COLQ
collagen like tail subunit of asymmetric acetylcholinesterase
Summary
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]
Known Variants478 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs751038602 | 3:15,491,661 | T/G | — | uncertain significance |
| rs989975589 | 3:15,491,743 | G/A | — | uncertain significance |
| rs3274 | 3:15,491,756 | G/A | — | benign |
| rs886058093 | 3:15,491,859 | A/C | — | uncertain significance |
| rs146270961 | 3:15,491,871 | G/A | — | uncertain significance |
| rs572408115 | 3:15,491,874 | G/A | — | uncertain significance |
| rs373209743 | 3:15,491,903 | G/A | — | uncertain significance |
| rs376202299 | 3:15,492,067 | C/T | — | uncertain significance |
| rs3846128 | 3:15,492,150 | C/T | — | benign |
| rs886058094 | 3:15,492,152 | C/T | — | uncertain significance |
| rs77521642 | 3:15,492,157 | C/T | — | benign |
| rs886058095 | 3:15,492,158 | G/A | — | uncertain significance |
| rs550045499 | 3:15,492,303 | G/A | — | uncertain significance |
| rs368981773 | 3:15,492,400 | G/A | — | uncertain significance |
| rs1419160013 | 3:15,492,415 | T/C | — | uncertain significance |
| rs922188126 | 3:15,492,436 | C/T | — | uncertain significance |
| rs544927968 | 3:15,492,635 | C/T | — | uncertain significance |
| rs10154896 | 3:15,492,636 | G/A | — | benign |
| rs116231717 | 3:15,492,659 | C/T | — | benign |
| rs1308248041 | 3:15,492,705 | T/G | — | uncertain significance |
| rs763440701 | 3:15,492,725 | C/T | — | uncertain significance |
| rs886058096 | 3:15,492,726 | G/A | — | uncertain significance |
| rs533015053 | 3:15,492,730 | C/T | — | uncertain significance |
| rs569980572 | 3:15,492,744 | G/A | — | uncertain significance |
| rs2278962 | 3:15,492,786 | T/A | — | benign |
| rs2278961 | 3:15,492,807 | G/A | — | benign |
| rs766923758 | 3:15,492,875 | T/C | — | uncertain significance |
| rs886058097 | 3:15,492,894 | C/T | — | uncertain significance |
| rs749985637 | 3:15,492,962 | G/A | — | uncertain significance |
| rs550256310 | 3:15,492,982 | A/T | — | uncertain significance |
| rs768534998 | 3:15,493,066 | C/T | — | uncertain significance |
| rs886058098 | 3:15,493,075 | G/T | — | uncertain significance |
| rs754063500 | 3:15,493,147 | G/A | — | uncertain significance |
| rs188841362 | 3:15,493,153 | A/G | — | uncertain significance |
| rs754915644 | 3:15,493,164 | C/T | — | uncertain significance |
| rs368932156 | 3:15,493,165 | G/A | — | conflicting classifications of pathogenicity |
| rs1455550822 | 3:15,493,167 | C/T | — | uncertain significance |
| rs747648795 | 3:15,493,169 | G/A | — | conflicting classifications of pathogenicity |
| rs2061943968 | 3:15,493,171 | G/A | — | uncertain significance |
| rs1015425548 | 3:15,493,173 | G/A | — | uncertain significance |
| rs772919447 | 3:15,493,174 | T/C | — | uncertain significance |
| rs1575458625 | 3:15,493,179 | T/A | — | likely pathogenic |
| rs770753693 | 3:15,493,180 | C/T | — | uncertain significance |
| rs73818504 | 3:15,493,181 | G/C | — | uncertain significance |
| rs2125077465 | 3:15,493,188 | C/T | — | likely pathogenic |
| rs375215281 | 3:15,493,198 | T/C | — | conflicting classifications of pathogenicity |
| rs2125077498 | 3:15,493,200 | C/T | — | uncertain significance |
| rs1559510028 | 3:15,493,201 | A/G | — | uncertain significance |
| rs2470805780 | 3:15,493,206 | A/G | — | uncertain significance |
| rs754755194 | 3:15,493,220 | C/T | — | likely benign |
| rs1036242028 | 3:15,493,225 | G/A | — | likely benign |
| rs1372494255 | 3:15,493,229 | G/A | — | likely benign |
| rs994643666 | 3:15,493,235 | G/T | — | likely benign |
| rs375712012 | 3:15,493,240 | G/A | — | likely benign |
| rs111284326 | 3:15,493,251 | C/T | — | likely benign |
| rs150553139 | 3:15,495,146 | C/T | — | likely benign |
| rs1077827 | 3:15,495,301 | G/T | — | benign |
| rs71308146 | 3:15,495,302 | A/T | — | benign |
| rs1165126069 | 3:15,495,317 | G/C | — | likely benign |
| rs371351288 | 3:15,495,329 | T/A | — | likely benign |
| rs1384843815 | 3:15,495,333 | T/C | — | pathogenic |
| rs1575460231 | 3:15,495,336 | C/T | — | likely pathogenic |
| rs121908923 | 3:15,495,345 | T/G | missense variant | pathogenic |
| rs141721093 | 3:15,495,352 | C/T | — | uncertain significance |
| rs185829251 | 3:15,495,353 | G/A | — | pathogenic |
| rs1064795839 | 3:15,495,355 | A/G | missense variant | pathogenic |
| rs536042715 | 3:15,495,357 | G/A | — | pathogenic |
| rs1188131165 | 3:15,495,377 | G/A | — | likely benign |
| rs769114264 | 3:15,495,379 | C/T | — | uncertain significance |
| rs777147864 | 3:15,495,380 | G/A | — | likely benign |
| rs2470813471 | 3:15,495,384 | C/T | — | likely pathogenic |
| rs55866379 | 3:15,495,386 | G/A | — | benign |
| rs2470813553 | 3:15,495,402 | T/C | — | uncertain significance |
| rs1025361623 | 3:15,495,405 | C/T | — | pathogenic |
| rs139574075 | 3:15,495,406 | G/A | missense variant | pathogenic |
| rs1297066860 | 3:15,495,410 | A/G | — | likely benign |
| rs2470813619 | 3:15,495,413 | A/G | — | likely benign |
| rs1306593300 | 3:15,495,417 | C/G | — | likely pathogenic |
| rs1336071409 | 3:15,495,420 | C/A | — | uncertain significance |
| rs764064240 | 3:15,495,423 | T/C | — | uncertain significance |
| rs753830857 | 3:15,495,425 | G/A | — | likely benign |
| rs140670616 | 3:15,495,429 | C/T | — | uncertain significance |
| rs2470813762 | 3:15,495,434 | A/G | — | likely benign |
| rs375272767 | 3:15,495,438 | C/T | — | pathogenic |
| rs1360920116 | 3:15,495,454 | G/A | — | likely benign |
| rs749999496 | 3:15,495,455 | A/T | — | likely benign |
| rs1397568469 | 3:15,495,457 | G/T | — | likely benign |
| rs75838637 | 3:15,495,483 | G/A | — | likely benign |
| rs3773459 | 3:15,495,644 | T/C | — | benign |
| rs3773458 | 3:15,495,654 | A/G | — | benign |
| rs3773457 | 3:15,495,659 | C/T | — | benign |
| rs2345105 | 3:15,495,764 | A/G | — | benign |
| rs142984157 | 3:15,497,078 | C/T | — | likely benign |
| rs56366273 | 3:15,497,187 | C/T | — | benign |
| rs112017662 | 3:15,497,261 | G/A | — | benign |
| rs73818509 | 3:15,497,325 | C/A | — | benign |
| rs2062017303 | 3:15,497,389 | G/T | — | likely benign |
| rs2125085333 | 3:15,497,404 | A/G | — | pathogenic |
| rs755782087 | 3:15,497,405 | C/T | — | pathogenic |
| rs779594053 | 3:15,497,406 | G/C | — | uncertain significance |
Showing 100 of 478 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.