KEL
Kell metallo-endopeptidase (Kell blood group)
Summary
This gene encodes a type II transmembrane glycoprotein that is the highly polymorphic Kell blood group antigen. The Kell glycoprotein links via a single disulfide bond to the XK membrane protein that carries the Kx antigen. The encoded protein contains sequence and structural similarity to members of the neprilysin (M13) family of zinc endopeptidases. [provided by RefSeq, Jul 2008]
Known Variants68 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs201835469 | 7:142,638,355 | C/A | — | uncertain significance |
| rs566566734 | 7:142,638,392 | G/A | — | uncertain significance |
| rs370926722 | 7:142,638,397 | T/A | — | uncertain significance |
| rs144264665 | 7:142,638,432 | G/A | — | likely benign |
| rs758657888 | 7:142,638,452 | G/A | — | uncertain significance |
| rs144613404 | 7:142,638,473 | C/A | — | uncertain significance |
| rs751310423 | 7:142,639,553 | G/T | — | uncertain significance |
| rs868367052 | 7:142,639,616 | C/T | — | uncertain significance |
| rs147851584 | 7:142,639,969 | G/A | — | affects |
| rs767499938 | 7:142,639,970 | C/A | — | uncertain significance |
| rs8176039 | 7:142,640,004 | T/C | — | benign |
| rs2486336694 | 7:142,640,068 | T/C | — | uncertain significance |
| rs8176038 | 7:142,640,113 | A/G | missense variant | pathogenic |
| rs1300688433 | 7:142,640,372 | A/G | — | uncertain significance |
| rs767893228 | 7:142,640,414 | C/T | — | uncertain significance |
| rs573103646 | 7:142,640,568 | C/T | — | likely benign |
| rs8176036 | 7:142,640,596 | T/G | — | benign |
| rs549070520 | 7:142,640,643 | C/A | — | uncertain significance |
| rs530961865 | 7:142,640,661 | C/T | — | likely benign |
| rs150678405 | 7:142,640,676 | C/T | — | uncertain significance |
| rs8176035 | 7:142,640,687 | T/A | — | benign |
| rs374670117 | 7:142,640,880 | G/T | — | uncertain significance |
| rs8176034 | 7:142,640,916 | G/T | — | benign |
| rs143144958 | 7:142,640,924 | C/T | — | uncertain significance |
| rs369799431 | 7:142,641,414 | T/C | — | uncertain significance |
| rs61729032 | 7:142,641,420 | T/A | — | likely benign |
| rs745934418 | 7:142,641,753 | T/C | — | uncertain significance |
| rs1003983062 | 7:142,641,797 | G/T | — | uncertain significance |
| rs150993188 | 7:142,641,809 | G/A | — | uncertain significance |
| rs199731371 | 7:142,643,301 | C/T | — | likely benign |
| rs140212054 | 7:142,643,345 | C/T | — | likely benign |
| rs145286883 | 7:142,643,346 | G/A | — | uncertain significance |
| rs779858065 | 7:142,643,404 | G/T | — | uncertain significance |
| rs138550257 | 7:142,643,408 | T/C | — | likely benign |
| rs766098614 | 7:142,649,621 | C/T | — | uncertain significance |
| rs771458379 | 7:142,649,649 | C/T | — | uncertain significance |
| rs1172605169 | 7:142,650,917 | C/T | — | uncertain significance |
| rs374644780 | 7:142,650,962 | C/T | — | likely benign |
| rs150622556 | 7:142,650,963 | G/A | — | likely benign |
| rs751284993 | 7:142,650,991 | G/T | — | uncertain significance |
| rs8175995 | 7:142,650,996 | G/A | — | benign |
| rs980885552 | 7:142,651,007 | G/A | — | association |
| rs374530605 | 7:142,651,025 | C/T | — | uncertain significance |
| rs537189264 | 7:142,651,327 | C/G | — | uncertain significance |
| rs2486382678 | 7:142,651,343 | C/A | — | uncertain significance |
| rs8176059 | 7:142,651,354 | G/A | missense variant | — |
| rs150259463 | 7:142,651,363 | T/G | — | uncertain significance |
| rs2116679831 | 7:142,654,929 | G/T | — | uncertain significance |
| rs2116680039 | 7:142,654,982 | C/T | — | association |
| rs760539605 | 7:142,655,000 | G/C | — | uncertain significance |
| rs8176058 | 7:142,655,008 | G/A | missense variant | benign |
| rs754663945 | 7:142,655,011 | C/T | — | affects |
| rs747437444 | 7:142,655,048 | G/A | — | uncertain significance |
| rs775291117 | 7:142,655,422 | C/G | — | uncertain significance |
| rs372570041 | 7:142,655,444 | T/C | — | uncertain significance |
| rs143932021 | 7:142,655,450 | T/C | — | uncertain significance |
| rs2486396350 | 7:142,655,473 | G/C | — | uncertain significance |
| rs1796939367 | 7:142,658,014 | C/T | — | pathogenic |
| rs148292067 | 7:142,658,081 | T/C | — | uncertain significance |
| rs2116352107 | 7:142,658,119 | G/T | — | uncertain significance |
| rs777011308 | 7:142,658,158 | C/T | — | affects |
| rs369569464 | 7:142,658,446 | C/T | splice region variant | pathogenic |
| rs555647000 | 7:142,658,473 | A/C | — | uncertain significance |
| rs780610965 | 7:142,658,506 | A/G | — | uncertain significance |
| rs370130119 | 7:142,658,530 | C/G | — | uncertain significance |
| rs779778092 | 7:142,658,887 | G/C | — | uncertain significance |
| rs778690447 | 7:142,658,933 | C/G | — | uncertain significance |
| rs118063764 | 7:142,661,063 | C/T | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.