Gene entry
COLQ
collagen like tail subunit of asymmetric acetylcholinesterase
- Chromosome
- 3
- Cytoband
- 3p25.1
- Variants (rsID)
- 21
COLQ is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 3 (region 3p25.1). Its official name is “collagen like tail subunit of asymmetric acetylcholinesterase”. The reference table lists 21 variants (rsID) for this gene.
Clinically classified variants
4 reference-table entries with clinical significance.
- rs116828761Benignsingle nucleotide variantCongenital myasthenic syndrome 5
- rs13074638Benignsingle nucleotide variant
- rs3274Benignsingle nucleotide variantCongenital myasthenic syndrome 5
- rs121908923Pathogenicsingle nucleotide variantCongenital myasthenic syndrome 5|Myasthenic syndrome, slow-channel congenital
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.