Variant: rs121909510 

    present in Gene: C17orf107;CHRNE
    present in Chromosome: 17
    Position on Chromosome: 4900860
    Alleles of this Variant: T/G

rs121909510 in C17orf107;CHRNE gene and MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL PMID 27375219 2016 Mutations Causing Slow-Channel Myasthenia Reveal That a Valine Ring in the Channel Pore of Muscle AChR is Optimized for Stabilizing Channel Gating.

PMID 7531341 1995 Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit.

PMID 7538206 1995 A leucine-to-phenylalanine substitution in the acetylcholine receptor ion channel in a family with the slow-channel syndrome.

PMID 8872460 1996 New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome.

PMID 12141316 2002 Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes.