncertain significance
rs21520426475:88,018,506G/C—uncertain significance
rs3764398155:88,018,511G/A—conflicting classifications of pathogenicity
rs15540985675:88,018,512T/G—benign
rs13609946405:88,018,524C/T—uncertain significance
rs7784886535:88,018,537G/T—likely benign
rs10091267605:88,018,541G/A—likely benign
rs13456664525:88,018,542C/T—uncertain significance
rs7712410265:88,018,544C/T—likely benign
rs7568393135:88,018,547G/A—likely benign
rs7809250175:88,018,550G/C—likely benign
rs7455345245:88,018,553C/G—likely benign
rs25467262345:88,018,585G/A—uncertain significance
rs7685704975:88,018,596G/A—uncertain significance
rs25467273795:88,018,604G/T—likely benign
rs21520445365:88,018,607C/T—likely benign
rs7710342075:88,018,608G/A—conflicting classifications of pathogenicity
rs25467277955:88,018,610G/A—likely benign
rs25467279765:88,018,617G/T—uncertain significance
rs7596558355:88,018,625C/T—likely benign
rs17568129095:88,018,632G/T—uncertain significance
rs7530022905:88,018,636T/C—conflicting classifications of pathogenicity
rs343810045:88,018,640A/G—likely benign
rs21520452435:88,018,641C/T—uncertain significance
rs10647970575:88,018,642G/Amissense variantpathogenic
rs25467314105:88,018,704A/T—uncertain significance
rs17568290185:88,018,705G/T—uncertain significance
rs7646365245:88,018,708T/G—uncertain significance
rs17568379595:88,018,715C/G—uncertain significance
rs21520463935:88,018,724A/G—likely benign
rs25467332975:88,018,745G/A—uncertain significance
rs14197429655:88,018,762C/T—likely benign
rs1444450465:88,018,996G/A—likely benign
rs37296695:88,024,165A/G—likely benign
rs455969315:88,024,199A/G—likely benign
rs13441316235:88,024,292A/G—likely benign
rs12261398635:88,024,293A/G—likely benign
rs17599088435:88,024,304G/C—benign
rs7798212485:88,024,307T/C—uncertain significance
rs15813213625:88,024,315C/G—likely pathogenic
rs21522072445:88,024,323G/A—benign
rs10575211695:88,024,324G/T—likely benign
rs14810078365:88,024,326C/A—uncertain significance
rs13553434725:88,024,335G/T—uncertain significance
rs25469458785:88,024,338T/C—uncertain significance
rs25469463615:88,024,354C/T—likely benign
rs9703072565:88,024,357T/C—likely benign
rs14265096565:88,024,369T/G—likely benign
rs25469468185:88,024,372T/A—likely benign
rs7489803545:88,024,373G/A—uncertain significance
rs9803413515:88,024,380G/A—likely benign
rs7960527275:88,024,381G/C—conflicting classifications of pathogenicity
rs7970457035:88,024,389C/T—conflicting classifications of pathogenicity
rs7567994345:88,024,390G/A—likely benign
rs15813232655:88,024,393G/A—likely benign
rs7787833165:88,024,395C/T—conflicting classifications of pathogenicity
rs14049435675:88,024,396G/A—likely benign
rs25469482415:88,024,399G/A—likely benign
rs10531270055:88,024,405C/G—likely benign
rs21522088285:88,024,408A/G—likely benign
rs2008874245:88,024,416A/G—conflicting classifications of pathogenicity
rs25469492535:88,024,418G/A—uncertain significance
rs25469493965:88,024,420C/A—likely benign
rs7481069245:88,024,422G/A—likely benign
rs7960527265:88,024,430C/G—conflicting classifications of pathogenicity
rs25469507375:88,024,443A/T—likely benign
rs17599687055:88,024,447T/C—pathogenic
rs21522094155:88,024,451T/G—likely benign
rs17599727845:88,024,455A/C—likely benign
rs10436087825:88,024,456G/T—uncertain significance

Showing 100 of 423 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.