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Gene entry

ALDH4A1

aldehyde dehydrogenase 4 family member A1

Chromosome
1
Cytoband
1p36.13
Variants (rsID)
35

ALDH4A1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1p36.13). Its official name is “aldehyde dehydrogenase 4 family member A1”. The reference table lists 35 variants (rsID) for this gene.

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Clinically classified variants

11 reference-table entries with clinical significance.

  • rs1138333Benignsingle nucleotide variantDeficiency of pyrroline-5-carboxylate reductase
  • rs113846237Benignsingle nucleotide variantDeficiency of pyrroline-5-carboxylate reductase
  • rs14311Benignsingle nucleotide variantDeficiency of pyrroline-5-carboxylate reductase
  • rs2230705Benignsingle nucleotide variantDeficiency of pyrroline-5-carboxylate reductase
  • rs2230707Benignsingle nucleotide variantDeficiency of pyrroline-5-carboxylate reductase
  • rs41273175Benignsingle nucleotide variantDeficiency of pyrroline-5-carboxylate reductase
  • rs6695033Benignsingle nucleotide variantDeficiency of pyrroline-5-carboxylate reductase
  • rs139640415Conflicting interpretationssingle nucleotide variantDeficiency of pyrroline-5-carboxylate reductase|Intellectual disability
  • rs41310410Conflicting interpretationssingle nucleotide variantDeficiency of pyrroline-5-carboxylate reductase
  • rs2230710Likely benignsingle nucleotide variantDeficiency of pyrroline-5-carboxylate reductase
  • rs137852937Uncertain significancesingle nucleotide variantDeficiency of pyrroline-5-carboxylate reductase

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.