Variant: rs1553194162 

    present in Gene: GNB1
    present in Chromosome: 1
    Position on Chromosome: 1804496
    Alleles of this Variant: T/C

rs1553194162 in GNB1 gene and MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 PMID 27108799 2016 Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

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

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

PMID 27668284 2016 Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability.

rs1553194162 in GNB1 gene and Muscle hypotonia PMID 25485910 2015 Mutations in G protein β subunits promote transformation and kinase inhibitor resistance.

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

PMID 27668284 2016 Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability.

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

PMID 10819326 2000 Genomic characterization of the human heterotrimeric G protein alpha, beta, and gamma subunit genes.