Variant: rs121909516 

    present in Gene: C17orf107;CHRNE
    present in Chromosome: 17
    Position on Chromosome: 4901944
    Alleles of this Variant: G/A;C

rs121909516 in C17orf107;CHRNE gene and MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL PMID 22592360 2012 Highly fatal fast-channel syndrome caused by AChR ε subunit mutation at the agonist binding site.

PMID 8755487 1996 Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit.

PMID 10962020 2000 Fundamental gating mechanism of nicotinic receptor channel revealed by mutation causing a congenital myasthenic syndrome.