Variant: rs763258280 

    present in Gene: C17orf107;CHRNE
    present in Chromosome: 17
    Position on Chromosome: 4898891
    Alleles of this Variant: C/-

rs763258280 in C17orf107;CHRNE gene and MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY PMID 9668239 1998 A single nucleotide deletion in the epsilon subunit of the acetylcholine receptor (AChR) in five congenital myasthenic syndrome patients with AChR deficiency.

PMID 10514102 1999 Novel functional epsilon-subunit polypeptide generated by a single nucleotide deletion in acetylcholine receptor deficiency congenital myasthenic syndrome.

rs763258280 in C17orf107;CHRNE gene and Myasthenic Syndromes, Congenital PMID 10534268 1999 A common mutation (epsilon1267delG) in congenital myasthenic patients of Gypsy ethnic origin.

PMID 15322984 2004 Mutation history of the roma/gypsies.