PDE6A
phosphodiesterase 6A
Summary
This gene encodes the cyclic-GMP (cGMP)-specific phosphodiesterase 6A alpha subunit, expressed in cells of the retinal rod outer segment. The phosphodiesterase 6 holoenzyme is a heterotrimer composed of an alpha, beta, and two gamma subunits. cGMP is an important regulator of rod cell membrane current, and its dynamic concentration is established by phosphodiesterase 6A cGMP hydrolysis and guanylate cyclase cGMP synthesis. The protein is a subunit of a key phototransduction enzyme and participates in processes of transmission and amplification of the visual signal. Mutations in this gene have been identified as one cause of autosomal recessive retinitis pigmentosa. [provided by RefSeq, Jul 2008]
Known Variants735 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs757612877 | 5:149,237,569 | G/C | — | uncertain significance |
| rs73796297 | 5:149,237,605 | G/C | — | likely benign |
| rs17110632 | 5:149,237,687 | C/G | — | benign |
| rs78827133 | 5:149,237,689 | T/G | — | benign |
| rs578087908 | 5:149,237,741 | C/T | — | uncertain significance |
| rs150127383 | 5:149,237,796 | T/C | — | likely benign |
| rs367679417 | 5:149,237,832 | G/C | — | uncertain significance |
| rs188603235 | 5:149,237,838 | G/T | — | uncertain significance |
| rs777837397 | 5:149,237,842 | C/T | — | uncertain significance |
| rs965453260 | 5:149,237,843 | G/A | — | uncertain significance |
| rs1760007422 | 5:149,237,876 | A/G | — | uncertain significance |
| rs30884 | 5:149,237,916 | C/T | — | benign |
| rs111440604 | 5:149,237,933 | T/G | — | likely benign |
| rs551329710 | 5:149,237,997 | G/A | — | uncertain significance |
| rs74771814 | 5:149,238,058 | T/C | — | uncertain significance |
| rs77109719 | 5:149,238,075 | C/T | — | uncertain significance |
| rs30885 | 5:149,238,122 | A/G | — | benign |
| rs115656079 | 5:149,238,229 | G/A | — | likely benign |
| rs30886 | 5:149,238,264 | T/C | — | benign |
| rs756742673 | 5:149,238,320 | C/T | — | uncertain significance |
| rs759816 | 5:149,238,348 | T/C | — | benign |
| rs251458 | 5:149,238,390 | C/T | — | uncertain significance |
| rs1760029760 | 5:149,238,429 | C/T | — | uncertain significance |
| rs2005909 | 5:149,238,449 | A/G | — | benign |
| rs538582690 | 5:149,238,491 | G/A | — | uncertain significance |
| rs971352928 | 5:149,238,591 | T/A | — | uncertain significance |
| rs184935833 | 5:149,238,678 | G/A | — | uncertain significance |
| rs868404248 | 5:149,238,696 | T/C | — | uncertain significance |
| rs74869635 | 5:149,238,738 | A/T | — | benign |
| rs149268409 | 5:149,238,755 | T/G | — | uncertain significance |
| rs867317358 | 5:149,238,763 | C/T | — | uncertain significance |
| rs116427816 | 5:149,238,765 | T/G | — | uncertain significance |
| rs115580452 | 5:149,238,782 | A/G | — | uncertain significance |
| rs536740900 | 5:149,238,943 | C/T | — | uncertain significance |
| rs886060210 | 5:149,239,069 | A/G | — | uncertain significance |
| rs888895 | 5:149,239,093 | C/T | — | benign |
| rs551130416 | 5:149,239,099 | C/A | — | uncertain significance |
| rs911447952 | 5:149,239,119 | A/C | — | uncertain significance |
| rs879722083 | 5:149,239,123 | G/A | — | uncertain significance |
| rs144468326 | 5:149,239,143 | C/T | — | uncertain significance |
| rs886060211 | 5:149,239,154 | C/T | — | uncertain significance |
| rs1760060829 | 5:149,239,207 | G/T | — | uncertain significance |
| rs144135425 | 5:149,239,401 | G/A | — | uncertain significance |
| rs185298177 | 5:149,239,502 | C/T | — | uncertain significance |
| rs1760069963 | 5:149,239,503 | G/A | — | uncertain significance |
| rs565361431 | 5:149,239,507 | G/A | — | uncertain significance |
| rs886060212 | 5:149,239,520 | T/G | — | uncertain significance |
| rs990393994 | 5:149,239,526 | A/G | — | uncertain significance |
| rs1458662327 | 5:149,239,644 | A/G | — | uncertain significance |
| rs4705387 | 5:149,239,662 | T/C | — | benign |
| rs4705388 | 5:149,239,702 | G/A | — | benign |
| rs1398735404 | 5:149,239,744 | C/G | — | uncertain significance |
| rs777001495 | 5:149,239,754 | C/T | — | uncertain significance |
| rs4705389 | 5:149,239,850 | G/A | — | benign |
| rs150867395 | 5:149,239,859 | A/G | — | uncertain significance |
| rs941850883 | 5:149,239,936 | A/C | — | uncertain significance |
| rs113302481 | 5:149,240,280 | A/G | — | uncertain significance |
| rs150003610 | 5:149,240,289 | A/G | — | likely benign |
| rs886060216 | 5:149,240,332 | A/G | — | uncertain significance |
| rs372592244 | 5:149,240,407 | T/A | — | uncertain significance |
| rs1760108860 | 5:149,240,420 | A/G | — | uncertain significance |
| rs1357199744 | 5:149,240,463 | G/A | — | uncertain significance |
| rs2480410926 | 5:149,240,466 | T/A | — | uncertain significance |
| rs147000954 | 5:149,240,473 | G/A | — | conflicting classifications of pathogenicity |
| rs2113488146 | 5:149,240,479 | G/A | — | likely benign |
| rs1322756731 | 5:149,240,482 | T/G | — | likely benign |
| rs138315990 | 5:149,240,492 | C/A | — | conflicting classifications of pathogenicity |
| rs765192034 | 5:149,240,507 | T/A | — | uncertain significance |
| rs762550485 | 5:149,240,508 | T/C | — | uncertain significance |
| rs376909494 | 5:149,240,515 | C/T | — | conflicting classifications of pathogenicity |
| rs542180384 | 5:149,240,516 | G/A | — | conflicting classifications of pathogenicity |
| rs2480411493 | 5:149,240,517 | G/A | — | uncertain significance |
| rs753027862 | 5:149,240,518 | C/T | — | likely benign |
| rs778365507 | 5:149,240,529 | C/T | — | uncertain significance |
| rs755796767 | 5:149,240,530 | G/A | — | likely benign |
| rs757358359 | 5:149,240,531 | G/A | — | uncertain significance |
| rs893912674 | 5:149,240,533 | T/A | — | likely benign |
| rs1581142001 | 5:149,240,535 | C/A | — | uncertain significance |
| rs779075342 | 5:149,240,549 | G/A | — | likely benign |
| rs10045293 | 5:149,240,571 | A/T | — | benign |
| rs201462717 | 5:149,242,670 | C/A | — | likely benign |
| rs1382186195 | 5:149,242,675 | C/T | — | conflicting classifications of pathogenicity |
| rs1561671507 | 5:149,242,681 | C/T | — | pathogenic |
| rs2113494553 | 5:149,242,682 | C/G | — | uncertain significance |
| rs779197931 | 5:149,242,692 | C/T | — | likely benign |
| rs750503504 | 5:149,242,693 | G/A | — | conflicting classifications of pathogenicity |
| rs1760201855 | 5:149,242,695 | C/G | — | uncertain significance |
| rs780450680 | 5:149,242,709 | T/G | — | uncertain significance |
| rs1451222649 | 5:149,242,710 | C/A | — | uncertain significance |
| rs2480421334 | 5:149,242,715 | C/A | — | uncertain significance |
| rs2480421468 | 5:149,242,733 | T/C | — | uncertain significance |
| rs769636229 | 5:149,242,740 | G/A | — | likely benign |
| rs777373238 | 5:149,242,753 | A/G | — | uncertain significance |
| rs749307093 | 5:149,242,755 | C/T | — | likely benign |
| rs770823436 | 5:149,242,756 | G/A | — | uncertain significance |
| rs2113494891 | 5:149,242,758 | C/T | — | likely benign |
| rs979416907 | 5:149,242,762 | C/T | — | pathogenic |
| rs10067462 | 5:149,242,764 | C/T | — | benign |
| rs145718445 | 5:149,242,771 | C/T | — | uncertain significance |
| rs771530664 | 5:149,242,772 | G/A | — | uncertain significance |
Showing 100 of 735 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.