Variant: rs137852801 

    present in Gene: CHRNA1
    present in Chromosome: 2
    Position on Chromosome: 174754242
    Alleles of this Variant: C/T

rs137852801 in CHRNA1 gene and MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE PMID 7619526 1995 Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity.

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 6287911 1982 A newly recognized congenital myasthenic syndrome attributed to a prolonged open time of the acetylcholine-induced ion channel.

rs137852801 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 16685696 2006 Slow-channel mutation in acetylcholine receptor alphaM4 domain and its efficient knockdown.

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.

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