Variant: rs869312825 

    present in Gene: GNB1
    present in Chromosome: 1
    Position on Chromosome: 1804548
    Alleles of this Variant: T/C

rs869312825 in GNB1 gene and Complex partial seizure with impairment of consciousness PMID 27108799 2016 Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

rs869312825 in GNB1 gene and Developmental regression PMID 27108799 2016 Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

rs869312825 in GNB1 gene and EEG with generalized epileptiform discharges PMID 27108799 2016 Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

rs869312825 in GNB1 gene and Expressive language delay PMID 27108799 2016 Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

rs869312825 in GNB1 gene and Global developmental delay PMID 27108799 2016 Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

rs869312825 in GNB1 gene and MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 PMID 27668284 2016 Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability.

PMID 25485910 2015 Mutations in G protein β subunits promote transformation and kinase inhibitor resistance.

PMID 28087732 2017 Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans.

PMID 27108799 2016 Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

rs869312825 in GNB1 gene and Multifocal epileptiform discharges PMID 27108799 2016 Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

rs869312825 in GNB1 gene and Muscle hypotonia PMID 27108799 2016 Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

rs869312825 in GNB1 gene and Poor school performance PMID 27108799 2016 Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

rs869312825 in GNB1 gene and Seizures PMID 27108799 2016 Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

rs869312825 in GNB1 gene and Tonic - clonic seizures PMID 27108799 2016 Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.