GABRA5
gamma-aminobutyric acid type A receptor subunit alpha5
Summary
GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. Transcript variants utilizing three different alternative non-coding first exons have been described. [provided by RefSeq, Jul 2008]
Known Variants66 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2140239506 | 15:27,114,397 | T/A | — | uncertain significance |
| rs747290038 | 15:27,114,425 | C/T | — | likely benign |
| rs2504169040 | 15:27,114,426 | A/G | — | uncertain significance |
| rs2504169269 | 15:27,114,467 | A/T | — | uncertain significance |
| rs751390334 | 15:27,114,469 | C/G | — | uncertain significance |
| rs375945386 | 15:27,114,482 | G/A | — | uncertain significance |
| rs2075716 | 15:27,114,904 | T/C | intron variant | — |
| rs1258594122 | 15:27,126,006 | C/G | — | uncertain significance |
| rs936634230 | 15:27,126,007 | C/T | — | uncertain significance |
| rs2504193000 | 15:27,126,023 | A/T | — | uncertain significance |
| rs2504193154 | 15:27,126,058 | G/A | — | uncertain significance |
| rs753422014 | 15:27,126,086 | C/G | — | uncertain significance |
| rs371972383 | 15:27,128,324 | C/A | — | likely benign |
| rs2504199146 | 15:27,128,325 | A/G | — | uncertain significance |
| rs527687461 | 15:27,128,332 | G/A | — | likely benign |
| rs547815463 | 15:27,128,368 | C/G | — | likely benign |
| rs79274924 | 15:27,128,498 | C/T | — | likely benign |
| rs201750882 | 15:27,128,510 | A/T | — | likely benign |
| rs745781222 | 15:27,128,520 | A/G | — | uncertain significance |
| rs779975888 | 15:27,128,576 | C/T | — | likely benign |
| rs2140256124 | 15:27,128,601 | G/T | — | uncertain significance |
| rs2504200709 | 15:27,128,643 | A/G | — | uncertain significance |
| rs1892791667 | 15:27,128,668 | G/A | — | uncertain significance |
| rs2504200989 | 15:27,128,679 | G/T | — | uncertain significance |
| rs371590711 | 15:27,128,681 | C/T | — | likely benign |
| rs968198759 | 15:27,128,682 | G/C | — | uncertain significance |
| rs2140256348 | 15:27,128,697 | A/T | — | uncertain significance |
| rs182131760 | 15:27,157,467 | C/T | intron variant | — |
| rs1479609899 | 15:27,160,003 | C/T | — | uncertain significance |
| rs140643363 | 15:27,160,007 | C/T | — | likely benign |
| rs35399885 | 15:27,160,535 | C/A | — | — |
| rs149156018 | 15:27,182,336 | G/A | — | likely benign |
| rs140682 | 15:27,182,357 | T/C | — | benign |
| rs200310381 | 15:27,182,372 | C/T | — | likely benign |
| rs374318313 | 15:27,182,444 | G/A | — | likely benign |
| rs762861847 | 15:27,182,464 | G/A | — | uncertain significance |
| rs12910925 | 15:27,184,435 | C/T | — | benign |
| rs34560927 | 15:27,184,482 | C/T | — | benign |
| rs17647384 | 15:27,184,517 | G/A | — | benign |
| rs2504349112 | 15:27,185,077 | T/C | — | likely benign |
| rs2504349278 | 15:27,185,104 | C/G | — | uncertain significance |
| rs2504349769 | 15:27,185,194 | C/T | — | uncertain significance |
| rs2140588007 | 15:27,185,218 | G/C | — | likely pathogenic |
| rs140683 | 15:27,188,335 | T/A | — | benign |
| rs140684 | 15:27,188,353 | A/C | — | benign |
| rs747574193 | 15:27,188,357 | C/T | — | likely benign |
| rs1595438243 | 15:27,188,364 | G/C | — | pathogenic |
| rs576311786 | 15:27,188,382 | A/G | — | uncertain significance |
| rs1595438268 | 15:27,188,386 | C/G | — | pathogenic |
| rs140685 | 15:27,188,459 | C/T | — | benign |
| rs1417092187 | 15:27,188,474 | C/T | — | uncertain significance |
| rs376507743 | 15:27,188,482 | C/T | — | uncertain significance |
| rs41317330 | 15:27,188,501 | C/T | — | likely benign |
| rs1437683141 | 15:27,188,542 | G/T | — | uncertain significance |
| rs2140596800 | 15:27,188,573 | G/C | — | uncertain significance |
| rs554574152 | 15:27,190,898 | G/T | — | — |
| rs773455093 | 15:27,193,146 | C/T | — | benign |
| rs779089481 | 15:27,193,157 | C/T | — | uncertain significance |
| rs79610577 | 15:27,193,172 | C/T | — | likely benign |
| rs2504371686 | 15:27,193,177 | G/T | — | uncertain significance |
| rs74006538 | 15:27,193,182 | G/A | — | benign |
| rs202172745 | 15:27,193,195 | T/G | — | likely benign |
| rs1595441329 | 15:27,193,229 | C/T | — | pathogenic |
| rs2504372080 | 15:27,193,259 | G/A | — | uncertain significance |
| rs1394239964 | 15:27,193,290 | C/T | — | likely benign |
| rs78631109 | 15:27,193,332 | G/A | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.