{{Rsnum
|rsid=1731017
|Gene=ABAT
|Chromosome=16
|position=8746097
|Orientation=minus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.4513
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=ABAT
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 37.5 | 49.1 | 13.4
| HCB | 36.0 | 50.0 | 14.0
| JPT | 42.5 | 47.8 | 9.7
| YRI | 4.8 | 38.1 | 57.1
| ASW | 19.3 | 42.1 | 38.6
| CHB | 36.0 | 50.0 | 14.0
| CHD | 34.9 | 45.0 | 20.2
| GIH | 30.7 | 46.5 | 22.8
| LWK | 10.0 | 33.6 | 56.4
| MEX | 37.9 | 56.9 | 5.2
| MKK | 13.5 | 46.2 | 40.4
| TSI | 34.3 | 46.1 | 19.6
| HapMapRevision=28
}}{{Venter SNP
|rsid=1731017
|allele=G
|frequency=0.6
|uid=1103645419099
|type=homozygous_SNP
|hugo=ABAT
|ensembl gene=ENSG00000183044
|ensembl transcript=ENST00000268251
|sift=TOLERATED
|disease=Defects in ABAT are a cause of GABA-AT deficiency (MIM:137150). The phenotype of this deficiency includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities.
}}

{{PMID Auto
|PMID=15830322
|Title=Candidate-gene screening and association analysis at the autism-susceptibility locus on chromosome 16p: evidence of association at GRIN2A and ABAT.
|OA=1
}}

{{GET Evidence
|gene=ABAT
|aa_change=Gln56Arg
|aa_change_short=Q56R
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1731017
|overall_frequency_n=5524
|overall_frequency_d=10756
|overall_frequency=0.513574
|n_genomes=43
|n_genomes_annotated=0
|n_haplomes=63
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=0
|autoscore=2
|n_web_uneval=4
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}