DGCR2
DiGeorge syndrome critical region gene 2
Summary
Deletions of the 22q11.2 have been associated with a wide range of developmental defects (notably DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome and isolated conotruncal cardiac defects) classified under the acronym CATCH 22. The DGCR2 gene encodes a novel putative adhesion receptor protein, which could play a role in neural crest cells migration, a process which has been proposed to be altered in DiGeorge syndrome. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
Known Variants61 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs138506410 | 22:19,026,476 | C/T | — | uncertain significance |
| rs781360920 | 22:19,026,497 | C/T | — | uncertain significance |
| rs376309095 | 22:19,026,498 | G/A | — | likely benign |
| rs146601504 | 22:19,026,506 | C/A | — | uncertain significance |
| rs141421532 | 22:19,026,556 | C/T | — | benign |
| rs367608196 | 22:19,026,557 | G/A | — | uncertain significance |
| rs150816482 | 22:19,026,559 | C/T | — | uncertain significance |
| rs139200875 | 22:19,026,560 | G/A | — | uncertain significance |
| rs781058404 | 22:19,026,614 | C/T | — | uncertain significance |
| rs769205108 | 22:19,026,625 | G/C | — | uncertain significance |
| rs775001765 | 22:19,026,626 | C/T | — | uncertain significance |
| rs1042684158 | 22:19,028,578 | G/T | — | uncertain significance |
| rs139943214 | 22:19,028,580 | C/A | — | uncertain significance |
| rs752930174 | 22:19,028,597 | G/A | — | uncertain significance |
| rs2517544766 | 22:19,028,619 | G/T | — | uncertain significance |
| rs146218436 | 22:19,028,650 | C/T | — | likely benign |
| rs200680732 | 22:19,028,694 | G/C | — | uncertain significance |
| rs545736761 | 22:19,028,735 | G/A | — | uncertain significance |
| rs763137065 | 22:19,028,744 | G/A | — | uncertain significance |
| rs1487259563 | 22:19,028,754 | C/T | — | uncertain significance |
| rs142513620 | 22:19,029,346 | C/T | — | uncertain significance |
| rs776549339 | 22:19,029,390 | C/T | — | likely benign |
| rs771571566 | 22:19,029,401 | T/C | — | uncertain significance |
| rs140698397 | 22:19,029,425 | C/T | — | uncertain significance |
| rs1191565395 | 22:19,029,455 | C/G | — | uncertain significance |
| rs2082514467 | 22:19,036,002 | C/G | — | uncertain significance |
| rs1279030277 | 22:19,036,058 | C/T | — | uncertain significance |
| rs142571317 | 22:19,036,129 | T/C | — | uncertain significance |
| rs781208704 | 22:19,044,538 | C/T | — | uncertain significance |
| rs369022238 | 22:19,044,568 | G/A | — | uncertain significance |
| rs754576418 | 22:19,044,610 | C/T | — | uncertain significance |
| rs1419080508 | 22:19,044,612 | T/C | — | uncertain significance |
| rs148321597 | 22:19,044,623 | A/C | — | benign |
| rs2238735 | 22:19,046,677 | G/A | downstream gene variant | — |
| rs200855191 | 22:19,050,719 | G/C | — | uncertain significance |
| rs780808326 | 22:19,050,736 | G/A | — | uncertain significance |
| rs1341312055 | 22:19,050,756 | C/T | — | uncertain significance |
| rs142760652 | 22:19,050,762 | G/A | — | uncertain significance |
| rs146040912 | 22:19,052,388 | C/T | — | uncertain significance |
| rs141769676 | 22:19,052,424 | C/A | — | uncertain significance |
| rs2517599420 | 22:19,052,433 | T/C | — | uncertain significance |
| rs781701325 | 22:19,052,434 | G/T | — | uncertain significance |
| rs760500814 | 22:19,052,469 | C/A | — | uncertain significance |
| rs34989463 | 22:19,052,486 | G/A | — | benign |
| rs34285832 | 22:19,052,506 | C/T | — | uncertain significance |
| rs775027822 | 22:19,052,535 | G/A | — | uncertain significance |
| rs2082732443 | 22:19,052,541 | T/C | — | uncertain significance |
| rs28434427 | 22:19,055,625 | C/T | — | uncertain significance |
| rs373833072 | 22:19,055,630 | T/A | — | uncertain significance |
| rs143951152 | 22:19,055,637 | C/T | — | uncertain significance |
| rs144182602 | 22:19,055,657 | G/A | — | uncertain significance |
| rs771474151 | 22:19,055,661 | G/T | — | uncertain significance |
| rs200490065 | 22:19,055,679 | G/A | — | uncertain significance |
| rs147748890 | 22:19,055,688 | G/A | — | uncertain significance |
| rs1430960797 | 22:19,055,720 | C/T | — | uncertain significance |
| rs7291822 | 22:19,060,403 | A/T | intron variant | — |
| rs7286581 | 22:19,060,412 | T/A | intron variant | — |
| rs183849822 | 22:19,070,140 | G/C | intron variant | — |
| rs745445280 | 22:19,076,889 | T/C | — | uncertain significance |
| rs150441373 | 22:19,109,689 | G/A | — | benign |
| rs773185885 | 22:19,109,709 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.