Gene entry
DBT
dihydrolipoamide branched chain transacylase E2
- Chromosome
- 1
- Cytoband
- 1p21.2
- Variants (rsID)
- 15
DBT is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1p21.2). Its official name is “dihydrolipoamide branched chain transacylase E2”. The reference table lists 15 variants (rsID) for this gene.
Clinically classified variants
9 reference-table entries with clinical significance.
- rs12044663Benignsingle nucleotide variantMaple syrup urine disease
- rs146249007Benignsingle nucleotide variantMaple syrup urine disease
- rs34267966Benignsingle nucleotide variantMaple syrup urine disease
- rs138796800Conflicting interpretationssingle nucleotide variantMaple syrup urine disease
- rs201318480Conflicting interpretationssingle nucleotide variantMaple syrup urine disease
- rs121964999Pathogenicsingle nucleotide variantMaple syrup urine disease, thiamine-responsive, type II|Maple syrup urine disease|See cases
- rs185492864Pathogenicsingle nucleotide variantMaple syrup urine disease
- rs398123676Pathogenicsingle nucleotide variantMaple syrup urine disease|Maple syrup urine disease type 2
- rs768832921PathogenicDeletionMaple syrup urine disease type 2|Maple syrup urine disease
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.