Variant: rs786203999 

    present in Gene: GPT2
    present in Chromosome: 16
    Position on Chromosome: 46906858
    Alleles of this Variant: C/G

rs786203999 in GPT2 gene and MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49 PMID 25758935 2015 Loss of function mutation in glutamic pyruvate transaminase 2 (GPT2) causes developmental encephalopathy.