BCL2
BCL2 apoptosis regulator
Summary
This gene encodes an integral outer mitochondrial membrane protein that blocks the apoptotic death of some cells such as lymphocytes. Constitutive expression of BCL2, such as in the case of translocation of BCL2 to Ig heavy chain locus, is thought to be the cause of follicular lymphoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
Known Variants37 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs4987855 | 18:60,793,549 | C/A | — | — |
| rs4987853 | 18:60,793,655 | T/G | — | — |
| rs4987852 | 18:60,793,921 | T/C | 3 prime UTR variant | — |
| rs1564483 | 18:60,794,654 | C/T | 3 prime UTR variant | — |
| rs1016860 | 18:60,795,074 | C/G | — | — |
| rs72941346 | 18:60,804,723 | A/G | intron variant | — |
| rs956572 | 18:60,820,571 | A/G | upstream gene variant | — |
| rs4940572 | 18:60,826,343 | G/A | regulatory region variant | — |
| rs8094630 | 18:60,835,170 | A/T | intron variant | — |
| rs66836460 | 18:60,837,508 | C/A | intron variant | — |
| rs8099218 | 18:60,842,026 | A/C | intron variant | — |
| rs4987802 | 18:60,844,723 | C/T | — | — |
| rs12454712 | 18:60,845,884 | T/A | — | — |
| rs80030866 | 18:60,846,656 | T/C | intron variant | — |
| rs899967 | 18:60,859,321 | C/T | — | — |
| rs17757541 | 18:60,879,686 | C/G | intron variant | — |
| rs7243091 | 18:60,880,562 | G/A | intron variant | — |
| rs187971642 | 18:60,880,701 | T/C | intron variant | — |
| rs144596877 | 18:60,882,132 | G/C | intron variant | — |
| rs12970504 | 18:60,895,919 | T/C | intron variant | — |
| rs3826622 | 18:60,903,969 | G/A | — | — |
| rs17758695 | 18:60,920,854 | C/T | regulatory region variant | — |
| rs7226979 | 18:60,924,970 | C/G | — | — |
| rs12457893 | 18:60,926,161 | A/C | intron variant | — |
| rs8094315 | 18:60,936,047 | A/G | intron variant | — |
| rs7236090 | 18:60,947,111 | T/C | intron variant | — |
| rs17759659 | 18:60,958,644 | A/G | intron variant | — |
| rs11152377 | 18:60,972,446 | T/C | intron variant | — |
| rs949037 | 18:60,979,013 | G/A | regulatory region variant | — |
| rs1462129 | 18:60,980,871 | T/A | — | — |
| rs137945099 | 18:60,985,441 | G/A | — | likely benign |
| rs2144321951 | 18:60,985,442 | A/T | — | uncertain significance |
| rs990629198 | 18:60,985,562 | G/T | — | uncertain significance |
| rs61733416 | 18:60,985,600 | A/G | — | benign |
| rs1913587435 | 18:60,985,829 | G/A | — | uncertain significance |
| rs1801018 | 18:60,985,879 | T/C | synonymous variant | benign |
| rs2279115 | 18:60,986,837 | G/C | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.