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Gene entry

BCKDHA

branched chain keto acid dehydrogenase E1 subunit alpha

Chromosome
19
Cytoband
19q13.2
Variants (rsID)
23

BCKDHA is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 19 (region 19q13.2). Its official name is “branched chain keto acid dehydrogenase E1 subunit alpha”. The reference table lists 23 variants (rsID) for this gene.

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Clinically classified variants

21 reference-table entries with clinical significance.

  • rs114716391Benignsingle nucleotide variantMaple syrup urine disease|Maple syrup urine disease type 1A
  • rs199725420Benignsingle nucleotide variantMaple syrup urine disease|Maple syrup urine disease type 1A
  • rs284653Benignsingle nucleotide variantMaple syrup urine disease
  • rs34442879Benignsingle nucleotide variantMaple syrup urine disease|Maple syrup urine disease type 1A
  • rs45500792Benignsingle nucleotide variantMaple syrup urine disease
  • rs137852873Conflicting interpretationssingle nucleotide variantMaple syrup urine disease type 1A|Maple syrup urine disease
  • rs148571328Conflicting interpretationssingle nucleotide variantMaple syrup urine disease|Maple syrup urine disease type 1A
  • rs182923857Conflicting interpretationssingle nucleotide variantMaple syrup urine disease
  • rs373390136Conflicting interpretationssingle nucleotide variantMaple syrup urine disease|Maple syrup urine disease type 1A
  • rs373713279Conflicting interpretationssingle nucleotide variantMaple syrup urine disease
  • rs374403946Conflicting interpretationssingle nucleotide variantMaple syrup urine disease
  • rs398123514Conflicting interpretationssingle nucleotide variantMaple syrup urine disease|Maple syrup urine disease type 1A
  • rs137852874Likely pathogenicsingle nucleotide variantMaple syrup urine disease type 1A|Maple syrup urine disease
  • rs188135164Likely pathogenicsingle nucleotide variantMaple syrup urine disease|Maple syrup urine disease type 1A
  • rs137852870Pathogenicsingle nucleotide variantMaple syrup urine disease type 1A|Maple syrup urine disease
  • rs137852871Pathogenicsingle nucleotide variantMAPLE SYRUP URINE DISEASE, INTERMEDIATE, TYPE IA|Maple syrup urine disease|Maple syrup urine disease type 1A
  • rs137852875Pathogenicsingle nucleotide variantMaple syrup urine disease type 1A|Maple syrup urine disease
  • rs375785084Pathogenicsingle nucleotide variantMaple syrup urine disease|Maple syrup urine disease type 1A
  • rs796051938PathogenicDeletionMaple syrup urine disease
  • rs863225262Pathogenicsingle nucleotide variantMaple syrup urine disease
  • rs201168715Uncertain significancesingle nucleotide variantMaple syrup urine disease|Maple syrup urine disease type 1A

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.