MMAA

metabolism of cobalamin associated A

Summary

The protein encoded by this gene is involved in the translocation of cobalamin into the mitochondrion, where it is used in the final steps of adenosylcobalamin synthesis. Adenosylcobalamin is a coenzyme required for the activity of methylmalonyl-CoA mutase. Defects in this gene are a cause of methylmalonic aciduria. [provided by RefSeq, Jul 2008]

Known Variants452 total

rsidPosition (GRCh37)AllelesClassClinVar
rs9924910914:146,540,554G/C—conflicting classifications of pathogenicity
rs8860590864:146,540,556G/T—uncertain significance
rs8860590874:146,540,557C/T—uncertain significance
rs5467750434:146,540,569G/C—uncertain significance
rs1405929954:146,540,595G/C—likely benign
rs1146994964:146,540,611C/T—benign
rs10352017154:146,548,474G/A—uncertain significance
rs800264204:146,559,978A/C—benign
rs48350114:146,560,236A/G—benign
rs1502598044:146,560,257A/T—benign
rs1389477264:146,560,278C/T—conflicting classifications of pathogenicity
rs3741091184:146,560,288G/A—conflicting classifications of pathogenicity
rs15539578564:146,560,292A/G—likely pathogenic
rs25463352204:146,560,297C/T—likely benign
rs5273407374:146,560,298A/G—uncertain significance
rs7559145864:146,560,306A/G—likely benign
rs9213137774:146,560,312T/C—likely benign
rs3709836764:146,560,324T/C—likely benign
rs16613859494:146,560,327C/T—likely benign
rs17277054564:146,560,330A/C—likely benign
rs25463352844:146,560,337C/A—uncertain significance
rs7752242464:146,560,341T/A—likely pathogenic
rs25463353054:146,560,345A/G—likely benign
rs1432113784:146,560,348A/G—likely benign
rs7657994724:146,560,355C/Tstop gainedpathogenic
rs3756826034:146,560,356G/T—uncertain significance
rs8890487114:146,560,358T/C—uncertain significance
rs15539578834:146,560,363C/A—pathogenic
rs11602709104:146,560,366C/G—uncertain significance
rs21266170654:146,560,369C/T—likely benign
rs21266170764:146,560,372C/T—likely benign
rs3678097494:146,560,377A/G—uncertain significance
rs1421262094:146,560,383G/A—uncertain significance
rs25463353764:146,560,387T/A—likely benign
rs21266170894:146,560,390T/C—likely benign
rs1463729224:146,560,393C/T—conflicting classifications of pathogenicity
rs21266171134:146,560,408A/G—likely benign
rs7583458184:146,560,415C/T—pathogenic
rs8860590884:146,560,419C/T—uncertain significance
rs7797796644:146,560,420G/A—likely benign
rs347022244:146,560,429T/C—benign
rs12731109774:146,560,435A/G—likely benign
rs21266171814:146,560,441T/C—likely benign
rs17277113634:146,560,447A/G—likely benign
rs11913886694:146,560,450G/A—likely benign
rs8643097254:146,560,452G/Astop gainedpathogenic
rs21266172124:146,560,457C/T—likely benign
rs13964715714:146,560,459G/A—likely benign
rs15788775574:146,560,460C/T—likely benign
rs3717798004:146,560,466G/C—uncertain significance
rs17277130754:146,560,468T/C—likely benign
rs14173626124:146,560,476A/G—uncertain significance
rs17277134354:146,560,477G/A—likely benign
rs15788775864:146,560,486A/G—likely benign
rs25463355934:146,560,489T/C—likely benign
rs25463355984:146,560,492A/G—likely benign
rs7548942574:146,560,493C/T—pathogenic
rs17277141174:146,560,495A/G—likely benign
rs13282082454:146,560,499A/C—uncertain significance
rs15788776264:146,560,513C/T—likely benign
rs21266173224:146,560,531T/C—likely benign
rs7502301224:146,560,537G/A—likely benign
rs17277165524:146,560,538C/A—uncertain significance
rs21266173584:146,560,546T/C—likely benign
rs12401083374:146,560,549G/A—likely benign
rs25463357014:146,560,555A/G—likely benign
rs8643097264:146,560,557T/Cmissense variantpathogenic
rs1484040054:146,560,560A/T—conflicting classifications of pathogenicity
rs1048938464:146,560,574C/Tstop gainedpathogenic
rs13955820074:146,560,575A/G—uncertain significance
rs5592791474:146,560,579G/A—likely benign
rs15539579154:146,560,586G/A—uncertain significance
rs25463357684:146,560,593T/G—likely pathogenic
rs25463357724:146,560,594A/G—likely benign
rs13285846804:146,560,595G/A—conflicting classifications of pathogenicity
rs25463357804:146,560,598G/A—uncertain significance
rs12841341174:146,560,604A/G—uncertain significance
rs25463357894:146,560,605T/C—uncertain significance
rs25463358134:146,560,616G/T—pathogenic
rs25463358224:146,560,624T/C—likely benign
rs8860438384:146,560,625C/T—uncertain significance
rs21266174694:146,560,626A/G—uncertain significance
rs7713884154:146,560,627C/T—likely benign
rs7747905734:146,560,633G/A—likely benign
rs7596421264:146,560,637A/C—uncertain significance
rs7720826904:146,560,638A/G—uncertain significance
rs3694247964:146,560,645A/G—likely benign
rs25463358504:146,560,648C/T—likely benign
rs8643097274:146,560,649C/Tstop gainedpathogenic
rs25463358594:146,560,653T/C—uncertain significance
rs21266175174:146,560,654G/C—likely benign
rs7608750064:146,560,656T/C—pathogenic
rs9658270404:146,560,658C/T—uncertain significance
rs14186387494:146,560,660T/G—likely benign
rs7960645144:146,560,661C/T—not provided
rs17277226844:146,560,664A/G—uncertain significance
rs1840693674:146,560,666A/G—likely benign
rs7502370654:146,560,669A/G—likely benign
rs5601880024:146,560,674T/C—uncertain significance
rs25463358864:146,560,675T/C—likely benign

Showing 100 of 452 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.