Variant: rs765561257 

    present in Gene: ALDH5A1;GPLD1
    present in Chromosome: 6
    Position on Chromosome: 24495274
    Alleles of this Variant: G/A;T

rs765561257 in ALDH5A1;GPLD1 gene and succinic semialdehyde dehydrogenase deficiency PMID 23519317 2013 Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.

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 11901270 2002 Mutation analysis in a patient with succinic semialdehyde dehydrogenase deficiency: a compound heterozygote with 103-121del and 1460T > A of the ALDH5A1 gene.

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