GJA9
gap junction protein alpha 9
Summary
Connexins, such as GJA9, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits (Sohl et al., 2003 [PubMed 12881038]).[supplied by OMIM, Mar 2008]
Known Variants31 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs140099991 | 1:39,340,231 | G/C | — | uncertain significance |
| rs1642543986 | 1:39,340,258 | T/G | — | uncertain significance |
| rs559290870 | 1:39,340,269 | G/A | — | uncertain significance |
| rs61745441 | 1:39,340,381 | A/G | — | benign |
| rs61744044 | 1:39,340,419 | G/A | — | benign |
| rs148366607 | 1:39,340,423 | C/T | — | uncertain significance |
| rs376923048 | 1:39,340,525 | C/G | — | uncertain significance |
| rs1570895513 | 1:39,340,604 | A/G | — | likely benign |
| rs755841142 | 1:39,340,608 | C/T | — | uncertain significance |
| rs748911608 | 1:39,340,643 | T/G | — | uncertain significance |
| rs142530971 | 1:39,340,761 | C/T | — | uncertain significance |
| rs762562353 | 1:39,340,795 | C/G | — | uncertain significance |
| rs775262453 | 1:39,340,829 | A/T | — | uncertain significance |
| rs187360719 | 1:39,340,830 | C/G | — | uncertain significance |
| rs1201181399 | 1:39,340,845 | T/G | — | uncertain significance |
| rs749996613 | 1:39,340,882 | A/T | — | uncertain significance |
| rs768572976 | 1:39,340,909 | C/G | — | uncertain significance |
| rs533010431 | 1:39,341,001 | G/A | — | uncertain significance |
| rs2544884429 | 1:39,341,006 | G/T | — | uncertain significance |
| rs566612670 | 1:39,341,176 | C/T | — | uncertain significance |
| rs2544884779 | 1:39,341,178 | A/G | — | uncertain significance |
| rs369785104 | 1:39,341,182 | T/C | — | uncertain significance |
| rs780294721 | 1:39,341,203 | G/T | — | uncertain significance |
| rs750240223 | 1:39,341,381 | C/A | — | uncertain significance |
| rs1642577420 | 1:39,341,535 | A/C | — | uncertain significance |
| rs1642577650 | 1:39,341,547 | A/T | — | uncertain significance |
| rs768191273 | 1:39,341,565 | G/T | — | uncertain significance |
| rs2544885612 | 1:39,341,577 | C/T | — | uncertain significance |
| rs1193029774 | 1:39,341,678 | T/C | — | uncertain significance |
| rs781561295 | 1:39,341,766 | C/T | — | uncertain significance |
| rs9439082 | 1:39,344,055 | G/A | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.