present in Gene: GPT2
present in Chromosome: 16
Position on Chromosome: 46884785
Alleles of this Variant: C/T
rs1437184398 in
GPT2 gene and
Dysmorphic features
PMID 29226631 2018 Novel compound heterozygous mutations in GPT2 linked to microcephaly, and intellectual developmental disability with or without spastic paraplegia.
PMID 27601654 2016 Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features.
PMID 28130718 2017 A Homozygous Mutation in GPT2 Associated with Nonsyndromic Intellectual Disability in a Consanguineous Family from Costa Rica.
PMID 24901346 2014 The usefulness of whole-exome sequencing in routine clinical practice.
PMID 25758935 2015 Loss of function mutation in glutamic pyruvate transaminase 2 (GPT2) causes developmental encephalopathy.
rs1437184398 in
GPT2 gene and
Movement Disorders
PMID 29226631 2018 Novel compound heterozygous mutations in GPT2 linked to microcephaly, and intellectual developmental disability with or without spastic paraplegia.
PMID 27601654 2016 Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features.
PMID 28130718 2017 A Homozygous Mutation in GPT2 Associated with Nonsyndromic Intellectual Disability in a Consanguineous Family from Costa Rica.
PMID 24901346 2014 The usefulness of whole-exome sequencing in routine clinical practice.
PMID 25758935 2015 Loss of function mutation in glutamic pyruvate transaminase 2 (GPT2) causes developmental encephalopathy.