Variant: rs797044951 

    present in Gene: GNAO1
    present in Chromosome: 16
    Position on Chromosome: 56351396
    Alleles of this Variant: G/A

rs797044951 in GNAO1 gene and Movement Disorders PMID 27068059 2016 Clinical Course of Six Children With GNAO1 Mutations Causing a Severe and Distinctive Movement Disorder.

PMID 25590979 2015 Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.

PMID 26060304 2016 Progressive Movement Disorder in Brothers Carrying a GNAO1 Mutation Responsive to Deep Brain Stimulation.

PMID 9050846 1997 G alpha(o) is necessary for muscarinic regulation of Ca2+ channels in mouse heart.

PMID 25966631 2016 Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay.

PMID 21220323 2011 Augmented glucose-induced insulin release in mice lacking G(o2), but not G(o1) or G(i) proteins.

PMID 23993195 2013 De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy.

PMID 28747448 2017 Movement disorder in GNAO1 encephalopathy associated with gain-of-function mutations.

PMID 28503590 2019 Clinical Phenotype of De Novo GNAO1 Mutation: Case Report and Review of Literature.

PMID 28357411 2017 GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome.

PMID 26485252 2015 Clinical whole-exome sequencing reveals a novel missense pathogenic variant of GNAO1 in a patient with infantile-onset epilepsy.

rs797044951 in GNAO1 gene and Muscle hypotonia PMID 26485252 2015 Clinical whole-exome sequencing reveals a novel missense pathogenic variant of GNAO1 in a patient with infantile-onset epilepsy.

PMID 21220323 2011 Augmented glucose-induced insulin release in mice lacking G(o2), but not G(o1) or G(i) proteins.

PMID 23993195 2013 De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy.

PMID 28503590 2019 Clinical Phenotype of De Novo GNAO1 Mutation: Case Report and Review of Literature.

PMID 25590979 2015 Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.

PMID 28357411 2017 GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome.

PMID 25966631 2016 Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay.

PMID 26060304 2016 Progressive Movement Disorder in Brothers Carrying a GNAO1 Mutation Responsive to Deep Brain Stimulation.

PMID 9050846 1997 G alpha(o) is necessary for muscarinic regulation of Ca2+ channels in mouse heart.

PMID 27068059 2016 Clinical Course of Six Children With GNAO1 Mutations Causing a Severe and Distinctive Movement Disorder.

PMID 28747448 2017 Movement disorder in GNAO1 encephalopathy associated with gain-of-function mutations.