FCGR2A
Fc gamma receptor IIa
Summary
This gene encodes one member of a family of immunoglobulin Fc receptor genes found on the surface of many immune response cells. The protein encoded by this gene is a cell surface receptor found on phagocytic cells such as macrophages and neutrophils, and is involved in the process of phagocytosis and clearing of immune complexes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2008]
Known Variants48 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs553243113 | 1:161,476,161 | G/A | — | likely benign |
| rs374255678 | 1:161,476,170 | C/T | — | likely benign |
| rs9427397 | 1:161,476,204 | C/T | — | benign |
| rs9427398 | 1:161,476,205 | A/G | — | benign |
| rs148868087 | 1:161,476,227 | C/T | — | likely benign |
| rs773080023 | 1:161,476,238 | A/C | — | uncertain significance |
| rs202091810 | 1:161,476,274 | C/T | — | uncertain significance |
| rs1216522269 | 1:161,476,298 | C/T | — | uncertain significance |
| rs368359610 | 1:161,476,325 | C/T | — | uncertain significance |
| rs372790116 | 1:161,476,358 | C/T | — | uncertain significance |
| rs151051324 | 1:161,476,380 | C/T | — | likely benign |
| rs4657041 | 1:161,478,859 | T/C | upstream gene variant | — |
| rs7529425 | 1:161,479,599 | G/A | — | benign |
| rs4986941 | 1:161,479,663 | A/G | — | likely benign |
| rs1675651992 | 1:161,479,694 | C/G | — | uncertain significance |
| rs1675655979 | 1:161,479,742 | C/T | — | uncertain significance |
| rs1801274 | 1:161,479,745 | A/G | missense variant | risk factor |
| rs2526893399 | 1:161,479,759 | T/C | — | uncertain significance |
| rs571568091 | 1:161,479,859 | T/C | — | uncertain significance |
| rs748691249 | 1:161,480,630 | G/C | — | uncertain significance |
| rs372881615 | 1:161,480,639 | G/A | — | uncertain significance |
| rs11810143 | 1:161,480,649 | A/G | — | benign |
| rs138599605 | 1:161,480,652 | G/A | — | conflicting classifications of pathogenicity |
| rs561384711 | 1:161,480,675 | T/C | — | likely benign |
| rs199502630 | 1:161,480,678 | C/G | — | likely benign |
| rs1488401468 | 1:161,480,681 | C/T | — | likely benign |
| rs147892588 | 1:161,480,737 | C/T | — | benign |
| rs746278098 | 1:161,480,738 | G/A | — | likely benign |
| rs565891449 | 1:161,481,334 | C/T | — | — |
| rs373579 | 1:161,483,484 | A/C | — | — |
| rs56157533 | 1:161,483,656 | C/T | intron variant | — |
| rs759109384 | 1:161,483,718 | T/C | — | uncertain significance |
| rs409763 | 1:161,483,723 | G/A | — | uncertain significance |
| rs2446625 | 1:161,484,048 | G/A | — | — |
| rs368433 | 1:161,484,210 | T/C | intron variant | — |
| rs6427598 | 1:161,484,564 | T/A | — | — |
| rs17400517 | 1:161,485,259 | G/T | intron variant | — |
| rs72717040 | 1:161,487,452 | T/C | intron variant | — |
| rs757123488 | 1:161,487,783 | A/C | — | uncertain significance |
| rs146883516 | 1:161,487,823 | A/C | missense variant | — |
| rs12029217 | 1:161,487,863 | C/T | — | benign |
| rs753834370 | 1:161,487,879 | G/A | — | uncertain significance |
| rs148465413 | 1:161,487,927 | A/G | — | uncertain significance |
| rs2526939685 | 1:161,487,928 | G/A | — | uncertain significance |
| rs511278 | 1:161,490,896 | T/C | downstream gene variant | — |
| rs9427402 | 1:161,492,667 | G/A | — | — |
| rs10737548 | 1:161,493,545 | T/C | regulatory region variant | — |
| rs41297664 | 1:161,493,695 | G/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.