ABR
ABR activator of RhoGEF and GTPase
Summary
This gene encodes a protein that is similar to the protein encoded by the breakpoint cluster region gene located on chromosome 22. The protein encoded by this gene contains a GTPase-activating protein domain, a domain found in members of the Rho family of GTP-binding proteins. Functional studies in mice determined that this protein plays a role in vestibular morphogenesis. Alternatively spliced transcript variants have been reported for this gene. [provided by RefSeq, Feb 2012]
Known Variants50 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs757511977 | 17:909,364 | C/T | — | uncertain significance |
| rs772563422 | 17:909,369 | G/A | — | uncertain significance |
| rs2544954662 | 17:909,393 | T/A | — | uncertain significance |
| rs2586305 | 17:910,401 | G/A | — | benign |
| rs145999759 | 17:910,409 | G/A | — | uncertain significance |
| rs557404617 | 17:910,545 | C/T | — | uncertain significance |
| rs191202493 | 17:911,610 | G/A | downstream gene variant | — |
| rs538789271 | 17:912,930 | T/A | — | uncertain significance |
| rs1381915640 | 17:913,972 | T/C | — | uncertain significance |
| rs200228390 | 17:913,998 | C/T | — | uncertain significance |
| rs370232881 | 17:914,030 | G/C | — | uncertain significance |
| rs376689300 | 17:914,053 | C/T | — | uncertain significance |
| rs2544979418 | 17:914,083 | T/C | — | uncertain significance |
| rs750354403 | 17:915,092 | C/T | — | uncertain significance |
| rs149677223 | 17:915,108 | C/T | — | likely benign |
| rs749775499 | 17:915,125 | C/T | — | uncertain significance |
| rs200785190 | 17:915,128 | C/T | — | uncertain significance |
| rs372963142 | 17:915,197 | C/T | — | uncertain significance |
| rs750218616 | 17:915,931 | G/A | — | uncertain significance |
| rs747841898 | 17:916,362 | C/T | — | uncertain significance |
| rs2663345 | 17:925,764 | A/T | coding sequence variant | — |
| rs2376600 | 17:928,078 | G/A | upstream gene variant | — |
| rs542189987 | 17:953,322 | C/T | — | uncertain significance |
| rs2545218420 | 17:953,372 | T/C | — | uncertain significance |
| rs1256042037 | 17:953,842 | C/T | — | uncertain significance |
| rs573129548 | 17:959,329 | A/G | — | likely benign |
| rs1393630002 | 17:959,338 | G/C | — | uncertain significance |
| rs773646538 | 17:959,340 | G/A | — | uncertain significance |
| rs757864475 | 17:961,285 | T/A | — | uncertain significance |
| rs1187822011 | 17:961,978 | T/A | — | likely benign |
| rs181164986 | 17:961,998 | T/C | — | uncertain significance |
| rs760316843 | 17:962,080 | T/C | — | uncertain significance |
| rs2545348706 | 17:970,359 | C/G | — | uncertain significance |
| rs2545349162 | 17:970,462 | C/T | — | uncertain significance |
| rs139043011 | 17:975,292 | C/T | intron variant | — |
| rs761667866 | 17:975,885 | C/T | — | uncertain significance |
| rs770625027 | 17:994,934 | C/T | — | uncertain significance |
| rs765186007 | 17:1,028,553 | C/T | — | likely benign |
| rs143549153 | 17:1,028,566 | G/A | — | benign |
| rs148044433 | 17:1,028,580 | C/T | — | uncertain significance |
| rs773223790 | 17:1,028,581 | G/T | — | uncertain significance |
| rs573239507 | 17:1,028,642 | G/A | — | uncertain significance |
| rs2545703211 | 17:1,083,008 | C/G | — | uncertain significance |
| rs188411703 | 17:1,110,838 | G/A | intron variant | — |
| rs76552953 | 17:1,131,442 | T/C | — | benign |
| rs112210115 | 17:1,132,554 | C/T | — | benign |
| rs75816908 | 17:1,132,584 | C/T | — | benign |
| rs936800749 | 17:1,132,615 | C/G | — | likely benign |
| rs148570528 | 17:1,132,706 | C/G | — | benign |
| rs115520784 | 17:1,132,833 | G/T | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.