Variant: rs137852803 

    present in Gene: CHRNA1
    present in Chromosome: 2
    Position on Chromosome: 174750143
    Alleles of this Variant: C/A;G;T

rs137852803 in CHRNA1 gene and MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL PMID 8872460 1996 New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome.

PMID 9158151 1997 Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome.

PMID 16685696 2006 Slow-channel mutation in acetylcholine receptor alphaM4 domain and its efficient knockdown.

PMID 7619526 1995 Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity.

PMID 9221765 1997 Slow-channel myasthenic syndrome caused by enhanced activation, desensitization, and agonist binding affinity attributable to mutation in the M2 domain of the acetylcholine receptor alpha subunit.

rs137852803 in CHRNA1 gene and Muscle hypotonia PMID 18252226 2008 Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.

PMID 25305004 2014 Inherited disorders of the neuromuscular junction: an update.

PMID 15079006 2004 Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome.

PMID 18806275 2008 hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndrome.