Variant: rs724159991 

    present in Gene: TMEM186;ABAT
    present in Chromosome: 16
    Position on Chromosome: 8781360
    Alleles of this Variant: T/C

rs724159991 in TMEM186;ABAT gene and Gamma aminobutyric acid transaminase deficiency PMID 20052547 2010 A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy.

rs724159991 in TMEM186;ABAT gene and Generalized hypotonia PMID 20052547 2010 A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy.

rs724159991 in TMEM186;ABAT gene and Hyperreflexia PMID 20052547 2010 A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy.

rs724159991 in TMEM186;ABAT gene and Seizures, intractable PMID 20052547 2010 A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy.

rs724159991 in TMEM186;ABAT gene and Severe global developmental delay PMID 20052547 2010 A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy.