COL22A1

collagen type XXII alpha 1 chain

Summary

This gene encodes member of the collagen family which is thought to contribute to the stabilization of myotendinous junctions and strengthen skeletal muscle attachments during contractile activity. It belongs to the fibril-associated collagens with interrupted triple helix (FACIT) subset of the collagen superfamily, which associate with collagen fibers through their C-terminal collagenous domains and mediate protein-protein interactions through their N-terminal noncollagenous domains. The encoded protein is deposited in the basement membrane zone of the myotendinous junction which is present only at the tissue junctions of muscles, tendons, the heart, articular cartilage, and skin. A knockdown of the orthologous zebrafish gene induces a muscular dystrophy by disruption of the myotendinous junction. [provided by RefSeq, May 2017]

Known Variants146 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1485949988:139,601,518G/A—uncertain significance
rs9630122768:139,601,543A/G—uncertain significance
rs7588694098:139,601,590G/A—uncertain significance
rs1432812238:139,601,635G/A—uncertain significance
rs3685339208:139,601,675C/T—uncertain significance
rs5315097618:139,606,324C/A—uncertain significance
rs9313047588:139,606,332C/T—uncertain significance
rs1491188578:139,606,362G/A—uncertain significance
rs7756114248:139,606,365G/A—uncertain significance
rs12283548308:139,606,381T/G—uncertain significance
rs727278148:139,606,427A/T—likely benign
rs7762334358:139,609,182C/T—uncertain significance
rs9216275478:139,610,967G/C—uncertain significance
rs1415138348:139,611,038G/A—uncertain significance
rs25384473958:139,611,055G/C—uncertain significance
rs7494933328:139,618,634C/T—uncertain significance
rs7689099838:139,618,635G/A—uncertain significance
rs7603957948:139,618,671T/G—uncertain significance
rs1496445998:139,620,199G/T—uncertain significance
rs25384981938:139,620,228T/C—uncertain significance
rs10337562258:139,626,112G/T—uncertain significance
rs7567481108:139,629,158C/T—uncertain significance
rs2006319778:139,629,176G/C—uncertain significance
rs3676520328:139,631,730G/C—uncertain significance
rs13134112598:139,635,995G/A—uncertain significance
rs5334802618:139,636,013C/T—uncertain significance
rs7679262228:139,638,443G/T—uncertain significance
rs1426038278:139,638,453A/G—uncertain significance
rs5494243898:139,642,967C/A—uncertain significance
rs18210341298:139,647,300G/A—uncertain significance
rs1464420888:139,649,000C/T—benign
rs1489607878:139,649,022C/T—uncertain significance
rs18222263998:139,658,888C/A—uncertain significance
rs9217594268:139,658,912G/A—uncertain significance
rs18225182978:139,661,909T/G—uncertain significance
rs7813817768:139,661,945G/C—uncertain significance
rs7701008688:139,662,003G/A—uncertain significance
rs757688228:139,662,021C/T—conflicting classifications of pathogenicity
rs3721596998:139,668,160C/T—uncertain significance
rs5620040328:139,668,171A/G—uncertain significance
rs1172563958:139,672,708G/C—likely benign
rs1461904758:139,674,277C/T—likely benign
rs5456602908:139,688,805G/C—uncertain significance
rs14652020888:139,688,832C/T—uncertain significance
rs7695589108:139,688,856A/G—uncertain significance
rs24886677108:139,696,687G/C—uncertain significance
rs15641899438:139,696,688G/A—uncertain significance
rs1512526418:139,696,705C/T—uncertain significance
rs7757763558:139,696,711C/T—uncertain significance
rs7571639488:139,697,479G/A—uncertain significance
rs12386330578:139,706,752G/A—uncertain significance
rs3745592458:139,707,092C/T—uncertain significance
rs1385527518:139,707,109G/T—uncertain significance
rs2003849828:139,712,362C/T—uncertain significance
rs5325548328:139,727,935C/T—uncertain significance
rs7508972588:139,728,514C/A—uncertain significance
rs7772606388:139,732,993G/A—uncertain significance
rs7804004148:139,734,284T/C—uncertain significance
rs1141827678:139,734,292G/A—benign
rs24889770858:139,736,888G/C—uncertain significance
rs7542212768:139,736,890A/T—uncertain significance
rs1421757258:139,736,897C/A—benign
rs1504832538:139,736,901C/G—uncertain significance
rs11613049708:139,737,652G/A—uncertain significance
rs7811585848:139,737,673C/T—uncertain significance
rs7745892628:139,749,795G/A—uncertain significance
rs3697641528:139,749,796G/A—uncertain significance
rs7664728408:139,749,804A/C—uncertain significance
rs7644958458:139,763,702C/G—uncertain significance
rs1895703338:139,763,730C/T—uncertain significance
rs24891865148:139,763,739C/G—uncertain significance
rs7478618118:139,763,751G/A—uncertain significance
rs7566309628:139,767,417C/G—uncertain significance
rs7689034558:139,767,423C/A—uncertain significance
rs7490515068:139,768,066C/T—uncertain significance
rs24892626638:139,774,667T/G—uncertain significance
rs1473944438:139,774,684G/A—uncertain significance
rs7765923648:139,790,622C/T—uncertain significance
rs7739837178:139,791,752C/T—uncertain significance
rs1499783878:139,791,771G/A—uncertain significance
rs24893994158:139,791,792T/A—uncertain significance
rs1442441808:139,793,173C/T—uncertain significance
rs9420632058:139,793,183C/T—uncertain significance
rs1400570248:139,793,199G/T—uncertain significance
rs7527127158:139,793,222C/T—uncertain significance
rs3716984638:139,815,155G/A—likely benign
rs2017765308:139,815,167C/T—uncertain significance
rs24898199428:139,815,176C/T—uncertain significance
rs7523574818:139,824,067T/C—uncertain significance
rs2002453778:139,824,115C/T—likely benign
rs8679254958:139,824,152C/T—uncertain significance
rs10400049858:139,825,186C/A—uncertain significance
rs2012891408:139,825,220C/T—uncertain significance
rs1478186208:139,825,221G/A—likely benign
rs7570035638:139,825,228G/A—uncertain significance
rs1380569198:139,825,231T/C—uncertain significance
rs1436142018:139,825,249C/A—uncertain significance
rs1413629788:139,833,387G/A—uncertain significance
rs7642473458:139,833,407T/C—uncertain significance
rs1400253118:139,833,447G/C—uncertain significance

Showing 100 of 146 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.