IRGM
immunity related GTPase M
Summary
This gene encodes a member of the p47 immunity-related GTPase family. The encoded protein may play a role in the innate immune response by regulating autophagy formation in response to intracellular pathogens. Polymorphisms that affect the normal expression of this gene are associated with a susceptibility to Crohn's disease and tuberculosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2016]
Known Variants29 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs4958842 | 5:150,224,877 | G/C | — | — |
| rs4958843 | 5:150,224,924 | T/G | — | — |
| rs4958846 | 5:150,225,138 | T/C | upstream gene variant | — |
| rs12654043 | 5:150,226,095 | A/T | — | — |
| rs9637876 | 5:150,227,425 | C/T | 5 prime UTR variant | — |
| rs1193048835 | 5:150,227,698 | A/C | — | uncertain significance |
| rs2480860167 | 5:150,227,711 | C/T | — | uncertain significance |
| rs1327432426 | 5:150,227,769 | A/G | — | uncertain significance |
| rs1473059816 | 5:150,227,797 | A/G | — | likely benign |
| rs187395700 | 5:150,227,837 | G/A | — | uncertain significance |
| rs978814079 | 5:150,227,918 | A/G | — | uncertain significance |
| rs1325800218 | 5:150,227,959 | C/T | — | uncertain significance |
| rs1358694005 | 5:150,227,960 | C/T | — | uncertain significance |
| rs72553867 | 5:150,227,966 | C/T | missense variant | — |
| rs567362649 | 5:150,227,970 | G/A | — | likely benign |
| rs758635688 | 5:150,227,984 | C/T | — | uncertain significance |
| rs10065172 | 5:150,227,998 | C/T | synonymous variant | benign |
| rs781399456 | 5:150,228,019 | C/T | — | uncertain significance |
| rs1288606899 | 5:150,228,064 | C/T | — | uncertain significance |
| rs1176193689 | 5:150,228,073 | C/T | — | uncertain significance |
| rs944754177 | 5:150,228,079 | A/G | — | uncertain significance |
| rs1020311575 | 5:150,228,082 | A/G | — | uncertain significance |
| rs1247174191 | 5:150,228,149 | G/A | — | uncertain significance |
| rs764743745 | 5:150,228,215 | G/A | — | likely benign |
| rs4958847 | 5:150,239,587 | G/A | intron variant | — |
| rs1000113 | 5:150,240,076 | C/T | regulatory region variant | — |
| rs11747270 | 5:150,258,867 | A/G | intron variant | — |
| rs1002255971 | 5:150,259,216 | T/C | — | likely benign |
| rs7714584 | 5:150,270,420 | A/G | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.