COLQ Chromosome 3
Collagen like tail subunit of asymmetric acetylcholinesterase
Upload your DNA to see your personal genotypes for variants in COLQ.
What This Gene Does
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]
Gene Info
Gene Group
MicroRNA protein coding host genes
Locus Type
gene with protein product
Location
3p25.1
Ensembl
ENSG00000206561
Associated Conditions (9)
Congenital myasthenic syndrome 5
See cases
Inborn genetic diseases
COLQ-related disorder
Congenital myasthenic syndrome
Abnormality of the musculature
Synaptic congenital myasthenic syndromes
Slow-Channel Congenital Myasthenia Syndrome
Cervical cancer
Key Variants
RS113843907
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 5, See cases, Congenital myasthenic syndrome 5
Health Risk
RS149370622
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5
Health Risk
RS189427175
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 5, Inborn genetic diseases, COLQ-related disorder
Health Risk
RS201376373
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 5, COLQ-related disorder, Congenital myasthenic syndrome 5
Health Risk
RS202019416
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 5, Inborn genetic diseases, Congenital myasthenic syndrome 5
Health Risk
RS368932156
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 5, Congenital myasthenic syndrome, Congenital myasthenic syndrome 5
Health Risk
RS375215281
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 5, COLQ-related disorder, Congenital myasthenic syndrome 5
Health Risk
RS375225755
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5
Health Risk
RS575840341
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5
Health Risk
RS747648795
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5
Health Risk
RS756975517
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5
Health Risk
RS768517440
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 5, Inborn genetic diseases, Congenital myasthenic syndrome 5
Health Risk
All Variants (111)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS752967536 | Health Risk | Likely pathogenic | Abnormality of the musculature, Abnormality of the musculature |
| RS758554049 | Health Risk | Likely pathogenic | Congenital myasthenic syndrome 5, Synaptic congenital myasthenic syndromes, Congenital myasthenic syndrome |
| RS769276577 | Health Risk | Likely pathogenic | Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5 |
| RS773689531 | Health Risk | Likely pathogenic | Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5 |
| RS890477253 | Health Risk | Likely pathogenic | Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5 |
| RS1025361623 | Health Risk | Pathogenic | Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5 |
| RS104893733 | Health Risk | Pathogenic | Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5 |
| RS104893734 | Health Risk | Pathogenic | Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5 |
| RS104893735 | Health Risk | Pathogenic | Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5 |
| RS1085307792 | Health Risk | Pathogenic | Congenital myasthenic syndrome 5, Congenital myasthenic syndrome, Congenital myasthenic syndrome 5 |
| RS121908922 | Health Risk | Pathogenic | Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5 |
| RS121908923 | Health Risk | Pathogenic | Congenital myasthenic syndrome 5, Slow-Channel Congenital Myasthenia Syndrome, Congenital myasthenic syndrome |
| RS121908924 | Health Risk | Pathogenic | Congenital myasthenic syndrome 5, Synaptic congenital myasthenic syndromes, Congenital myasthenic syndrome 5 |
| RS1302783957 | Health Risk | Pathogenic | — |
| RS1311078034 | Health Risk | Pathogenic | Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5 |
| RS1384843815 | Health Risk | Pathogenic | Congenital myasthenic syndrome 5, Congenital myasthenic syndrome, Congenital myasthenic syndrome 5 |
| RS1406384540 | Health Risk | Pathogenic | Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5 |
| RS1415796305 | Health Risk | Pathogenic | Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5 |
| RS149020371 | Health Risk | Pathogenic | Congenital myasthenic syndrome 5, Congenital myasthenic syndrome, Cervical cancer |
| RS1553634790 | Health Risk | Pathogenic | — |
| RS1559519107 | Health Risk | Pathogenic | Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5 |
| RS1575482936 | Health Risk | Pathogenic | Abnormality of the musculature, Abnormality of the musculature |
| RS185829251 | Health Risk | Pathogenic | Congenital myasthenic syndrome 5, Synaptic congenital myasthenic syndromes, Congenital myasthenic syndrome 5 |
| RS2062054043 | Health Risk | Pathogenic | Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5 |
| RS2062200939 | Health Risk | Pathogenic | Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5 |
| RS2062264317 | Health Risk | Pathogenic | Congenital myasthenic syndrome 5, Congenital myasthenic syndrome, Congenital myasthenic syndrome 5 |
| RS2125085333 | Health Risk | Pathogenic | Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5 |
| RS2125085542 | Health Risk | Pathogenic | Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5 |
| RS2125086401 | Health Risk | Pathogenic | Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5 |
| RS2125089093 | Health Risk | Pathogenic | Congenital myasthenic syndrome 5, Congenital myasthenic syndrome, Congenital myasthenic syndrome 5 |
| RS2125103406 | Health Risk | Pathogenic | Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5 |
| RS2125123167 | Health Risk | Pathogenic | Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5 |
| RS2470828785 | Health Risk | Pathogenic | Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5 |
| RS2470829078 | Health Risk | Pathogenic | Synaptic congenital myasthenic syndromes, Synaptic congenital myasthenic syndromes |
| RS2470920003 | Health Risk | Pathogenic | Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5 |
| RS2470923715 | Health Risk | Pathogenic | Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5 |
| RS2470924083 | Health Risk | Pathogenic | Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5 |
| RS2470924143 | Health Risk | Pathogenic | Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5 |
| RS375272767 | Health Risk | Pathogenic | Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5 |
| RS536042715 | Health Risk | Pathogenic | Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5 |
| RS755782087 | Health Risk | Pathogenic | Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5 |
| RS759874172 | Health Risk | Pathogenic | Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5 |
| RS759911990 | Health Risk | Pathogenic | Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5 |
| RS760669036 | Health Risk | Pathogenic | Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5 |
| RS769982050 | Health Risk | Pathogenic | Congenital myasthenic syndrome 5, Congenital myasthenic syndrome, Abnormality of the musculature |
| RS770045897 | Health Risk | Pathogenic | Congenital myasthenic syndrome 5, Synaptic congenital myasthenic syndromes, Congenital myasthenic syndrome |
| RS771866680 | Health Risk | Pathogenic | Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5 |
| RS971863968 | Health Risk | Pathogenic | Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5 |
| RS1172409117 | Health Risk | Pathogenic/Likely pathogenic | Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5 |
| RS1320483615 | Health Risk | Pathogenic/Likely pathogenic | Congenital myasthenic syndrome 5, Congenital myasthenic syndrome, Congenital myasthenic syndrome 5 |