RHCE
Rh blood group CcEe antigens
Summary
The Rh blood group system is the second most clinically significant of the blood groups, second only to ABO. It is also the most polymorphic of the blood groups, with variations due to deletions, gene conversions, and missense mutations. The Rh blood group includes this gene which encodes both the RhC and RhE antigens on a single polypeptide and a second gene which encodes the RhD protein. The classification of Rh-positive and Rh-negative individuals is determined by the presence or absence of the highly immunogenic RhD protein on the surface of erythrocytes. A mutation in this gene results in amorph-type Rh-null disease. Alternative splicing of this gene results in multiple transcript variants encoding several different isoforms. [provided by RefSeq, Aug 2016]
Known Variants49 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs768629991 | 1:25,696,990 | C/T | — | uncertain significance |
| rs367825256 | 1:25,697,002 | C/T | — | uncertain significance |
| rs745529432 | 1:25,701,893 | A/G | — | likely benign |
| rs546134897 | 1:25,702,284 | T/C | — | — |
| rs621189 | 1:25,710,410 | A/T | intron variant | — |
| rs1201743248 | 1:25,712,224 | T/C | — | likely benign |
| rs1053374 | 1:25,712,250 | G/A | — | benign |
| rs781384610 | 1:25,715,468 | G/A | — | uncertain significance |
| rs1132766 | 1:25,715,474 | C/T | — | uncertain significance |
| rs200950594 | 1:25,715,487 | C/T | — | uncertain significance |
| rs1132765 | 1:25,715,490 | T/C | — | likely benign |
| rs772396610 | 1:25,715,494 | G/C | — | uncertain significance |
| rs2124414255 | 1:25,715,523 | T/C | — | affects |
| rs202115486 | 1:25,715,586 | C/T | — | uncertain significance |
| rs548044758 | 1:25,715,600 | T/C | — | uncertain significance |
| rs760938 | 1:25,715,885 | C/A | intron variant | — |
| rs636889 | 1:25,717,139 | C/T | — | — |
| rs144163296 | 1:25,717,329 | T/C | — | benign |
| rs609320 | 1:25,717,365 | C/T | missense variant | benign |
| rs2124429282 | 1:25,718,484 | C/A | — | pathogenic |
| rs760100539 | 1:25,718,562 | C/T | — | uncertain significance |
| rs679429 | 1:25,720,088 | G/C | — | — |
| rs679879 | 1:25,720,204 | G/T | upstream gene variant | — |
| rs376477778 | 1:25,724,501 | A/G | — | — |
| rs1571895555 | 1:25,729,133 | A/T | — | uncertain significance |
| rs2523299412 | 1:25,729,146 | C/G | — | uncertain significance |
| rs369664408 | 1:25,729,191 | C/T | — | uncertain significance |
| rs1053345 | 1:25,729,212 | T/A | — | likely benign |
| rs61777615 | 1:25,732,087 | G/A | — | — |
| rs28513325 | 1:25,732,548 | G/A | upstream gene variant | — |
| rs80171659 | 1:25,732,749 | T/A | coding sequence variant | — |
| rs676785 | 1:25,735,202 | G/A | missense variant | no classification for the single variant |
| rs57992529 | 1:25,735,255 | G/C | — | benign |
| rs1053344 | 1:25,735,306 | T/T | — | no classification for the single variant |
| rs181860403 | 1:25,735,331 | G/G | — | no classification for the single variant |
| rs376364569 | 1:25,735,335 | C/G | — | likely benign |
| rs760351380 | 1:25,735,350 | A/T | — | uncertain significance |
| rs78207142 | 1:25,742,694 | C/T | — | — |
| rs2982360 | 1:25,745,645 | C/G | — | — |
| rs138268848 | 1:25,747,156 | T/C | — | benign |
| rs586178 | 1:25,747,230 | G/C | missense variant | benign |
| rs778281939 | 1:25,747,247 | G/A | — | likely benign |
| rs1177155110 | 1:25,747,258 | C/T | — | uncertain significance |
| rs2072933 | 1:25,747,646 | G/A | regulatory region variant | — |
| rs538224255 | 1:25,748,521 | C/T | — | — |
| rs188282767 | 1:25,751,221 | T/C | upstream gene variant | — |
| rs909832 | 1:25,754,025 | C/G | upstream gene variant | — |
| rs142103428 | 1:25,754,472 | G/C | upstream gene variant | — |
| rs115281525 | 1:25,754,480 | C/T | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.