MMAB

metabolism of cobalamin associated B

Summary

This gene encodes a protein that catalyzes the final step in the conversion of vitamin B(12) into adenosylcobalamin (AdoCbl), a vitamin B12-containing coenzyme for methylmalonyl-CoA mutase. Mutations in the gene are the cause of vitamin B12-dependent methylmalonic aciduria linked to the cblB complementation group. Alternatively spliced transcript variants have been found. [provided by RefSeq, Apr 2011]

Known Variants417 total

rsidPosition (GRCh37)AllelesClassClinVar
rs77793988512:109,991,537C/T—uncertain significance
rs14443051312:109,991,538G/A—uncertain significance
rs77680484712:109,991,568T/C—uncertain significance
rs188387195412:109,991,573C/T—uncertain significance
rs7341407112:109,991,655G/T—benign
rs88604891512:109,991,681T/A—uncertain significance
rs1106722712:109,991,685C/T—benign
rs74716675612:109,991,691C/T—uncertain significance
rs18660232112:109,991,759G/A—uncertain significance
rs77153006512:109,991,790A/C—uncertain significance
rs188387972912:109,991,806A/G—uncertain significance
rs7806525412:109,991,814T/C—uncertain significance
rs76689493512:109,991,883G/A—uncertain significance
rs75997140612:109,991,919C/T—uncertain significance
rs90138786912:109,991,920G/A—uncertain significance
rs100557339812:109,991,943G/A—uncertain significance
rs1281768912:109,991,998A/G—benign
rs101233883012:109,992,050C/T—uncertain significance
rs13988683212:109,992,093C/T—uncertain significance
rs75955099312:109,992,094G/A—uncertain significance
rs74716313712:109,992,097C/G—uncertain significance
rs224120112:109,992,132C/G—benign
rs3514554612:109,992,149C/G—benign
rs54632775112:109,992,154C/G—uncertain significance
rs74894943412:109,992,197T/C—uncertain significance
rs7341407412:109,992,205G/A—benign
rs77852812812:109,992,214T/A—uncertain significance
rs88604891612:109,992,330C/T—uncertain significance
rs188390027212:109,992,441G/A—uncertain significance
rs7265017612:109,992,491C/T—uncertain significance
rs121068175112:109,992,507G/C—uncertain significance
rs14764746512:109,992,647A/G—likely benign
rs78147318512:109,992,683T/C—uncertain significance
rs54562341212:109,992,780G/A—uncertain significance
rs77526327312:109,992,782G/A—uncertain significance
rs54688539712:109,992,810G/A—uncertain significance
rs18335430012:109,992,845G/A—uncertain significance
rs6194046312:109,992,881A/G—benign
rs7341407612:109,993,023C/T—benign
rs88604891712:109,993,086T/C—uncertain significance
rs55916390112:109,993,104T/G—benign
rs88609388012:109,993,144G/A—uncertain significance
rs11701177112:109,993,148C/T—uncertain significance
rs57283276612:109,993,150C/T—uncertain significance
rs11186921812:109,993,176C/T—benign
rs3492135512:109,993,298C/T—benign
rs57673810812:109,993,351G/A—uncertain significance
rs106144012:109,993,366G/A—benign
rs75732539812:109,993,405G/A—uncertain significance
rs7265017712:109,993,424C/T—likely benign
rs188394698612:109,993,433C/T—uncertain significance
rs1106723112:109,993,603C/A—benign
rs56204698812:109,993,712G/A—uncertain significance
rs14248669712:109,993,745T/A—uncertain significance
rs14329290012:109,993,766G/A—uncertain significance
rs6743228312:109,993,828T/C—benign
rs54144766112:109,993,872C/T—uncertain significance
rs87770912:109,993,942G/T—benign
rs87771012:109,993,976C/G3 prime UTR variantbenign
rs77672487212:109,994,018A/G—uncertain significance
rs1183122612:109,994,112A/C—benign
rs88604892112:109,994,117G/A—uncertain significance
rs53870279112:109,994,123G/A—uncertain significance
rs88604892212:109,994,142T/G—uncertain significance
rs1106723212:109,994,177G/T—benign
rs1106723312:109,994,208C/G—benign
rs121490492612:109,994,245G/A—uncertain significance
rs5676024012:109,994,269C/G—benign
rs56242093312:109,994,279C/T—uncertain significance
rs88604892312:109,994,324G/A—uncertain significance
rs76633928912:109,994,330C/T—uncertain significance
rs55146162412:109,994,409C/T—uncertain significance
rs188397915512:109,994,411A/G—uncertain significance
rs14828939012:109,994,429A/C—likely benign
rs7496759612:109,994,453T/A—benign
rs6649731912:109,994,455A/T—benign
rs52786137112:109,994,457A/T—benign
rs54960141612:109,994,459A/T—benign
rs77328414812:109,994,465A/T—likely benign
rs188398757312:109,994,485A/C—uncertain significance
rs74537325712:109,994,498C/T—uncertain significance
rs105396097012:109,994,532G/A—uncertain significance
rs822812:109,994,641A/G—benign
rs37701583612:109,994,851G/A—likely benign
rs18686480212:109,994,854C/T—conflicting classifications of pathogenicity
rs76213802612:109,994,855G/A—uncertain significance
rs75002860912:109,994,857T/C—likely benign
rs959312:109,994,870A/Tmissense variantbenign
rs254860066712:109,994,881C/T—likely benign
rs14488044812:109,994,883C/T—uncertain significance
rs254860067512:109,994,884T/C—likely benign
rs36929661812:109,994,886G/Astop gainedpathogenic
rs143625873612:109,994,890C/A—likely benign
rs14904160712:109,994,897T/G—uncertain significance
rs37196095312:109,994,901T/C—uncertain significance
rs11167862712:109,994,908A/G—conflicting classifications of pathogenicity
rs144774987312:109,994,910A/G—uncertain significance
rs36929614212:109,994,920C/T—likely benign
rs14207043912:109,994,921G/A—conflicting classifications of pathogenicity
rs76218740312:109,994,926G/C—likely benign

Showing 100 of 417 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.