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Gene entry

HADHA

hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha

Chromosome
2
Cytoband
2p23.3
Variants (rsID)
22

HADHA is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2p23.3). Its official name is “hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha”. The reference table lists 22 variants (rsID) for this gene.

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Clinically classified variants

18 reference-table entries with clinical significance.

  • rs111662358Benignsingle nucleotide variantLong chain 3-hydroxyacyl-CoA dehydrogenase deficiency|Mitochondrial trifunctional protein deficiency|Mitochondrial trifunctional protein deficiency|Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
  • rs144414842Benignsingle nucleotide variantMitochondrial trifunctional protein deficiency|Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency|Mitochondrial trifunctional protein deficiency|Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
  • rs116320983Conflicting interpretationssingle nucleotide variantLong chain 3-hydroxyacyl-CoA dehydrogenase deficiency|Mitochondrial trifunctional protein deficiency
  • rs116396996Conflicting interpretationssingle nucleotide variantMitochondrial trifunctional protein deficiency|Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency|Mitochondrial trifunctional protein deficiency|Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
  • rs143832445Conflicting interpretationssingle nucleotide variantMitochondrial trifunctional protein deficiency|Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency|Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency|Mitochondrial trifunctional protein deficiency
  • rs145422395Conflicting interpretationssingle nucleotide variantMitochondrial trifunctional protein deficiency|Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
  • rs72809666Conflicting interpretationssingle nucleotide variantLong chain 3-hydroxyacyl-CoA dehydrogenase deficiency|Mitochondrial trifunctional protein deficiency
  • rs786204607Likely pathogenicsingle nucleotide variantLong chain 3-hydroxyacyl-CoA dehydrogenase deficiency
  • rs1057516217Pathogenicsingle nucleotide variantLong chain 3-hydroxyacyl-CoA dehydrogenase deficiency
  • rs137852769Pathogenicsingle nucleotide variantLchad deficiency with maternal acute fatty liver of pregnancy|Mitochondrial trifunctional protein deficiency|Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency|Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency|Mitochondrial trifunctional protein deficiency|Inborn genetic diseases|HADHA-Related Disorders|See cases
  • rs137852770Pathogenicsingle nucleotide variantMitochondrial trifunctional protein deficiency|Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency|Mitochondrial trifunctional protein deficiency|Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
  • rs137852774Pathogenicsingle nucleotide variantMitochondrial trifunctional protein deficiency|Mitochondrial trifunctional protein deficiency|Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency|Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
  • rs147103714Pathogenicsingle nucleotide variantMitochondrial trifunctional protein deficiency|Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency|Mitochondrial trifunctional protein deficiency
  • rs747985669PathogenicDeletionLong chain 3-hydroxyacyl-CoA dehydrogenase deficiency|Mitochondrial trifunctional protein deficiency
  • rs781205883PathogenicDeletionLong chain 3-hydroxyacyl-CoA dehydrogenase deficiency|HADHA-Related Disorders|Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency|Mitochondrial trifunctional protein deficiency
  • rs781222705Pathogenicsingle nucleotide variantMitochondrial trifunctional protein deficiency|Mitochondrial trifunctional protein deficiency|Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency|Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
  • rs141164185Uncertain significancesingle nucleotide variantLong chain 3-hydroxyacyl-CoA dehydrogenase deficiency|Mitochondrial trifunctional protein deficiency|Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
  • rs146406360Uncertain significancesingle nucleotide variantLong chain 3-hydroxyacyl-CoA dehydrogenase deficiency|Mitochondrial trifunctional protein deficiency|Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency|Mitochondrial trifunctional protein deficiency

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.