BCL7A
BAF chromatin remodeling complex subunit BCL7A
Summary
This gene is directly involved, with Myc and IgH, in a three-way gene translocation in a Burkitt lymphoma cell line. As a result of the gene translocation, the N-terminal region of the gene product is disrupted, which is thought to be related to the pathogenesis of a subset of high-grade B cell non-Hodgkin lymphoma. The N-terminal segment involved in the translocation includes the region that shares a strong sequence similarity with those of BCL7B and BCL7C. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Known Variants15 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1916333 | 12:122,458,637 | C/T | — | — |
| rs1678970 | 12:122,461,928 | G/C | — | — |
| rs147203669 | 12:122,471,962 | T/C | intron variant | — |
| rs555542321 | 12:122,472,710 | C/T | — | — |
| rs78296744 | 12:122,479,308 | G/C | — | — |
| rs756158547 | 12:122,481,866 | G/A | — | uncertain significance |
| rs201873233 | 12:122,481,912 | A/G | — | uncertain significance |
| rs926190828 | 12:122,481,939 | A/G | — | uncertain significance |
| rs1880030 | 12:122,484,540 | G/C | — | — |
| rs970494037 | 12:122,492,759 | A/G | — | uncertain significance |
| rs143565565 | 12:122,492,789 | C/G | — | likely benign |
| rs556323322 | 12:122,492,839 | C/G | — | uncertain significance |
| rs1311987894 | 12:122,492,873 | G/A | — | uncertain significance |
| rs202061094 | 12:122,492,882 | T/C | — | uncertain significance |
| rs28691281 | 12:122,495,440 | G/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.