Variant: rs1057523345

present in Gene: ABAT;TMEM186 present in Chromosome: 16 Position on Chromosome: 8781321 Alleles of this Variant: G/A

rs1057523345 in ABAT;TMEM186 gene and Gamma aminobutyric acid transaminase deficiency PMID 31133775 2019 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis.