Gene entry
ALDH5A1
aldehyde dehydrogenase 5 family member A1
- Chromosome
- 6
- Cytoband
- 6p22.3
- Variants (rsID)
- 24
ALDH5A1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 6 (region 6p22.3). Its official name is “aldehyde dehydrogenase 5 family member A1”. The reference table lists 24 variants (rsID) for this gene.
Clinically classified variants
9 reference-table entries with clinical significance.
- rs13197086Benignsingle nucleotide variantSuccinate-semialdehyde dehydrogenase deficiency
- rs149482918Benignsingle nucleotide variantSuccinate-semialdehyde dehydrogenase deficiency
- rs2760118Benignsingle nucleotide variantSuccinate-semialdehyde dehydrogenase deficiency
- rs34809203Benignsingle nucleotide variantSuccinate-semialdehyde dehydrogenase deficiency
- rs3765310Benignsingle nucleotide variantSuccinate-semialdehyde dehydrogenase deficiency
- rs62621664Benignsingle nucleotide variantSuccinate-semialdehyde dehydrogenase deficiency
- rs142482046Conflicting interpretationssingle nucleotide variantEEG abnormality|Succinate-semialdehyde dehydrogenase deficiency
- rs118203982Pathogenicsingle nucleotide variantSuccinate-semialdehyde dehydrogenase deficiency
- rs118203984Pathogenicsingle nucleotide variantSuccinate-semialdehyde dehydrogenase 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.