Variant: rs121434578 

    present in Gene: ABAT
    present in Chromosome: 16
    Position on Chromosome: 8768248
    Alleles of this Variant: G/A

rs121434578 in ABAT gene and Gamma aminobutyric acid transaminase deficiency PMID 20052547 2010 A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy.

PMID 23519317 2013 Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.

PMID 10407778 1999 4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency.

rs121434578 in ABAT gene and Generalized hypotonia PMID 20052547 2010 A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy.

rs121434578 in ABAT gene and Hyperreflexia PMID 20052547 2010 A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy.

rs121434578 in ABAT gene and Seizures, intractable PMID 20052547 2010 A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy.

rs121434578 in ABAT gene and Severe global developmental delay PMID 20052547 2010 A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy.