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Variant (rsID / SNP)

rs142482046

ALDH5A1

rs142482046 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALDH5A1. Location: chromosome 6, position 24,533,753. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ALDH5A1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
6:24533753
Cytoband
6p22.3
HGVS
NM_001080.3(ALDH5A1):c.1421A>C (p.Asp474Ala)
Allele change
Missense_D474A

Associated conditions / phenotypes

EEG abnormality|Succinate-semialdehyde dehydrogenase deficiency

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.