ATG16L1
autophagy related 16 like 1
Summary
The protein encoded by this gene is part of a large protein complex that is necessary for autophagy, the major process by which intracellular components are targeted to lysosomes for degradation. Defects in this gene are a cause of susceptibility to inflammatory bowel disease type 10 (IBD10). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2010]
Known Variants47 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs10210302 | 2:234,158,839 | C/T | upstream gene variant | — |
| rs539735288 | 2:234,159,932 | G/A | — | — |
| rs113377061 | 2:234,160,533 | A/G | — | likely benign |
| rs770204917 | 2:234,164,758 | G/T | — | uncertain significance |
| rs764415292 | 2:234,164,771 | G/C | — | uncertain significance |
| rs373586724 | 2:234,164,789 | G/T | — | uncertain significance |
| rs757564400 | 2:234,164,819 | G/A | — | likely benign |
| rs370625278 | 2:234,165,738 | C/T | — | — |
| rs794727513 | 2:234,171,786 | G/A | — | uncertain significance |
| rs12994997 | 2:234,173,503 | G/A | intron variant | — |
| rs775043053 | 2:234,173,557 | A/T | — | uncertain significance |
| rs774397068 | 2:234,173,576 | C/T | — | uncertain significance |
| rs1408101565 | 2:234,173,662 | A/G | — | uncertain significance |
| rs574239804 | 2:234,173,700 | G/A | — | likely benign |
| rs115732365 | 2:234,178,662 | G/A | — | likely benign |
| rs3828309 | 2:234,180,410 | A/C | — | — |
| rs373044901 | 2:234,183,356 | G/A | — | uncertain significance |
| rs2241880 | 2:234,183,368 | A/G | missense variant | risk factor |
| rs2241879 | 2:234,183,468 | G/A | upstream gene variant | — |
| rs2241878 | 2:234,183,718 | T/C | upstream gene variant | — |
| rs3792109 | 2:234,184,417 | G/A | coding sequence variant | — |
| rs36001488 | 2:234,185,267 | C/G | — | — |
| rs72976321 | 2:234,185,539 | C/T | downstream gene variant | — |
| rs2469630293 | 2:234,189,764 | C/G | — | uncertain significance |
| rs1359314594 | 2:234,189,772 | C/T | — | uncertain significance |
| rs2469630535 | 2:234,189,792 | G/A | — | uncertain significance |
| rs7587633 | 2:234,190,049 | T/G | — | — |
| rs3792106 | 2:234,190,740 | T/C | intron variant | — |
| rs117809958 | 2:234,191,103 | T/A | intron variant | — |
| rs2469639657 | 2:234,191,346 | G/A | — | uncertain significance |
| rs2278610 | 2:234,191,530 | T/C | — | — |
| rs4663402 | 2:234,193,663 | A/T | upstream gene variant | — |
| rs13005285 | 2:234,194,957 | T/G | upstream gene variant | — |
| rs751543614 | 2:234,198,558 | C/T | — | uncertain significance |
| rs202029236 | 2:234,198,580 | C/T | — | likely benign |
| rs6754677 | 2:234,199,461 | G/C | — | — |
| rs2469696948 | 2:234,200,890 | A/G | — | uncertain significance |
| rs2469696958 | 2:234,200,892 | C/T | — | uncertain significance |
| rs768289250 | 2:234,200,904 | G/A | — | uncertain significance |
| rs774012550 | 2:234,200,907 | A/G | — | likely benign |
| rs1381021124 | 2:234,201,052 | G/A | — | uncertain significance |
| rs758048364 | 2:234,201,913 | G/A | — | uncertain significance |
| rs1340396497 | 2:234,201,983 | G/C | — | uncertain significance |
| rs756788551 | 2:234,202,923 | C/T | — | uncertain significance |
| rs769189002 | 2:234,202,931 | C/T | — | uncertain significance |
| rs199749659 | 2:234,202,951 | C/T | — | likely benign |
| rs36045386 | 2:234,202,960 | C/T | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.