BCL7B
BAF chromatin remodeling complex subunit BCL7B
Summary
This gene encodes a member of the BCL7 family including BCL7A, BCL7B and BCL7C proteins. This member is BCL7B, which contains a region that is highly similar to the N-terminal segment of BCL7A or BCL7C proteins. The BCL7A protein is encoded by the gene known to be directly involved in a three-way gene translocation in a Burkitt lymphoma cell line. This gene is located at a chromosomal region commonly deleted in Williams syndrome. This gene is highly conserved from C. elegans to human. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2010]
Known Variants13 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs188982745 | 7:72,951,216 | G/A | 3 prime UTR variant | — |
| rs142166738 | 7:72,951,640 | C/G | — | likely benign |
| rs369402294 | 7:72,954,236 | T/C | — | uncertain significance |
| rs199944599 | 7:72,954,256 | G/A | — | uncertain significance |
| rs781826895 | 7:72,954,274 | T/A | — | uncertain significance |
| rs1431813860 | 7:72,954,304 | G/A | — | uncertain significance |
| rs146655849 | 7:72,954,359 | C/A | — | uncertain significance |
| rs1563425718 | 7:72,957,926 | A/G | — | uncertain significance |
| rs113885479 | 7:72,958,585 | T/G | intron variant | — |
| rs150783798 | 7:72,967,968 | A/C | — | likely benign |
| rs13233571 | 7:72,971,231 | C/T | regulatory region variant | — |
| rs7793710 | 7:72,971,531 | C/A | — | — |
| rs1295157268 | 7:72,971,893 | C/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.