Variant: rs121909502 

    present in Gene: CHRND
    present in Chromosome: 2
    Position on Chromosome: 232531397
    Alleles of this Variant: C/T

rs121909502 in CHRND gene and MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL PMID 8872460 1996 New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome.

PMID 11782989 2002 Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms.