Variant: rs1025361623 

    present in Gene: COLQ
    present in Chromosome: 3
    Position on Chromosome: 15453898
    Alleles of this Variant: C/G;T

rs1025361623 in COLQ gene and ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder) PMID 10665486 2000 The spectrum of mutations causing end-plate acetylcholinesterase deficiency.

PMID 11865139 2002 Three novel COLQ mutations and variation of phenotypic expressivity due to G240X.

PMID 9758617 1998 Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic).

PMID 24938146 2014 Clinical and molecular analysis of a novel COLQ missense mutation causing congenital myasthenic syndrome in a Syrian family.