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Gene entry

BCKDHB

branched chain keto acid dehydrogenase E1 subunit beta

Chromosome
6
Cytoband
6q14.1
Variants (rsID)
64

BCKDHB is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 6 (region 6q14.1). Its official name is “branched chain keto acid dehydrogenase E1 subunit beta”. The reference table lists 64 variants (rsID) for this gene.

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Clinically classified variants

7 reference-table entries with clinical significance.

  • rs140373763Conflicting interpretationssingle nucleotide variantMaple syrup urine disease
  • rs371518124Conflicting interpretationssingle nucleotide variantMaple syrup urine disease
  • rs376293687Conflicting interpretationssingle nucleotide variantMaple syrup urine disease|Maple syrup urine disease type 1B
  • rs121965004Pathogenicsingle nucleotide variantMAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB
  • rs386834233Pathogenicsingle nucleotide variantMaple syrup urine disease|Maple syrup urine disease type 1B
  • rs386834234Pathogenicsingle nucleotide variantMaple syrup urine disease
  • rs79761867Pathogenicsingle nucleotide variantMAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB|Maple syrup urine disease|Maple syrup urine disease type 1B

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.