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Gene entry

ALDH18A1

aldehyde dehydrogenase 18 family member A1

Chromosome
10
Cytoband
10q24.1
Variants (rsID)
21

ALDH18A1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 10 (region 10q24.1). Its official name is “aldehyde dehydrogenase 18 family member A1”. The reference table lists 21 variants (rsID) for this gene.

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Clinically classified variants

10 reference-table entries with clinical significance.

  • rs149309642Benignsingle nucleotide variantALDH18A1-related de Barsy syndrome|de Barsy syndrome|Hereditary spastic paraplegia 9A|Cutis laxa, autosomal dominant 3|Hereditary spastic paraplegia
  • rs1804934Benignsingle nucleotide variantALDH18A1-related de Barsy syndrome|Cutis laxa, autosomal dominant 3|Hereditary spastic paraplegia 9A|de Barsy syndrome|Hereditary spastic paraplegia
  • rs2275272Benignsingle nucleotide variantALDH18A1-related de Barsy syndrome|Hereditary spastic paraplegia 9A|Cutis laxa, autosomal dominant 3|de Barsy syndrome|Cutis laxa, autosomal dominant 3|Autosomal recessive complex spastic paraplegia type 9B|Hereditary spastic paraplegia 9A
  • rs3765571Benignsingle nucleotide variantCutis laxa, autosomal dominant 3|Hereditary spastic paraplegia 9A|de Barsy syndrome|ALDH18A1-related de Barsy syndrome|Hereditary spastic paraplegia
  • rs41291566Benignsingle nucleotide variantALDH18A1-related de Barsy syndrome|Hereditary spastic paraplegia 9A|Cutis laxa, autosomal dominant 3|de Barsy syndrome|Hereditary spastic paraplegia
  • rs144816455Conflicting interpretationssingle nucleotide variantALDH18A1-related de Barsy syndrome|Hereditary spastic paraplegia|de Barsy syndrome|Hereditary spastic paraplegia 9A|Cutis laxa, autosomal dominant 3
  • rs571140165Conflicting interpretationssingle nucleotide variantALDH18A1-related de Barsy syndrome
  • rs863225044Pathogenicsingle nucleotide variantCutis laxa, autosomal dominant 3
  • rs201801058Uncertain significancesingle nucleotide variantde Barsy syndrome|Hereditary spastic paraplegia 9A|Cutis laxa, autosomal dominant 3
  • rs768323248Uncertain significancesingle nucleotide variantAutosomal recessive complex spastic paraplegia type 9B

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.