GABBR1
gamma-aminobutyric acid type B receptor subunit 1
Summary
This gene encodes a receptor for gamma-aminobutyric acid (GABA), which is the main inhibitory neurotransmitter in the mammalian central nervous system. This receptor functions as a heterodimer with GABA(B) receptor 2. Defects in this gene may underlie brain disorders such as schizophrenia and epilepsy. Alternative splicing generates multiple transcript variants, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jan 2016]
Known Variants72 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs141207827 | 6:29,571,342 | C/T | — | uncertain significance |
| rs145168605 | 6:29,571,363 | C/T | — | uncertain significance |
| rs1275472857 | 6:29,571,367 | C/T | — | uncertain significance |
| rs1243106351 | 6:29,571,376 | C/T | — | uncertain significance |
| rs779359819 | 6:29,571,381 | G/A | — | uncertain significance |
| rs768285253 | 6:29,571,433 | G/A | — | uncertain significance |
| rs772583083 | 6:29,571,442 | G/A | — | uncertain significance |
| rs760309411 | 6:29,571,443 | C/A | — | uncertain significance |
| rs2076483 | 6:29,571,545 | A/G | intron variant | — |
| rs140401546 | 6:29,572,279 | T/C | — | uncertain significance |
| rs753549467 | 6:29,572,334 | G/A | — | likely benign |
| rs145419499 | 6:29,572,373 | C/T | — | likely benign |
| rs2482649705 | 6:29,572,402 | T/A | — | uncertain significance |
| rs1446747946 | 6:29,573,377 | C/T | — | uncertain significance |
| rs989050425 | 6:29,573,378 | G/A | — | uncertain significance |
| rs28359963 | 6:29,574,476 | T/A | — | — |
| rs774394185 | 6:29,574,688 | G/A | — | uncertain significance |
| rs765209352 | 6:29,574,714 | G/A | — | uncertain significance |
| rs1582952817 | 6:29,574,757 | C/T | — | uncertain significance |
| rs2482764108 | 6:29,574,970 | C/T | — | likely pathogenic |
| rs29266 | 6:29,575,279 | A/G | intron variant | — |
| rs29261 | 6:29,576,198 | A/G | intron variant | — |
| rs2482830200 | 6:29,576,400 | T/C | — | likely benign |
| rs144688306 | 6:29,576,407 | C/T | — | uncertain significance |
| rs1762204693 | 6:29,576,412 | T/A | — | uncertain significance |
| rs2076489 | 6:29,576,437 | A/G | — | likely benign |
| rs2482835205 | 6:29,576,469 | G/A | — | uncertain significance |
| rs1458641755 | 6:29,576,508 | T/A | — | uncertain significance |
| rs767518606 | 6:29,577,082 | C/T | — | uncertain significance |
| rs41286287 | 6:29,579,991 | T/A | intron variant | — |
| rs144125309 | 6:29,580,347 | C/T | — | likely benign |
| rs2482987023 | 6:29,580,355 | C/T | — | likely pathogenic |
| rs2483012843 | 6:29,581,025 | C/T | — | uncertain significance |
| rs771699197 | 6:29,581,055 | G/C | — | uncertain significance |
| rs980473553 | 6:29,581,109 | C/G | — | not provided |
| rs186263204 | 6:29,581,182 | C/T | — | benign |
| rs2109476 | 6:29,588,020 | A/T | intron variant | — |
| rs2483298866 | 6:29,589,011 | G/A | — | likely pathogenic |
| rs2483301945 | 6:29,589,070 | C/T | — | uncertain significance |
| rs199739847 | 6:29,589,547 | G/A | — | benign |
| rs2483321372 | 6:29,589,556 | C/G | — | likely pathogenic |
| rs2483339912 | 6:29,589,904 | C/G | — | likely pathogenic |
| rs777154293 | 6:29,589,977 | C/T | — | likely benign |
| rs372377425 | 6:29,589,991 | G/A | — | likely benign |
| rs2127435245 | 6:29,591,082 | C/T | — | uncertain significance |
| rs1322829894 | 6:29,591,097 | A/G | — | likely benign |
| rs78592538 | 6:29,591,100 | G/C | — | benign |
| rs775896752 | 6:29,591,132 | C/T | — | uncertain significance |
| rs2483378748 | 6:29,591,156 | G/A | — | uncertain significance |
| rs41291770 | 6:29,594,265 | T/A | — | — |
| rs768328343 | 6:29,595,300 | G/C | — | uncertain significance |
| rs1217786342 | 6:29,595,313 | T/C | — | uncertain significance |
| rs2127444404 | 6:29,595,375 | C/T | — | uncertain significance |
| rs143229677 | 6:29,596,242 | G/A | regulatory region variant | — |
| rs776263410 | 6:29,596,875 | G/A | — | uncertain significance |
| rs780006003 | 6:29,598,285 | C/T | — | uncertain significance |
| rs79721257 | 6:29,598,320 | C/G | — | likely benign |
| rs547178109 | 6:29,598,340 | C/T | — | uncertain significance |
| rs567013137 | 6:29,598,341 | G/A | — | likely benign |
| rs757008467 | 6:29,598,366 | G/A | — | uncertain significance |
| rs2481007993 | 6:29,598,381 | C/G | — | uncertain significance |
| rs2481008696 | 6:29,598,395 | C/A | — | uncertain significance |
| rs2481008818 | 6:29,598,397 | A/C | — | uncertain significance |
| rs29242 | 6:29,598,869 | T/G | — | — |
| rs755809131 | 6:29,599,242 | C/G | — | uncertain significance |
| rs1336754838 | 6:29,599,256 | C/T | — | uncertain significance |
| rs766264533 | 6:29,599,370 | T/C | — | uncertain significance |
| rs56034620 | 6:29,600,124 | G/A | — | likely benign |
| rs75537567 | 6:29,600,126 | G/A | — | uncertain significance |
| rs138928071 | 6:29,602,522 | C/A | upstream gene variant | — |
| rs28749531 | 6:29,602,717 | A/T | upstream gene variant | — |
| rs115371741 | 6:29,602,723 | A/T | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.