COL6A3
collagen type VI alpha 3 chain
Summary
This gene encodes the alpha-3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha-3 chain of type VI collagen is much larger than the alpha-1 and -2 chains. This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, that are found in the amino terminal globular domain of all the alpha chains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in the type VI collagen genes are associated with Bethlem myopathy, a rare autosomal dominant proximal myopathy with early childhood onset. Mutations in this gene are also a cause of Ullrich congenital muscular dystrophy, also referred to as Ullrich scleroatonic muscular dystrophy, an autosomal recessive congenital myopathy that is more severe than Bethlem myopathy. Multiple transcript variants have been identified, but the full-length nature of only some of these variants has been described. [provided by RefSeq, Jun 2009]
Known Variants2,882 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs886055801 | 2:238,232,663 | A/T | — | uncertain significance |
| rs1050785 | 2:238,232,752 | C/A | — | benign |
| rs184900191 | 2:238,232,754 | A/C | — | benign |
| rs1699811416 | 2:238,232,802 | C/T | — | uncertain significance |
| rs7436 | 2:238,232,811 | T/A | — | benign |
| rs574954721 | 2:238,232,991 | C/T | — | likely benign |
| rs557107413 | 2:238,233,040 | G/A | — | uncertain significance |
| rs545556564 | 2:238,233,132 | T/C | — | uncertain significance |
| rs886055802 | 2:238,233,327 | G/A | — | uncertain significance |
| rs188002584 | 2:238,233,366 | G/C | — | uncertain significance |
| rs4663722 | 2:238,233,410 | C/G | — | uncertain significance |
| rs2106297671 | 2:238,233,422 | T/G | — | uncertain significance |
| rs148183839 | 2:238,233,427 | A/G | — | conflicting classifications of pathogenicity |
| rs1559179763 | 2:238,233,428 | T/G | — | likely benign |
| rs568632361 | 2:238,233,443 | C/T | — | conflicting classifications of pathogenicity |
| rs1008454322 | 2:238,233,447 | T/C | — | likely benign |
| rs537511128 | 2:238,233,452 | C/T | — | conflicting classifications of pathogenicity |
| rs150376179 | 2:238,233,453 | G/A | — | conflicting classifications of pathogenicity |
| rs1409714765 | 2:238,233,457 | A/C | — | uncertain significance |
| rs142546062 | 2:238,233,459 | T/C | — | uncertain significance |
| rs886043555 | 2:238,233,462 | G/A | — | conflicting classifications of pathogenicity |
| rs367899223 | 2:238,233,463 | C/A | — | likely benign |
| rs374024399 | 2:238,233,464 | G/A | — | likely benign |
| rs766439690 | 2:238,233,466 | C/T | — | likely benign |
| rs184617787 | 2:238,233,467 | G/A | — | conflicting classifications of pathogenicity |
| rs957142857 | 2:238,233,469 | G/C | — | likely benign |
| rs112123472 | 2:238,233,473 | G/C | — | likely benign |
| rs752501337 | 2:238,233,474 | G/T | — | likely benign |
| rs13032404 | 2:238,233,483 | G/A | — | benign |
| rs189663625 | 2:238,233,631 | C/T | — | likely benign |
| rs72984147 | 2:238,233,665 | T/A | — | benign |
| rs75541025 | 2:238,233,717 | T/C | — | likely benign |
| rs1574910862 | 2:238,234,187 | A/G | — | likely benign |
| rs2469765036 | 2:238,234,189 | G/A | — | likely benign |
| rs536456690 | 2:238,234,195 | T/A | — | likely benign |
| rs367728719 | 2:238,234,207 | A/G | — | likely benign |
| rs553486570 | 2:238,234,209 | C/T | — | conflicting classifications of pathogenicity |
| rs757091142 | 2:238,234,210 | G/A | — | likely benign |
| rs113992704 | 2:238,234,216 | C/T | — | likely benign |
| rs1559180678 | 2:238,234,219 | T/G | — | uncertain significance |
| rs2469765241 | 2:238,234,231 | C/G | — | uncertain significance |
| rs886044034 | 2:238,234,237 | T/C | — | conflicting classifications of pathogenicity |
| rs1553541451 | 2:238,234,238 | C/A | — | uncertain significance |
| rs769392747 | 2:238,234,239 | C/G | — | conflicting classifications of pathogenicity |
| rs371468515 | 2:238,234,245 | T/C | — | uncertain significance |
| rs1327434207 | 2:238,234,246 | G/T | — | uncertain significance |
| rs1479582011 | 2:238,234,247 | T/C | — | uncertain significance |
| rs138694883 | 2:238,234,251 | C/T | — | conflicting classifications of pathogenicity |
| rs144291325 | 2:238,234,252 | G/A | — | conflicting classifications of pathogenicity |
| rs1298274655 | 2:238,234,255 | T/C | — | likely benign |
| rs1446752971 | 2:238,234,261 | A/G | — | likely benign |
| rs886042448 | 2:238,234,278 | A/C | — | uncertain significance |
| rs1215789317 | 2:238,234,279 | T/C | — | likely benign |
| rs1699900051 | 2:238,234,280 | C/T | — | uncertain significance |
| rs112290343 | 2:238,234,285 | A/G | — | likely benign |
| rs759514583 | 2:238,234,289 | C/T | — | likely benign |
| rs2469765458 | 2:238,234,295 | G/A | — | uncertain significance |
| rs1699901008 | 2:238,234,298 | T/C | — | uncertain significance |
| rs147533489 | 2:238,234,302 | G/A | — | conflicting classifications of pathogenicity |
| rs763209806 | 2:238,234,305 | C/T | — | uncertain significance |
| rs1405374416 | 2:238,234,312 | C/T | — | pathogenic |
| rs2106299111 | 2:238,234,314 | A/C | — | uncertain significance |
| rs751270381 | 2:238,234,316 | T/C | — | likely benign |
| rs1385929254 | 2:238,234,322 | A/G | — | likely benign |
| rs141050617 | 2:238,234,338 | T/G | — | conflicting classifications of pathogenicity |
| rs755613566 | 2:238,234,344 | C/T | — | uncertain significance |
| rs148821986 | 2:238,234,345 | G/A | — | conflicting classifications of pathogenicity |
| rs748814297 | 2:238,234,351 | C/T | — | conflicting classifications of pathogenicity |
| rs138109666 | 2:238,234,352 | G/A | — | conflicting classifications of pathogenicity |
| rs113422196 | 2:238,234,357 | C/T | — | conflicting classifications of pathogenicity |
| rs2469765613 | 2:238,234,362 | A/G | — | uncertain significance |
| rs771376763 | 2:238,234,364 | A/G | — | uncertain significance |
| rs1057524148 | 2:238,234,366 | A/T | — | uncertain significance |
| rs2469765630 | 2:238,234,367 | T/G | — | uncertain significance |
| rs199800564 | 2:238,234,371 | T/A | — | likely benign |
| rs746455003 | 2:238,234,374 | T/A | — | likely benign |
| rs770436782 | 2:238,234,375 | A/G | — | likely benign |
| rs775663087 | 2:238,234,381 | A/T | — | uncertain significance |
| rs763154559 | 2:238,234,385 | G/T | — | likely benign |
| rs398124137 | 2:238,234,400 | G/A | — | conflicting classifications of pathogenicity |
| rs75561681 | 2:238,241,881 | G/T | — | benign |
| rs770383420 | 2:238,242,085 | C/A | — | likely benign |
| rs1700370715 | 2:238,242,090 | C/T | — | uncertain significance |
| rs1700370925 | 2:238,242,095 | G/A | — | uncertain significance |
| rs112455407 | 2:238,242,105 | G/A | — | likely benign |
| rs749353897 | 2:238,242,111 | A/G | — | likely benign |
| rs1288932366 | 2:238,242,113 | G/T | — | uncertain significance |
| rs957608376 | 2:238,242,118 | T/C | — | likely benign |
| rs886042363 | 2:238,242,131 | A/G | — | uncertain significance |
| rs1064796356 | 2:238,242,137 | A/G | — | uncertain significance |
| rs1700373011 | 2:238,242,140 | G/A | — | uncertain significance |
| rs1468004640 | 2:238,242,171 | G/A | — | uncertain significance |
| rs77368269 | 2:238,242,172 | A/T | — | likely benign |
| rs760496428 | 2:238,242,173 | G/T | — | uncertain significance |
| rs2469784464 | 2:238,242,174 | G/A | — | uncertain significance |
| rs182976977 | 2:238,242,176 | G/C | missense variant | pathogenic |
| rs1700374826 | 2:238,242,180 | G/A | — | uncertain significance |
| rs946842388 | 2:238,242,190 | C/A | — | uncertain significance |
| rs971398848 | 2:238,242,192 | C/T | — | likely pathogenic |
| rs1559190144 | 2:238,242,195 | T/C | — | conflicting classifications of pathogenicity |
Showing 100 of 2,882 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.