HRG
histidine rich glycoprotein
Summary
This histidine-rich glycoprotein contains two cystatin-like domains and is located in plasma and platelets. The physiological function has not been determined but it is known that the protein binds heme, dyes and divalent metal ions. The encoded protein also has a peptide that displays antimicrobial activity against C. albicans, E. coli, S. aureus, P. aeruginosa, and E. faecalis. It can inhibit rosette formation and interacts with heparin, thrombospondin and plasminogen. Two of the protein's effects, the inhibition of fibrinolysis and the reduction of inhibition of coagulation, indicate a potential prothrombotic effect. Mutations in this gene lead to thrombophilia due to abnormal histidine-rich glycoprotein levels. [provided by RefSeq, Nov 2014]
Known Variants89 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3890864 | 3:186,383,066 | G/T | — | — |
| rs141595547 | 3:186,383,882 | C/T | — | uncertain significance |
| rs148593044 | 3:186,383,892 | C/A | — | uncertain significance |
| rs142020162 | 3:186,383,901 | T/C | — | likely benign |
| rs1126720 | 3:186,383,937 | T/C | — | uncertain significance |
| rs114895145 | 3:186,383,945 | G/A | — | conflicting classifications of pathogenicity |
| rs149992908 | 3:186,383,987 | C/T | — | likely benign |
| rs147904913 | 3:186,385,543 | G/A | upstream gene variant | — |
| rs80205675 | 3:186,386,713 | T/G | — | benign |
| rs1466875254 | 3:186,386,742 | T/C | — | uncertain significance |
| rs1253087441 | 3:186,386,744 | C/T | — | likely benign |
| rs1455246341 | 3:186,386,767 | C/T | — | uncertain significance |
| rs4516605 | 3:186,386,776 | C/G | — | likely benign |
| rs761776963 | 3:186,386,811 | C/T | missense variant | pathogenic |
| rs539629653 | 3:186,386,826 | C/T | — | uncertain significance |
| rs11721235 | 3:186,387,447 | G/A | upstream gene variant | — |
| rs73886012 | 3:186,387,732 | C/T | — | benign |
| rs374953969 | 3:186,387,733 | G/A | — | uncertain significance |
| rs121918122 | 3:186,387,734 | G/A | missense variant | pathogenic |
| rs146676859 | 3:186,389,409 | C/T | — | benign |
| rs140228181 | 3:186,389,413 | C/A | — | benign |
| rs1451484043 | 3:186,389,420 | G/A | — | uncertain significance |
| rs774359835 | 3:186,389,435 | A/G | — | uncertain significance |
| rs566694448 | 3:186,389,438 | G/T | — | uncertain significance |
| rs145344471 | 3:186,389,439 | A/T | — | uncertain significance |
| rs1331739397 | 3:186,389,459 | T/A | — | uncertain significance |
| rs2473807139 | 3:186,389,492 | G/A | — | uncertain significance |
| rs10770 | 3:186,389,559 | C/T | — | benign |
| rs138389406 | 3:186,389,561 | G/C | — | uncertain significance |
| rs751218381 | 3:186,389,568 | T/C | — | uncertain significance |
| rs2473807403 | 3:186,389,570 | G/A | — | uncertain significance |
| rs114232169 | 3:186,389,769 | T/G | — | — |
| rs9856702 | 3:186,389,828 | A/G | intron variant | — |
| rs2473809119 | 3:186,390,589 | G/A | — | uncertain significance |
| rs116004251 | 3:186,390,615 | G/T | — | benign |
| rs9898 | 3:186,390,627 | C/T | missense variant | benign |
| rs2473813207 | 3:186,392,897 | C/A | — | uncertain significance |
| rs746388274 | 3:186,392,907 | C/G | — | uncertain significance |
| rs111439697 | 3:186,392,939 | C/T | — | benign |
| rs151028119 | 3:186,392,970 | C/T | — | likely benign |
| rs201213205 | 3:186,392,971 | G/A | — | uncertain significance |
| rs146147437 | 3:186,392,973 | C/A | — | uncertain significance |
| rs780950869 | 3:186,392,974 | C/A | — | uncertain significance |
| rs12493926 | 3:186,393,182 | T/A | — | — |
| rs533455246 | 3:186,393,256 | G/A | — | — |
| rs7625980 | 3:186,393,547 | T/C | intron variant | — |
| rs7614709 | 3:186,393,786 | G/A | intron variant | — |
| rs7626301 | 3:186,393,885 | T/C | intron variant | — |
| rs16860992 | 3:186,394,038 | G/T | — | — |
| rs60693099 | 3:186,394,221 | C/T | intron variant | — |
| rs2108584875 | 3:186,394,839 | C/T | — | uncertain significance |
| rs755741611 | 3:186,394,852 | A/G | — | likely benign |
| rs150522400 | 3:186,394,864 | C/T | — | uncertain significance |
| rs201491218 | 3:186,394,903 | G/A | — | likely benign |
| rs200979058 | 3:186,394,916 | C/G | — | likely benign |
| rs112861431 | 3:186,394,943 | T/C | — | benign |
| rs146771057 | 3:186,394,957 | A/T | — | likely benign |
| rs140336956 | 3:186,394,974 | G/T | — | likely benign |
| rs145482557 | 3:186,394,975 | A/C | — | likely benign |
| rs765072941 | 3:186,395,014 | C/T | — | likely benign |
| rs903824710 | 3:186,395,040 | C/T | — | uncertain significance |
| rs115876426 | 3:186,395,046 | C/T | — | likely benign |
| rs113195010 | 3:186,395,056 | C/T | — | benign |
| rs1719028200 | 3:186,395,098 | A/G | — | uncertain significance |
| rs950902026 | 3:186,395,103 | G/A | — | likely benign |
| rs2228243 | 3:186,395,113 | G/A | — | benign |
| rs115242562 | 3:186,395,145 | C/A | — | benign |
| rs533637172 | 3:186,395,267 | T/C | — | likely benign |
| rs759294339 | 3:186,395,278 | A/T | — | uncertain significance |
| rs568668981 | 3:186,395,294 | T/A | — | uncertain significance |
| rs201151195 | 3:186,395,328 | C/T | — | benign |
| rs781639533 | 3:186,395,350 | C/T | — | uncertain significance |
| rs770655221 | 3:186,395,368 | G/A | — | likely benign |
| rs767306247 | 3:186,395,383 | G/C | — | uncertain significance |
| rs376552502 | 3:186,395,395 | C/T | — | uncertain significance |
| rs2229331 | 3:186,395,400 | G/A | — | conflicting classifications of pathogenicity |
| rs529521530 | 3:186,395,416 | G/A | — | uncertain significance |
| rs540318463 | 3:186,395,419 | G/A | — | uncertain significance |
| rs1042445 | 3:186,395,436 | T/C | — | benign |
| rs1040170262 | 3:186,395,446 | A/G | — | uncertain significance |
| rs144288090 | 3:186,395,462 | A/G | — | likely benign |
| rs148716747 | 3:186,395,473 | G/A | — | likely benign |
| rs1248663917 | 3:186,395,487 | A/G | — | uncertain significance |
| rs775005977 | 3:186,395,542 | C/A | — | uncertain significance |
| rs761684924 | 3:186,395,552 | A/T | — | likely benign |
| rs1042464 | 3:186,395,572 | A/T | — | benign |
| rs146265787 | 3:186,395,591 | A/G | — | likely benign |
| rs1482994530 | 3:186,395,592 | G/T | — | uncertain significance |
| rs1394927892 | 3:186,395,653 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.