NIPBL
NIPBL cohesin loading factor
Summary
This gene encodes the homolog of the Drosophila melanogaster Nipped-B gene product and fungal Scc2-type sister chromatid cohesion proteins. The Drosophila protein facilitates enhancer-promoter communication of remote enhancers and plays a role in developmental regulation. It is also homologous to a family of chromosomal adherins with broad roles in sister chromatid cohesion, chromosome condensation, and DNA repair. The human protein has a bipartite nuclear targeting sequence and a putative HEAT repeat. Condensins, cohesins and other complexes with chromosome-related functions also contain HEAT repeats. Mutations in this gene result in Cornelia de Lange syndrome, a disorder characterized by dysmorphic facial features, growth delay, limb reduction defects, and cognitive disability. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Known Variants1,351 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1251456909 | 5:36,876,893 | C/T | — | pathogenic |
| rs886060551 | 5:36,876,932 | G/C | — | uncertain significance |
| rs886060552 | 5:36,876,936 | T/C | — | uncertain significance |
| rs886060554 | 5:36,876,950 | C/T | — | uncertain significance |
| rs886060555 | 5:36,876,981 | G/A | — | uncertain significance |
| rs886060556 | 5:36,877,022 | C/T | — | uncertain significance |
| rs540966156 | 5:36,877,048 | T/A | — | likely benign |
| rs377354585 | 5:36,877,053 | C/T | — | benign |
| rs879291582 | 5:36,877,095 | A/G | — | uncertain significance |
| rs544681871 | 5:36,877,117 | A/C | — | benign |
| rs1257470313 | 5:36,877,291 | G/C | — | uncertain significance |
| rs293748 | 5:36,900,843 | G/T | — | — |
| rs549378232 | 5:36,927,068 | A/G | — | — |
| rs1436464402 | 5:36,942,161 | C/T | — | uncertain significance |
| rs121918264 | 5:36,953,800 | T/A | missense variant | pathogenic |
| rs587783937 | 5:36,953,801 | G/T | missense variant | pathogenic |
| rs1458071910 | 5:36,953,803 | A/G | — | uncertain significance |
| rs727504045 | 5:36,953,840 | G/A | — | likely benign |
| rs757439561 | 5:36,953,843 | G/C | — | likely benign |
| rs587784009 | 5:36,953,863 | G/A | — | pathogenic |
| rs587784010 | 5:36,953,865 | A/C | — | pathogenic |
| rs587784011 | 5:36,953,867 | G/A | — | pathogenic |
| rs1554010766 | 5:36,953,868 | T/A | — | uncertain significance |
| rs62356411 | 5:36,954,077 | T/C | — | likely benign |
| rs562041950 | 5:36,955,554 | T/G | — | benign |
| rs201348552 | 5:36,955,557 | G/C | — | benign |
| rs587784012 | 5:36,955,569 | A/G | — | pathogenic |
| rs727503768 | 5:36,955,571 | T/G | — | pathogenic |
| rs2478986417 | 5:36,955,582 | C/T | — | likely pathogenic |
| rs587784061 | 5:36,955,596 | A/G | — | likely benign |
| rs1232312013 | 5:36,955,608 | T/C | — | likely benign |
| rs763015442 | 5:36,955,612 | A/G | — | uncertain significance |
| rs576203422 | 5:36,955,620 | A/G | — | likely benign |
| rs774269226 | 5:36,955,632 | C/T | — | likely benign |
| rs727504046 | 5:36,955,635 | T/C | — | conflicting classifications of pathogenicity |
| rs2478986791 | 5:36,955,641 | A/G | — | likely benign |
| rs80358367 | 5:36,955,642 | C/T | stop gained | pathogenic |
| rs1290230112 | 5:36,955,643 | G/A | — | uncertain significance |
| rs587783886 | 5:36,955,654 | G/T | stop gained | pathogenic |
| rs1740842785 | 5:36,955,670 | T/A | — | pathogenic |
| rs2478987011 | 5:36,955,672 | G/A | — | uncertain significance |
| rs539552810 | 5:36,955,678 | A/G | — | uncertain significance |
| rs142703446 | 5:36,955,688 | A/G | — | likely benign |
| rs2478987184 | 5:36,955,693 | G/C | — | uncertain significance |
| rs1740845459 | 5:36,955,697 | C/A | — | pathogenic |
| rs80358364 | 5:36,955,701 | — | — | pathogenic |
| rs925563626 | 5:36,955,702 | C/G | — | uncertain significance |
| rs2478987276 | 5:36,955,703 | T/G | — | uncertain significance |
| rs146033170 | 5:36,955,707 | C/G | — | likely benign |
| rs1388552505 | 5:36,955,709 | A/G | — | uncertain significance |
| rs587783895 | 5:36,955,715 | T/C | missense variant | pathogenic |
| rs2149599601 | 5:36,955,718 | A/G | — | uncertain significance |
| rs756859262 | 5:36,955,719 | C/A | — | uncertain significance |
| rs2478987527 | 5:36,955,724 | T/C | — | uncertain significance |
| rs745537254 | 5:36,955,734 | T/C | — | likely benign |
| rs1580323183 | 5:36,955,744 | G/A | — | pathogenic |
| rs1342924796 | 5:36,955,749 | A/T | — | likely benign |
| rs775446742 | 5:36,955,757 | T/C | — | likely benign |
| rs749141253 | 5:36,955,758 | A/G | — | likely benign |
| rs111951890 | 5:36,958,057 | C/T | — | benign |
| rs369249480 | 5:36,958,225 | G/A | — | uncertain significance |
| rs1188531884 | 5:36,958,231 | G/A | — | likely benign |
| rs1000583856 | 5:36,958,240 | G/A | — | uncertain significance |
| rs797045753 | 5:36,958,261 | — | — | pathogenic |
| rs142184978 | 5:36,958,269 | C/T | — | likely benign |
| rs779888500 | 5:36,958,270 | G/A | — | uncertain significance |
| rs749086242 | 5:36,958,272 | C/T | — | likely benign |
| rs768550843 | 5:36,958,275 | G/A | — | likely benign |
| rs778661285 | 5:36,958,281 | G/T | — | uncertain significance |
| rs772009624 | 5:36,958,285 | C/G | — | uncertain significance |
| rs376768802 | 5:36,958,288 | A/G | — | uncertain significance |
| rs2479004836 | 5:36,958,289 | A/G | — | uncertain significance |
| rs2479004915 | 5:36,958,303 | A/T | — | likely pathogenic |
| rs587783920 | 5:36,958,307 | G/A | — | uncertain significance |
| rs1242572717 | 5:36,958,309 | A/C | — | uncertain significance |
| rs587783922 | 5:36,958,320 | A/G | synonymous variant | pathogenic |
| rs1419197381 | 5:36,958,323 | T/C | — | likely benign |
| rs587783927 | 5:36,958,334 | G/T | — | pathogenic |
| rs1580330420 | 5:36,958,336 | G/C | — | uncertain significance |
| rs587783928 | 5:36,958,338 | G/C | — | pathogenic |
| rs294691 | 5:36,958,598 | A/G | — | benign |
| rs2479019698 | 5:36,960,501 | A/G | — | uncertain significance |
| rs2149607016 | 5:36,961,586 | G/C | — | uncertain significance |
| rs2149607039 | 5:36,961,600 | C/T | — | pathogenic |
| rs141976717 | 5:36,961,612 | T/C | — | uncertain significance |
| rs1741620942 | 5:36,961,613 | C/G | — | uncertain significance |
| rs2479027150 | 5:36,961,625 | T/C | — | uncertain significance |
| rs758194241 | 5:36,961,630 | A/G | — | uncertain significance |
| rs1741623090 | 5:36,961,634 | G/A | — | uncertain significance |
| rs777676457 | 5:36,961,636 | C/T | — | uncertain significance |
| rs2479027529 | 5:36,961,659 | A/C | — | uncertain significance |
| rs1561082537 | 5:36,961,662 | C/T | — | likely benign |
| rs2479027605 | 5:36,961,671 | A/C | — | likely benign |
| rs2479027699 | 5:36,961,677 | C/A | — | uncertain significance |
| rs769152836 | 5:36,961,680 | C/T | — | likely benign |
| rs762443842 | 5:36,961,689 | A/G | — | uncertain significance |
| rs200829209 | 5:36,961,692 | T/C | — | conflicting classifications of pathogenicity |
| rs1246476225 | 5:36,961,694 | T/C | — | likely benign |
| rs759013143 | 5:36,961,703 | C/T | — | likely benign |
| rs374889149 | 5:36,961,704 | G/A | — | likely benign |
Showing 100 of 1,351 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.