DTNB
dystrobrevin beta
Summary
This gene encodes dystrobrevin beta, a component of the dystrophin-associated protein complex (DPC). The DPC consists of dystrophin and several integral and peripheral membrane proteins, including dystroglycans, sarcoglycans, syntrophins and dystrobrevin alpha and beta. The DPC localizes to the sarcolemma and its disruption is associated with various forms of muscular dystrophy. Dystrobrevin beta is thought to interact with syntrophin and the DP71 short form of dystrophin. [provided by RefSeq, Mar 2016]
Known Variants48 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs779857589 | 2:25,602,192 | C/T | — | uncertain significance |
| rs2038657271 | 2:25,606,747 | C/A | — | uncertain significance |
| rs961850767 | 2:25,606,753 | C/T | — | uncertain significance |
| rs2039764099 | 2:25,610,203 | A/T | — | uncertain significance |
| rs771529859 | 2:25,610,227 | T/G | — | uncertain significance |
| rs373391383 | 2:25,610,244 | G/A | — | uncertain significance |
| rs200891309 | 2:25,611,082 | G/A | — | uncertain significance |
| rs556788503 | 2:25,611,092 | C/A | — | uncertain significance |
| rs200383554 | 2:25,611,102 | G/A | — | benign |
| rs202036284 | 2:25,611,146 | C/T | — | uncertain significance |
| rs2040109358 | 2:25,611,190 | C/G | — | uncertain significance |
| rs7577599 | 2:25,613,146 | T/C | intron variant | — |
| rs6546149 | 2:25,629,438 | C/A | — | — |
| rs10180663 | 2:25,633,242 | T/G | — | — |
| rs34845373 | 2:25,635,771 | A/G | intron variant | — |
| rs17802463 | 2:25,643,221 | G/A | — | — |
| rs1232524704 | 2:25,656,830 | T/C | — | uncertain significance |
| rs201598651 | 2:25,656,835 | G/A | — | likely benign |
| rs141947082 | 2:25,656,860 | C/T | — | uncertain significance |
| rs6746082 | 2:25,659,244 | A/C | intron variant | — |
| rs375040738 | 2:25,674,419 | C/T | — | likely benign |
| rs1413234259 | 2:25,674,455 | G/A | — | uncertain significance |
| rs369161120 | 2:25,674,467 | G/A | — | uncertain significance |
| rs77234426 | 2:25,678,275 | G/A | — | uncertain significance |
| rs752284982 | 2:25,678,326 | C/T | — | uncertain significance |
| rs769142218 | 2:25,754,376 | G/C | — | uncertain significance |
| rs199811406 | 2:25,754,393 | T/C | — | uncertain significance |
| rs682888 | 2:25,757,709 | T/C | intron variant | — |
| rs57554628 | 2:25,761,109 | T/A | — | — |
| rs12473635 | 2:25,778,637 | T/G | — | — |
| rs6737159 | 2:25,781,453 | T/C | regulatory region variant | — |
| rs529505111 | 2:25,799,742 | T/C | — | uncertain significance |
| rs1055017090 | 2:25,799,751 | C/T | — | uncertain significance |
| rs199915937 | 2:25,799,753 | C/A | — | uncertain significance |
| rs371402432 | 2:25,799,754 | C/T | — | likely benign |
| rs773806416 | 2:25,799,813 | C/T | — | uncertain significance |
| rs747144913 | 2:25,819,082 | T/C | — | uncertain significance |
| rs371034857 | 2:25,819,083 | T/C | — | uncertain significance |
| rs745707089 | 2:25,830,149 | A/G | — | uncertain significance |
| rs756143344 | 2:25,830,153 | C/T | — | uncertain significance |
| rs142390827 | 2:25,830,182 | C/T | — | uncertain significance |
| rs71399306 | 2:25,832,528 | C/T | — | — |
| rs761363651 | 2:25,851,068 | G/C | — | uncertain significance |
| rs774965770 | 2:25,851,071 | G/A | — | uncertain significance |
| rs199506096 | 2:25,851,107 | T/C | — | uncertain significance |
| rs773276883 | 2:25,851,164 | G/A | — | uncertain significance |
| rs756626108 | 2:25,875,505 | G/A | — | uncertain significance |
| rs11684202 | 2:25,887,558 | A/C | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.