GABRG2
gamma-aminobutyric acid type A receptor subunit gamma2
Summary
This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammlian brain, where it acts at GABA-A receptors, which are ligand-gated chloride channels. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene have been associated with epilepsy and febrile seizures. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Known Variants550 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs373854070 | 5:161,494,631 | G/C | — | likely benign |
| rs1241101902 | 5:161,494,651 | A/C | — | uncertain significance |
| rs886060374 | 5:161,494,672 | C/T | — | uncertain significance |
| rs772816792 | 5:161,494,724 | C/T | — | uncertain significance |
| rs886060375 | 5:161,494,738 | C/A | — | uncertain significance |
| rs886060376 | 5:161,494,756 | C/T | — | uncertain significance |
| rs886060377 | 5:161,494,765 | A/C | — | uncertain significance |
| rs748771306 | 5:161,494,789 | C/G | — | uncertain significance |
| rs1478556756 | 5:161,494,810 | C/T | — | uncertain significance |
| rs886060378 | 5:161,494,827 | T/A | — | uncertain significance |
| rs3219203 | 5:161,494,852 | C/T | — | benign |
| rs886060379 | 5:161,494,892 | T/C | — | uncertain significance |
| rs886060380 | 5:161,494,902 | T/G | — | conflicting classifications of pathogenicity |
| rs1581275976 | 5:161,495,006 | A/G | — | uncertain significance |
| rs1758351092 | 5:161,495,008 | G/T | — | uncertain significance |
| rs1581276004 | 5:161,495,011 | T/G | — | uncertain significance |
| rs55716248 | 5:161,495,014 | G/A | — | likely benign |
| rs375295110 | 5:161,495,016 | C/T | — | likely benign |
| rs774337016 | 5:161,495,018 | A/T | — | uncertain significance |
| rs1057522820 | 5:161,495,020 | T/C | — | likely benign |
| rs759392289 | 5:161,495,022 | T/C | — | benign |
| rs764172866 | 5:161,495,026 | G/C | — | uncertain significance |
| rs183259247 | 5:161,495,029 | C/A | — | uncertain significance |
| rs2113080489 | 5:161,495,030 | A/C | — | uncertain significance |
| rs1262705178 | 5:161,495,033 | G/A | — | conflicting classifications of pathogenicity |
| rs2532460376 | 5:161,495,038 | C/T | — | likely benign |
| rs762058667 | 5:161,495,041 | A/T | — | likely benign |
| rs796052502 | 5:161,495,042 | G/A | — | conflicting classifications of pathogenicity |
| rs61750979 | 5:161,495,046 | A/G | — | conflicting classifications of pathogenicity |
| rs1429217294 | 5:161,495,054 | C/G | — | uncertain significance |
| rs141106898 | 5:161,495,057 | G/C | — | likely benign |
| rs796052516 | 5:161,495,075 | A/G | — | uncertain significance |
| rs1060501891 | 5:161,495,076 | C/A | — | uncertain significance |
| rs1343042707 | 5:161,495,077 | G/C | — | likely benign |
| rs1452669998 | 5:161,495,080 | G/A | — | likely benign |
| rs1293775808 | 5:161,495,081 | T/G | — | uncertain significance |
| rs766990192 | 5:161,495,084 | A/G | — | likely benign |
| rs1554096092 | 5:161,495,089 | G/C | — | likely benign |
| rs2113081191 | 5:161,495,090 | C/T | — | uncertain significance |
| rs2532460667 | 5:161,495,094 | T/C | — | uncertain significance |
| rs115976622 | 5:161,495,095 | G/C | — | likely benign |
| rs2113081300 | 5:161,495,098 | G/A | — | likely benign |
| rs1758361435 | 5:161,495,100 | C/A | — | pathogenic |
| rs368162707 | 5:161,495,104 | C/T | — | likely benign |
| rs1459935300 | 5:161,495,106 | A/C | — | uncertain significance |
| rs780713471 | 5:161,495,107 | C/T | — | likely benign |
| rs1189639394 | 5:161,495,109 | C/T | — | uncertain significance |
| rs866056788 | 5:161,495,111 | G/A | — | uncertain significance |
| rs1266267390 | 5:161,495,112 | G/A | — | uncertain significance |
| rs1758364128 | 5:161,495,113 | G/A | — | likely pathogenic |
| rs796052517 | 5:161,495,115 | A/G | — | uncertain significance |
| rs868452487 | 5:161,495,118 | A/G | — | conflicting classifications of pathogenicity |
| rs2113081716 | 5:161,495,120 | G/A | — | likely benign |
| rs369898285 | 5:161,495,122 | G/A | — | likely benign |
| rs376576632 | 5:161,495,123 | C/A | — | likely benign |
| rs369466385 | 5:161,495,124 | C/T | — | conflicting classifications of pathogenicity |
| rs2532460849 | 5:161,495,125 | C/A | — | likely benign |
| rs770641887 | 5:161,495,127 | T/G | — | likely benign |
| rs144921791 | 5:161,495,223 | G/A | — | likely benign |
| rs149245576 | 5:161,495,335 | T/G | — | likely benign |
| rs183294 | 5:161,498,737 | T/C | intron variant | — |
| rs189608633 | 5:161,506,656 | A/G | intron variant | — |
| rs1997583 | 5:161,508,503 | A/G | — | — |
| rs1433555018 | 5:161,517,461 | G/A | — | uncertain significance |
| rs209356 | 5:161,518,984 | A/G | intron variant | — |
| rs146492172 | 5:161,520,652 | G/A | — | likely benign |
| rs2113297683 | 5:161,520,817 | A/G | — | likely benign |
| rs1251942618 | 5:161,520,819 | T/C | — | likely benign |
| rs777266512 | 5:161,520,820 | A/G | — | likely benign |
| rs2532552855 | 5:161,520,822 | G/A | — | likely benign |
| rs1760796569 | 5:161,520,854 | A/T | — | uncertain significance |
| rs1363015660 | 5:161,520,860 | A/G | — | uncertain significance |
| rs375308385 | 5:161,520,861 | C/T | — | conflicting classifications of pathogenicity |
| rs1218953360 | 5:161,520,863 | A/C | — | uncertain significance |
| rs1760798437 | 5:161,520,866 | A/G | — | likely benign |
| rs2532553107 | 5:161,520,867 | A/G | — | likely benign |
| rs1581342183 | 5:161,520,869 | A/G | — | likely benign |
| rs772026488 | 5:161,520,870 | T/A | — | uncertain significance |
| rs1264403667 | 5:161,520,876 | T/C | — | likely benign |
| rs1581342223 | 5:161,520,881 | A/G | — | uncertain significance |
| rs748255945 | 5:161,520,888 | A/G | — | likely benign |
| rs2113298209 | 5:161,520,894 | C/T | — | likely benign |
| rs763218917 | 5:161,520,899 | C/A | — | uncertain significance |
| rs1760801995 | 5:161,520,904 | A/T | — | pathogenic |
| rs2532553285 | 5:161,520,905 | A/T | — | uncertain significance |
| rs1184632361 | 5:161,520,910 | C/G | — | likely benign |
| rs771317794 | 5:161,520,911 | C/T | — | uncertain significance |
| rs774756037 | 5:161,520,915 | G/C | — | uncertain significance |
| rs1408343754 | 5:161,520,917 | G/A | — | uncertain significance |
| rs1760804071 | 5:161,520,922 | G/A | — | uncertain significance |
| rs2532553473 | 5:161,520,932 | T/C | — | uncertain significance |
| rs768062008 | 5:161,520,942 | C/A | — | uncertain significance |
| rs753076158 | 5:161,520,945 | G/A | — | likely benign |
| rs796052503 | 5:161,520,946 | C/G | missense variant | pathogenic |
| rs1374414439 | 5:161,520,967 | C/T | — | uncertain significance |
| rs143295869 | 5:161,520,969 | T/A | — | conflicting classifications of pathogenicity |
| rs146470870 | 5:161,520,970 | C/T | — | pathogenic |
| rs121909673 | 5:161,520,971 | G/A | missense variant | pathogenic |
| rs587777365 | 5:161,520,973 | C/T | — | pathogenic |
| rs1760808499 | 5:161,520,974 | C/T | — | likely pathogenic |
Showing 100 of 550 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.