BCKDHB

branched chain keto acid dehydrogenase E1 subunit beta

Summary

This gene encodes the E1 beta subunit of branched-chain keto acid dehydrogenase, which is a multienzyme complex associated with the inner membrane of mitochondria. This enzyme complex functions in the catabolism of branched-chain amino acids. Mutations in this gene have been associated with maple syrup urine disease (MSUD), type 1B, a disease characterized by a maple syrup odor to the urine in addition to mental and physical retardation and feeding problems. Alternative splicing at this locus results in multiple transcript variants. [provided by RefSeq, Jan 2016]

Known Variants595 total

rsidPosition (GRCh37)AllelesClassClinVar
rs38121486:80,816,145G/A—benign
rs22983076:80,816,296T/C—benign
rs1134487146:80,816,340C/T—likely benign
rs7637464936:80,816,370C/T—uncertain significance
rs7470882496:80,816,396C/T—uncertain significance
rs10055424826:80,816,411A/T—pathogenic
rs9403918876:80,816,412T/C—pathogenic
rs8693121286:80,816,413G/Amissense variantpathogenic
rs7698766706:80,816,415C/T—uncertain significance
rs21276986226:80,816,416G/A—likely benign
rs13731551126:80,816,419T/A—likely benign
rs7742558906:80,816,420G/A—uncertain significance
rs21276986476:80,816,422A/G—likely benign
rs7720665886:80,816,425G/A—likely benign
rs5349755186:80,816,427C/T—likely benign
rs21276986966:80,816,428G/A—likely benign
rs7601979266:80,816,429G/A—uncertain significance
rs25333102096:80,816,431T/A—likely benign
rs7647840836:80,816,433C/G—uncertain significance
rs5584480666:80,816,434C/T—likely benign
rs5717282556:80,816,435G/A—likely benign
rs7807224736:80,816,436G/C—uncertain significance
rs10244234946:80,816,437C/G—likely benign
rs1139640446:80,816,441C/T—likely benign
rs7551409136:80,816,443A/T—likely benign
rs3981245726:80,816,443——pathogenic
rs14644978226:80,816,446C/G—uncertain significance
rs25333107216:80,816,447A/G—uncertain significance
rs13285643216:80,816,449G/A—likely benign
rs21276987946:80,816,452C/T—likely benign
rs7813734176:80,816,453A/C—likely benign
rs5376802966:80,816,457C/A—uncertain significance
rs9988933886:80,816,458G/T—likely benign
rs3762936876:80,816,461A/C—conflicting classifications of pathogenicity
rs9760859006:80,816,466C/T—uncertain significance
rs3683450656:80,816,473G/T—likely benign
rs25333115766:80,816,478G/A—pathogenic
rs21276988786:80,816,482T/G—likely benign
rs17690813186:80,816,487T/C—uncertain significance
rs9557551996:80,816,489C/T—uncertain significance
rs10575167956:80,816,489——pathogenic
rs25333121376:80,816,491T/C—likely benign
rs7762614126:80,816,494C/G—likely benign
rs94488846:80,816,496C/T—conflicting classifications of pathogenicity
rs5530581346:80,816,500G/A—likely benign
rs7634346076:80,816,502T/C—uncertain significance
rs17690844936:80,816,506G/A—likely benign
rs10575167316:80,816,507——pathogenic
rs7668113266:80,816,508G/A—uncertain significance
rs25333127376:80,816,509G/A—likely benign
rs12165044116:80,816,510G/A—uncertain significance
rs12949037606:80,816,512C/T—likely benign
rs7555922736:80,816,521C/T—likely benign
rs25333131046:80,816,524C/T—likely benign
rs9149353766:80,816,525G/A—uncertain significance
rs7679011226:80,816,527C/T—likely benign
rs7528926596:80,816,529C/T—uncertain significance
rs21276990656:80,816,530G/T—likely benign
rs354703666:80,816,532C/T—benign
rs25333133676:80,816,533T/G—likely benign
rs21276990886:80,816,536C/G—likely benign
rs21276991006:80,816,541A/G—uncertain significance
rs7776735416:80,816,545G/A—likely benign
rs17690894546:80,816,548C/T—likely benign
rs10575174146:80,816,549——pathogenic
rs25333137866:80,816,551G/A—likely benign
rs25333138736:80,816,555C/A—likely benign
rs3981245676:80,816,568A/C—uncertain significance
rs21276992016:80,816,575T/G—likely benign
rs7477053826:80,816,578C/T—likely benign
rs15541811926:80,816,579C/T—pathogenic
rs7730318296:80,816,581G/C—uncertain significance
rs14660702006:80,816,583C/G—uncertain significance
rs17690937436:80,816,584A/G—likely benign
rs10561405486:80,816,589C/T—uncertain significance
rs7749169706:80,816,591G/T—pathogenic
rs11745395866:80,816,602G/A—likely benign
rs12095493396:80,816,603T/G—uncertain significance
rs14026348156:80,816,605C/G—pathogenic
rs13286080146:80,816,606G/T—pathogenic
rs15541812036:80,816,607G/T—likely pathogenic
rs3981245686:80,816,611G/A—uncertain significance
rs7530904986:80,816,613C/T—likely benign
rs13373925116:80,816,614C/G—likely benign
rs21276993696:80,816,616G/A—likely benign
rs7562466756:80,816,617G/A—likely benign
rs25333153836:80,816,619A/G—likely benign
rs7641181596:80,816,626A/T—likely benign
rs354477456:80,816,748T/C—benign
rs77536956:80,818,531C/G——
rs25059306:80,837,058A/G—benign
rs3981245696:80,837,234A/C—benign
rs94488936:80,837,239A/G—benign
rs7599612676:80,837,248T/C—likely benign
rs94488946:80,837,253G/T—likely benign
rs7611329786:80,837,254A/T—likely benign
rs13745567996:80,837,259C/T—likely benign
rs8693121276:80,837,262A/G—pathogenic
rs24815579666:80,837,263G/C—pathogenic
rs21277261026:80,837,267A/G—uncertain significance

Showing 100 of 595 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.