Variant: rs118203982 

    present in Gene: ALDH5A1
    present in Chromosome: 6
    Position on Chromosome: 24504871
    Alleles of this Variant: G/A

rs118203982 in ALDH5A1 gene and succinic semialdehyde dehydrogenase deficiency PMID 26964512 2019 Psychomotor delay, hypotonia, and behavioural disorders: A case of succinic semialdehyde dehydrogenase deficiency.

PMID 14635103 2003 Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency.

PMID 11243727 2001 Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses.