present in Gene: COLQ
present in Chromosome: 3
Position on Chromosome: 15456012
Alleles of this Variant: G/-
rs769982050 in
COLQ gene and
Myasthenic Syndromes, Congenital
PMID 24281389 2014 COOH-terminal collagen Q (COLQ) mutants causing human deficiency of endplate acetylcholinesterase impair the interaction of ColQ with proteins of the basal lamina.
PMID 9689136 1998 Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme.
PMID 22678886 2012 Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients.