Variant (rsID / SNP)

rs118203984

rs118203984 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALDH5A1. Location: chromosome 6, position 24,528,277. Clinical significance in the table: Pathogenic.

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Reference-table entries

ALDH5A1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:24528277
Cytoband: 6p22.3
HGVS: NM_001080.3(ALDH5A1):c.1226G>A (p.Gly409Asp)
Allele change: Missense_G409D

Associated conditions / phenotypes

Succinate-semialdehyde dehydrogenase deficiency

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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