Gene entry
DLD
dihydrolipoamide dehydrogenase
- Chromosome
- 7
- Cytoband
- 7q31.1
- Variants (rsID)
- 10
DLD is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 7 (region 7q31.1). Its official name is “dihydrolipoamide dehydrogenase”. The reference table lists 10 variants (rsID) for this gene.
Clinically classified variants
8 reference-table entries with clinical significance.
- rs2228664Benignsingle nucleotide variantLeigh syndrome|Pyruvate dehydrogenase complex deficiency|Pyruvate dehydrogenase E3 deficiency
- rs3213673Benignsingle nucleotide variantMaple syrup urine disease|Pyruvate dehydrogenase complex deficiency|Leigh syndrome|Cobblestone lissencephaly without muscular or ocular involvement
- rs34453495Benignsingle nucleotide variantPyruvate dehydrogenase E3 deficiency|Pyruvate dehydrogenase complex deficiency|Leigh syndrome
- rs75077312Benignsingle nucleotide variantLeigh syndrome|Pyruvate dehydrogenase complex deficiency|Pyruvate dehydrogenase E3 deficiency
- rs61749952Conflicting interpretationssingle nucleotide variantLeigh syndrome|Pyruvate dehydrogenase complex deficiency|Pyruvate dehydrogenase E3 deficiency
- rs121964988Pathogenicsingle nucleotide variantPyruvate dehydrogenase E3 deficiency
- rs121964990Pathogenicsingle nucleotide variantPyruvate dehydrogenase E3 deficiency|DLD-Related Disorders|Inborn genetic diseases
- rs121964992Pathogenicsingle nucleotide variantPyruvate dehydrogenase E3 deficiency|DLD-Related Disorders|Inborn genetic diseases|See cases
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.