Variant: rs145955590 

    present in Gene: CHRND
    present in Chromosome: 2
    Position on Chromosome: 232534087
    Alleles of this Variant: G/A;C

rs145955590 in CHRND gene and MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY PMID 16916845 2006 CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn.

PMID 18398509 2008 Congenital myasthenia-related AChR delta subunit mutation interferes with intersubunit communication essential for channel gating.