XRCC4
X-ray repair cross complementing 4
Summary
The protein encoded by this gene functions together with DNA ligase IV and the DNA-dependent protein kinase in the repair of DNA double-strand breaks. This protein plays a role in both non-homologous end joining and the completion of V(D)J recombination. Mutations in this gene can cause short stature, microcephaly, and endocrine dysfunction (SSMED). Alternate transcript variants such as NM_022406 are unlikely to be expressed in some individuals due to a polymorphism (rs1805377) in the last splice acceptor site. [provided by RefSeq, Oct 2019]
Known Variants131 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs7727691 | 5:82,371,695 | C/T | upstream gene variant | — |
| rs6869366 | 5:82,371,746 | T/G | upstream gene variant | — |
| rs2075685 | 5:82,372,665 | G/T | regulatory region variant | — |
| rs2075686 | 5:82,372,746 | C/T | regulatory region variant | — |
| rs1478486 | 5:82,377,004 | G/A | upstream gene variant | — |
| rs10473864 | 5:82,390,731 | A/T | intron variant | — |
| rs9293329 | 5:82,396,587 | G/A | intron variant | — |
| rs869320678 | 5:82,400,728 | G/T | — | pathogenic |
| rs1166890864 | 5:82,400,749 | A/G | — | uncertain significance |
| rs28383138 | 5:82,400,773 | C/G | — | likely benign |
| rs550773308 | 5:82,400,818 | C/T | — | uncertain significance |
| rs370291437 | 5:82,400,864 | A/G | — | likely benign |
| rs587779351 | 5:82,400,865 | T/A | missense variant | pathogenic |
| rs1360560323 | 5:82,400,870 | T/C | — | likely benign |
| rs373131654 | 5:82,400,884 | C/T | — | likely benign |
| rs1746133004 | 5:82,400,885 | T/C | — | likely benign |
| rs761781700 | 5:82,400,895 | G/C | — | likely benign |
| rs1746134429 | 5:82,400,897 | T/A | — | likely benign |
| rs375480555 | 5:82,406,832 | T/C | — | likely benign |
| rs2479278448 | 5:82,406,833 | A/G | — | likely benign |
| rs920101925 | 5:82,406,834 | A/G | — | uncertain significance |
| rs143971157 | 5:82,406,843 | A/G | — | likely benign |
| rs1746416323 | 5:82,406,845 | A/G | — | likely pathogenic |
| rs1219764100 | 5:82,406,866 | C/T | — | likely benign |
| rs28383151 | 5:82,406,873 | G/A | missense variant | uncertain significance |
| rs367623160 | 5:82,406,878 | T/C | — | likely benign |
| rs545670116 | 5:82,406,888 | A/G | — | uncertain significance |
| rs760546308 | 5:82,406,889 | T/C | — | uncertain significance |
| rs1369565470 | 5:82,406,890 | G/T | — | uncertain significance |
| rs780274130 | 5:82,406,905 | T/C | — | likely benign |
| rs371307071 | 5:82,406,919 | G/C | — | uncertain significance |
| rs61762970 | 5:82,406,931 | T/C | — | likely benign |
| rs528259464 | 5:82,406,940 | C/T | — | uncertain significance |
| rs757644947 | 5:82,406,945 | C/T | — | uncertain significance |
| rs2112400629 | 5:82,406,948 | G/A | — | uncertain significance |
| rs879255258 | 5:82,406,953 | T/G | missense variant | pathogenic |
| rs756247552 | 5:82,406,961 | C/T | — | uncertain significance |
| rs780318044 | 5:82,406,962 | G/A | — | likely benign |
| rs149355996 | 5:82,406,966 | A/T | — | uncertain significance |
| rs540170535 | 5:82,406,983 | T/C | — | likely benign |
| rs1184763400 | 5:82,406,993 | T/A | — | uncertain significance |
| rs144653114 | 5:82,407,014 | G/A | — | benign |
| rs55863017 | 5:82,407,063 | G/A | — | benign |
| rs1478482 | 5:82,407,098 | G/A | — | benign |
| rs1478481 | 5:82,407,105 | A/G | — | benign |
| rs28383152 | 5:82,407,115 | C/T | — | benign |
| rs10473868 | 5:82,437,447 | G/A | intron variant | — |
| rs1382368 | 5:82,451,075 | C/T | intron variant | — |
| rs10040363 | 5:82,473,645 | A/G | intron variant | — |
| rs372233062 | 5:82,491,569 | A/G | — | benign |
| rs569866848 | 5:82,491,584 | T/C | — | benign |
| rs779089743 | 5:82,491,592 | A/C | — | likely benign |
| rs2112700693 | 5:82,491,595 | C/T | — | uncertain significance |
| rs375157105 | 5:82,491,628 | C/A | — | uncertain significance |
| rs768175717 | 5:82,491,629 | C/T | — | uncertain significance |
| rs2112700957 | 5:82,491,633 | T/C | — | likely benign |
| rs1750912626 | 5:82,491,637 | G/A | — | uncertain significance |
| rs1456939421 | 5:82,491,639 | C/A | — | likely benign |
| rs948372963 | 5:82,491,645 | A/G | — | likely benign |
| rs1750915225 | 5:82,491,668 | A/G | — | uncertain significance |
| rs28360135 | 5:82,491,674 | T/C | — | likely benign |
| rs1384832919 | 5:82,491,682 | A/G | — | uncertain significance |
| rs56334522 | 5:82,491,684 | T/G | — | likely benign |
| rs28360136 | 5:82,491,697 | G/C | — | benign |
| rs2479842884 | 5:82,491,699 | G/A | — | likely benign |
| rs1750918700 | 5:82,491,709 | A/G | — | uncertain significance |
| rs1275915658 | 5:82,491,713 | A/G | — | uncertain significance |
| rs757278630 | 5:82,491,722 | G/A | — | uncertain significance |
| rs1277864722 | 5:82,491,731 | G/A | — | uncertain significance |
| rs779773463 | 5:82,491,754 | C/T | stop gained | pathogenic |
| rs797045017 | 5:82,491,755 | G/A | missense variant | pathogenic |
| rs2662238 | 5:82,499,307 | G/A | — | benign |
| rs199551802 | 5:82,499,356 | T/G | — | likely benign |
| rs1328781236 | 5:82,499,367 | T/A | — | likely benign |
| rs140143447 | 5:82,499,423 | C/T | — | uncertain significance |
| rs2112728512 | 5:82,499,435 | G/A | — | uncertain significance |
| rs2479871443 | 5:82,499,449 | G/T | — | uncertain significance |
| rs2479871456 | 5:82,499,450 | A/G | — | uncertain significance |
| rs2479871631 | 5:82,499,466 | G/C | — | uncertain significance |
| rs2112728651 | 5:82,499,470 | G/A | — | likely benign |
| rs1173748737 | 5:82,499,472 | A/G | — | uncertain significance |
| rs1458486332 | 5:82,499,478 | A/G | — | uncertain significance |
| rs991596636 | 5:82,499,516 | A/T | — | likely pathogenic |
| rs201604424 | 5:82,499,517 | A/G | — | uncertain significance |
| rs746319682 | 5:82,499,534 | C/T | — | likely benign |
| rs775884840 | 5:82,499,537 | T/C | — | likely benign |
| rs763122507 | 5:82,499,538 | A/G | — | likely benign |
| rs17284358 | 5:82,499,713 | T/G | — | likely benign |
| rs921101939 | 5:82,500,616 | A/G | — | likely benign |
| rs2112732877 | 5:82,500,619 | T/A | — | likely benign |
| rs780802180 | 5:82,500,627 | T/C | — | likely benign |
| rs746407658 | 5:82,500,635 | G/A | — | uncertain significance |
| rs969467594 | 5:82,500,639 | C/G | — | uncertain significance |
| rs1348464342 | 5:82,500,644 | A/G | — | uncertain significance |
| rs768825050 | 5:82,500,668 | C/T | stop gained | pathogenic |
| rs1580368052 | 5:82,500,670 | A/G | — | likely benign |
| rs1487140838 | 5:82,500,694 | T/G | — | likely benign |
| rs762812825 | 5:82,500,701 | G/A | — | uncertain significance |
| rs2479877517 | 5:82,500,733 | G/A | — | likely benign |
| rs3734091 | 5:82,500,734 | G/T | missense variant | benign |
Showing 100 of 131 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.