rs121908923
This is a variant in the COLQ gene that changes a tyrosine to an serine.
▶ClinVar annotation
COLQ-related disorder; Congenital myasthenic syndrome (CMS); Congenital myasthenic syndrome 5; Slow-Channel Congenital Myasthenia Syndrome (CMS1A)
View on ClinVar →About COLQ
This gene encodes the subunit of a collagen-like molecule associated with acetylcholinesterase in skeletal muscle. Each molecule is composed of three identical subunits. Each subunit contains a proline-rich attachment domain (PRAD) that binds an acetylcholinesterase tetramer to anchor the catalytic subunit of the enzyme to the basal lamina. Mutations in this gene are associated with endplate acetylcholinesterase deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
View all COLQ variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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