C12orf57

chromosome 12 open reading frame 57

Summary

This gene is ubiquitously expressed in human tissues. It is required for development of the human corpus callosum. Mutations in this gene are associated with Temtamy syndrome (TEMTYS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]

Known Variants187 total

rsidPosition (GRCh37)AllelesClassClinVar
rs86897246012:7,052,826G/A—uncertain significance
rs7326286112:7,052,895G/A—likely benign
rs11430935812:7,052,908G/T—likely benign
rs14269958912:7,052,976C/T—likely benign
rs19170518012:7,053,044T/C—likely benign
rs14495319012:7,053,058C/T—likely benign
rs11279604412:7,053,059C/T—likely benign
rs308783512:7,053,085A/G—benign
rs7718122412:7,053,091A/G—likely benign
rs78246156912:7,053,094G/A—likely benign
rs7405722712:7,053,096T/C—benign
rs7405722812:7,053,098G/C—likely benign
rs11288586812:7,053,121G/A—benign
rs104418912:7,053,149A/C—benign
rs11436687512:7,053,215T/G—benign
rs18560140112:7,053,257C/T—likely benign
rs19996823012:7,053,258C/T—likely benign
rs37357388312:7,053,280G/A—uncertain significance
rs37707860712:7,053,281C/T—uncertain significance
rs11329639512:7,053,282C/T—conflicting classifications of pathogenicity
rs58777695412:7,053,285A/Gmissense variantpathogenic
rs78278498912:7,053,287G/A—pathogenic
rs37623349812:7,053,289C/T—uncertain significance
rs254266619312:7,053,290G/T—likely benign
rs36824185412:7,053,292C/T—uncertain significance
rs20054139612:7,053,293C/T—likely benign
rs36787609912:7,053,294G/A—uncertain significance
rs119438440212:7,053,295C/G—uncertain significance
rs74731328412:7,053,296C/T—likely benign
rs194572268012:7,053,297T/G—uncertain significance
rs14465206512:7,053,299G/T—likely benign
rs78258703612:7,053,301C/G—uncertain significance
rs77143673712:7,053,302C/G—likely benign
rs78250290312:7,053,303C/T—pathogenic
rs78260019612:7,053,304A/G—uncertain significance
rs78226640012:7,053,305A/G—likely benign
rs37225381212:7,053,307C/T—uncertain significance
rs78266057312:7,053,308G/A—likely benign
rs78236437112:7,053,310C/T—uncertain significance
rs78196702412:7,053,311G/A—likely benign
rs78207784612:7,053,312G/C—uncertain significance
rs140119729712:7,053,313C/T—uncertain significance
rs19964311012:7,053,314C/T—likely benign
rs78198333112:7,053,315T/A—uncertain significance
rs141724975812:7,053,316T/G—uncertain significance
rs78216821312:7,053,317G/C—uncertain significance
rs14848377912:7,053,319G/A—uncertain significance
rs78275020712:7,053,320C/T—likely benign
rs20124622012:7,053,321G/A—uncertain significance
rs155514584412:7,053,325A/G—uncertain significance
rs78251807312:7,053,326G/A—likely benign
rs156557419712:7,053,327C/T—pathogenic
rs131661524712:7,053,328A/G—uncertain significance
rs131549245412:7,053,329A/G—likely benign
rs78265104312:7,053,330G/A—uncertain significance
rs78244670012:7,053,332A/G—likely benign
rs78222632912:7,053,335G/A—likely benign
rs78233970212:7,053,336G/A—uncertain significance
rs78264004812:7,053,337G/T—likely pathogenic
rs144929602712:7,053,339G/A—uncertain significance
rs155514585512:7,053,343A/G—likely benign
rs213823415612:7,053,345C/T—likely benign
rs78254869212:7,053,346G/A—likely benign
rs78207041612:7,053,348C/T—likely benign
rs156557427612:7,053,349C/T—likely benign
rs135166709212:7,053,350T/C—likely benign
rs213823422712:7,053,351A/T—likely benign
rs37225112612:7,053,352G/C—likely benign
rs78197765112:7,053,353T/C—likely benign
rs37532000512:7,053,354C/G—likely benign
rs155514586012:7,053,355A/C—likely benign
rs91599712:7,053,362A/G—benign
rs155514597312:7,053,621G/C—likely benign
rs78261361212:7,053,624G/A—likely benign
rs78251085712:7,053,628C/T—likely benign
rs168535165712:7,053,629T/C—likely benign
rs142318427112:7,053,632C/A—likely benign
rs19171110112:7,053,636C/T—conflicting classifications of pathogenicity
rs111416729312:7,053,637A/G—pathogenic
rs37483640412:7,053,638G/A—likely pathogenic
rs156557473612:7,053,642T/C—uncertain significance
rs14274315512:7,053,647G/A—uncertain significance
rs14602480212:7,053,648C/T—uncertain significance
rs36926643112:7,053,649G/A—likely benign
rs78230892012:7,053,658C/G—uncertain significance
rs78193560912:7,053,662G/A—uncertain significance
rs78276322312:7,053,664G/C—likely benign
rs78182439212:7,053,667C/T—likely benign
rs13993880812:7,053,672C/T—conflicting classifications of pathogenicity
rs134941944212:7,053,674C/G—uncertain significance
rs78264636112:7,053,675C/G—uncertain significance
rs254266971412:7,053,676G/A—uncertain significance
rs79704542212:7,053,677G/C—uncertain significance
rs194574382812:7,053,679G/A—likely benign
rs37348127512:7,053,685A/G—likely benign
rs78245910812:7,053,691C/T—likely benign
rs155514601212:7,053,693T/C—uncertain significance
rs78223822912:7,053,695G/A—uncertain significance
rs78243205512:7,053,697C/T—likely benign
rs155514601512:7,053,701G/A—uncertain significance

Showing 100 of 187 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.