COL28A1
collagen type XXVIII alpha 1 chain
Summary
COL28A1 belongs to a class of collagens containing von Willebrand factor (VWF; MIM 613160) type A (VWFA) domains (Veit et al., 2006 [PubMed 16330543]).[supplied by OMIM, Nov 2010]
Known Variants90 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs748426949 | 7:7,398,282 | T/A | — | uncertain significance |
| rs372179491 | 7:7,398,418 | G/T | — | uncertain significance |
| rs10486158 | 7:7,399,404 | C/A | — | — |
| rs200146803 | 7:7,400,029 | C/T | — | uncertain significance |
| rs2533779667 | 7:7,400,087 | T/C | — | uncertain significance |
| rs1247823473 | 7:7,400,114 | G/A | — | uncertain significance |
| rs201746692 | 7:7,410,400 | G/C | — | uncertain significance |
| rs370241254 | 7:7,410,429 | T/A | — | uncertain significance |
| rs762837552 | 7:7,410,438 | G/A | — | uncertain significance |
| rs940994581 | 7:7,410,456 | A/C | — | uncertain significance |
| rs1003492852 | 7:7,410,499 | T/C | — | uncertain significance |
| rs61745696 | 7:7,412,892 | T/A | — | benign |
| rs1255758781 | 7:7,412,937 | T/A | — | uncertain significance |
| rs774718566 | 7:7,412,941 | C/T | — | uncertain significance |
| rs772504379 | 7:7,412,944 | C/T | — | uncertain significance |
| rs1168702134 | 7:7,412,953 | T/G | — | uncertain significance |
| rs2533851564 | 7:7,412,998 | C/T | — | uncertain significance |
| rs571848025 | 7:7,413,030 | C/T | — | uncertain significance |
| rs201410103 | 7:7,413,057 | C/T | — | likely benign |
| rs756173554 | 7:7,413,112 | C/T | — | uncertain significance |
| rs113142270 | 7:7,414,521 | T/C | intron variant | — |
| rs759469191 | 7:7,415,118 | A/C | — | uncertain significance |
| rs1159181436 | 7:7,420,313 | G/A | — | uncertain significance |
| rs114280533 | 7:7,420,329 | A/G | — | benign |
| rs2533897968 | 7:7,420,440 | A/C | — | uncertain significance |
| rs2533898064 | 7:7,420,450 | T/G | — | uncertain significance |
| rs986356220 | 7:7,421,179 | T/C | — | uncertain significance |
| rs778632121 | 7:7,421,199 | C/T | — | uncertain significance |
| rs75350369 | 7:7,421,206 | C/T | missense variant | — |
| rs184719460 | 7:7,421,212 | G/A | — | uncertain significance |
| rs769189367 | 7:7,421,224 | C/G | — | uncertain significance |
| rs138688284 | 7:7,421,237 | G/C | — | uncertain significance |
| rs577051545 | 7:7,441,928 | T/C | — | — |
| rs140078707 | 7:7,445,976 | T/G | intron variant | — |
| rs112832763 | 7:7,451,810 | C/T | — | — |
| rs370576679 | 7:7,457,509 | T/C | — | uncertain significance |
| rs752340529 | 7:7,457,516 | G/A | — | uncertain significance |
| rs2534102196 | 7:7,457,522 | C/A | — | uncertain significance |
| rs1312749178 | 7:7,457,533 | G/A | — | uncertain significance |
| rs534315505 | 7:7,459,541 | C/A | — | uncertain significance |
| rs374114085 | 7:7,472,129 | C/T | — | uncertain significance |
| rs757924188 | 7:7,472,130 | G/A | — | uncertain significance |
| rs2534183655 | 7:7,472,282 | T/C | — | uncertain significance |
| rs765583222 | 7:7,472,313 | C/T | — | uncertain significance |
| rs141222030 | 7:7,474,028 | T/C | intron variant | — |
| rs748662809 | 7:7,476,073 | T/C | — | uncertain significance |
| rs751481113 | 7:7,477,032 | C/A | — | uncertain significance |
| rs202139985 | 7:7,484,104 | A/G | — | uncertain significance |
| rs200518519 | 7:7,491,966 | C/T | — | uncertain significance |
| rs1352027854 | 7:7,491,984 | C/T | — | uncertain significance |
| rs200225645 | 7:7,493,073 | T/C | — | uncertain significance |
| rs201544798 | 7:7,493,114 | G/C | — | uncertain significance |
| rs577614330 | 7:7,493,124 | T/C | — | likely benign |
| rs201515980 | 7:7,493,163 | T/G | intron variant | — |
| rs191967922 | 7:7,495,699 | A/G | — | likely benign |
| rs757687489 | 7:7,495,701 | G/T | — | uncertain significance |
| rs1187420993 | 7:7,495,742 | C/A | — | uncertain significance |
| rs151299553 | 7:7,497,471 | T/A | intron variant | — |
| rs150182260 | 7:7,513,772 | T/C | intron variant | — |
| rs2128351165 | 7:7,514,246 | T/C | — | uncertain significance |
| rs1788958506 | 7:7,516,768 | G/C | — | uncertain significance |
| rs771884981 | 7:7,516,804 | C/T | — | uncertain significance |
| rs549830532 | 7:7,529,055 | G/C | — | uncertain significance |
| rs1461457625 | 7:7,529,069 | C/G | — | uncertain significance |
| rs141357451 | 7:7,541,530 | C/G | — | — |
| rs556033982 | 7:7,550,449 | C/A | — | — |
| rs779218224 | 7:7,550,748 | C/T | — | uncertain significance |
| rs76334274 | 7:7,550,759 | C/G | — | uncertain significance |
| rs1216080426 | 7:7,557,435 | C/G | — | uncertain significance |
| rs763080823 | 7:7,557,457 | T/A | — | uncertain significance |
| rs200904642 | 7:7,557,462 | C/T | — | uncertain significance |
| rs189957039 | 7:7,557,463 | G/A | — | likely benign |
| rs1260407868 | 7:7,559,695 | G/C | — | uncertain significance |
| rs1046911133 | 7:7,559,731 | G/A | — | uncertain significance |
| rs1013286489 | 7:7,559,739 | T/C | — | uncertain significance |
| rs78583728 | 7:7,565,395 | T/C | intron variant | — |
| rs142052462 | 7:7,565,968 | T/C | intron variant | — |
| rs141928495 | 7:7,571,062 | G/A | — | uncertain significance |
| rs1487881599 | 7:7,571,064 | A/G | — | uncertain significance |
| rs2534317580 | 7:7,571,092 | G/C | — | uncertain significance |
| rs368502041 | 7:7,571,103 | A/C | — | uncertain significance |
| rs1453635823 | 7:7,571,183 | C/T | — | uncertain significance |
| rs1782355635 | 7:7,571,186 | C/T | — | likely benign |
| rs1318776707 | 7:7,571,239 | T/C | — | uncertain significance |
| rs747927764 | 7:7,571,313 | G/A | — | uncertain significance |
| rs1383587305 | 7:7,571,415 | G/A | — | uncertain significance |
| rs17168526 | 7:7,571,420 | T/C | synonymous variant | benign |
| rs754478910 | 7:7,571,503 | C/T | — | uncertain significance |
| rs7810456 | 7:7,571,890 | C/G | — | — |
| rs199710361 | 7:7,572,406 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.