COL21A1
collagen type XXI alpha 1 chain
Summary
This gene encodes the alpha chain of type XXI collagen, a member of the FACIT (fibril-associated collagens with interrupted helices) collagen family. Type XXI collagen is localized to tissues containing type I collagen and maintains the integrity of the extracellular matrix. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Known Variants72 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs753959414 | 6:55,922,493 | C/A | — | uncertain significance |
| rs867859797 | 6:55,922,631 | G/C | — | uncertain significance |
| rs185079637 | 6:55,923,967 | G/A | — | benign |
| rs200478915 | 6:55,923,968 | G/C | — | uncertain significance |
| rs2482233673 | 6:55,924,852 | C/T | — | uncertain significance |
| rs774578418 | 6:55,924,883 | C/A | — | uncertain significance |
| rs2482252643 | 6:55,925,756 | G/A | — | uncertain significance |
| rs561341748 | 6:55,925,793 | A/G | — | likely benign |
| rs1447839343 | 6:55,926,460 | C/T | — | uncertain significance |
| rs764373276 | 6:55,926,463 | T/C | — | uncertain significance |
| rs2482300909 | 6:55,929,396 | G/T | — | uncertain significance |
| rs763112285 | 6:55,933,860 | C/T | — | uncertain significance |
| rs757963308 | 6:55,933,903 | C/T | — | uncertain significance |
| rs199910287 | 6:55,935,556 | G/A | — | uncertain significance |
| rs200999181 | 6:55,935,568 | C/A | — | uncertain significance |
| rs1313458713 | 6:55,940,302 | C/T | — | uncertain significance |
| rs199979695 | 6:55,940,318 | G/A | — | uncertain significance |
| rs1482588551 | 6:55,942,328 | T/G | — | uncertain significance |
| rs775239489 | 6:55,942,337 | A/G | — | uncertain significance |
| rs374478013 | 6:55,942,365 | G/A | — | uncertain significance |
| rs10948971 | 6:55,949,029 | A/T | intron variant | — |
| rs12196860 | 6:55,950,374 | G/A | intron variant | — |
| rs192244210 | 6:55,988,870 | G/C | — | benign |
| rs202115077 | 6:55,988,871 | G/A | — | uncertain significance |
| rs774696575 | 6:55,988,883 | A/T | — | uncertain significance |
| rs377190560 | 6:55,989,039 | C/A | — | uncertain significance |
| rs1256589081 | 6:55,989,041 | G/T | — | uncertain significance |
| rs761932615 | 6:55,989,089 | C/A | — | uncertain significance |
| rs373582305 | 6:55,990,942 | A/T | — | uncertain significance |
| rs1259722031 | 6:56,006,603 | G/A | — | uncertain significance |
| rs201267383 | 6:56,006,611 | T/C | — | uncertain significance |
| rs2481505287 | 6:56,006,735 | C/T | — | uncertain significance |
| rs1775784979 | 6:56,021,714 | G/C | — | uncertain significance |
| rs529924012 | 6:56,029,249 | G/A | — | uncertain significance |
| rs1215461727 | 6:56,031,781 | A/G | — | uncertain significance |
| rs573505176 | 6:56,032,927 | C/G | — | uncertain significance |
| rs2481679881 | 6:56,033,013 | A/G | — | uncertain significance |
| rs1040526013 | 6:56,033,064 | C/T | — | uncertain significance |
| rs376790550 | 6:56,035,599 | T/G | — | uncertain significance |
| rs2764043 | 6:56,035,643 | A/G | missense variant | — |
| rs764980509 | 6:56,035,768 | C/G | — | uncertain significance |
| rs746504870 | 6:56,035,851 | A/G | — | uncertain significance |
| rs200708113 | 6:56,035,881 | C/T | — | likely benign |
| rs1451095162 | 6:56,035,911 | G/T | — | uncertain significance |
| rs2481696365 | 6:56,035,916 | A/C | — | uncertain significance |
| rs188336299 | 6:56,037,020 | A/G | intron variant | — |
| rs572669773 | 6:56,044,491 | T/G | — | uncertain significance |
| rs779058776 | 6:56,044,499 | C/T | — | uncertain significance |
| rs367830538 | 6:56,044,517 | C/G | — | uncertain significance |
| rs1314451383 | 6:56,044,538 | C/T | — | uncertain significance |
| rs372065490 | 6:56,044,588 | G/A | — | uncertain significance |
| rs1009121320 | 6:56,044,643 | C/A | — | uncertain significance |
| rs1368717968 | 6:56,044,697 | T/G | — | uncertain significance |
| rs777772961 | 6:56,044,703 | C/T | — | uncertain significance |
| rs959481391 | 6:56,044,922 | G/A | — | uncertain significance |
| rs61738362 | 6:56,047,408 | G/C | — | uncertain significance |
| rs6459130 | 6:56,055,564 | G/A | — | — |
| rs3899394 | 6:56,060,844 | G/C | — | — |
| rs1474698 | 6:56,064,197 | C/T | intron variant | — |
| rs4712120 | 6:56,092,916 | G/T | intron variant | — |
| rs4140574 | 6:56,099,424 | T/A | intron variant | — |
| rs551489368 | 6:56,104,404 | T/C | — | — |
| rs201359678 | 6:56,110,904 | G/A | — | — |
| rs2745367 | 6:56,112,343 | C/G | regulatory region variant | — |
| rs555682721 | 6:56,138,669 | T/A | — | — |
| rs9464374 | 6:56,165,434 | T/A | — | — |
| rs9357910 | 6:56,187,681 | T/A | — | — |
| rs9475677 | 6:56,209,251 | G/A | intron variant | — |
| rs16887812 | 6:56,210,764 | C/T | intron variant | — |
| rs79354229 | 6:56,222,151 | C/T | intron variant | — |
| rs9370527 | 6:56,245,812 | G/C | — | — |
| rs1008768 | 6:56,247,614 | C/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.