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Gene entry

BCKDK

branched chain keto acid dehydrogenase kinase

Chromosome
16
Cytoband
16p11.2
Variants (rsID)
1

BCKDK is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 16 (region 16p11.2). Its official name is “branched chain keto acid dehydrogenase kinase”. The reference table lists 1 variant (rsID) for this gene.

Clinically classified variants

1 reference-table entries with clinical significance.

  • rs14235Benignsingle nucleotide variantBranched-chain keto acid dehydrogenase kinase deficiency

Public references

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