COL8A1
collagen type VIII alpha 1 chain
Summary
This gene encodes one of the two alpha chains of type VIII collagen. The gene product is a short chain collagen and a major component of the basement membrane of the corneal endothelium. The type VIII collagen fibril can be either a homo- or a heterotrimer. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Dec 2011]
Known Variants44 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs80217917 | 3:99,359,368 | T/C | regulatory region variant | — |
| rs34578241 | 3:99,377,999 | T/C | regulatory region variant | — |
| rs62281832 | 3:99,378,077 | G/T | — | — |
| rs13095226 | 3:99,396,272 | T/C | intron variant | — |
| rs681819 | 3:99,414,198 | G/A | upstream gene variant | — |
| rs73860416 | 3:99,440,556 | C/T | — | — |
| rs13099452 | 3:99,444,421 | T/A | — | — |
| rs13081855 | 3:99,481,539 | G/T | intron variant | not provided |
| rs793487 | 3:99,495,422 | A/C | intron variant | — |
| rs141663544 | 3:99,505,585 | C/T | intron variant | — |
| rs779290263 | 3:99,509,540 | C/A | — | uncertain significance |
| rs1559637200 | 3:99,509,647 | C/T | — | uncertain significance |
| rs374141404 | 3:99,509,710 | C/T | — | uncertain significance |
| rs757303453 | 3:99,509,732 | C/T | — | uncertain significance |
| rs1941987950 | 3:99,509,739 | C/A | — | likely benign |
| rs2472289105 | 3:99,509,800 | G/A | — | uncertain significance |
| rs149828928 | 3:99,509,810 | C/T | — | uncertain significance |
| rs144518762 | 3:99,509,813 | C/T | — | likely benign |
| rs201702692 | 3:99,509,836 | G/A | — | uncertain significance |
| rs200812293 | 3:99,509,843 | A/G | — | uncertain significance |
| rs980591241 | 3:99,513,418 | C/G | — | uncertain significance |
| rs138724036 | 3:99,513,495 | G/A | — | likely benign |
| rs778185289 | 3:99,513,605 | G/C | — | uncertain significance |
| rs369506449 | 3:99,513,646 | A/G | — | uncertain significance |
| rs756500109 | 3:99,513,818 | C/T | — | uncertain significance |
| rs199818609 | 3:99,513,973 | C/T | — | benign |
| rs2472295478 | 3:99,514,201 | G/A | — | uncertain significance |
| rs1305927711 | 3:99,514,307 | C/T | — | uncertain significance |
| rs201974811 | 3:99,514,348 | C/G | — | uncertain significance |
| rs114659746 | 3:99,514,350 | C/T | — | benign |
| rs747827412 | 3:99,514,366 | C/A | — | uncertain significance |
| rs1942087393 | 3:99,514,375 | C/G | — | uncertain significance |
| rs1942090293 | 3:99,514,517 | G/C | — | uncertain significance |
| rs764312334 | 3:99,514,520 | T/A | — | uncertain significance |
| rs1559639029 | 3:99,514,533 | A/C | — | uncertain significance |
| rs774531978 | 3:99,514,589 | T/G | — | uncertain significance |
| rs769093108 | 3:99,514,642 | G/C | — | uncertain significance |
| rs139277585 | 3:99,514,718 | C/G | — | uncertain significance |
| rs776879409 | 3:99,514,743 | C/G | — | uncertain significance |
| rs143399698 | 3:99,514,789 | A/G | — | likely benign |
| rs764675709 | 3:99,514,823 | A/T | — | uncertain significance |
| rs752303108 | 3:99,514,826 | A/C | — | uncertain significance |
| rs768709521 | 3:99,514,855 | G/A | — | uncertain significance |
| rs201960143 | 3:99,517,462 | A/G | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.