Variant (rsID / SNP)

rs118203982

rs118203982 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALDH5A1. Location: chromosome 6, position 24,505,099. 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: 6:24505099
Cytoband: 6p22.3
HGVS: NM_001080.3(ALDH5A1):c.612G>A (p.Trp204Ter)
Allele change: Nonsense_W204X

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.