Variant: rs137852804 

    present in Gene: CHRNA1
    present in Chromosome: 2
    Position on Chromosome: 174750035
    Alleles of this Variant: C/T

rs137852804 in CHRNA1 gene and MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL PMID 15079006 2004 Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome.

PMID 12588888 2003 Mutation causing severe myasthenia reveals functional asymmetry of AChR signature cystine loops in agonist binding and gating.

PMID 10195214 1999 Acetylcholine receptor M3 domain: stereochemical and volume contributions to channel gating.