PDE5A
phosphodiesterase 5A
Summary
This gene encodes a cGMP-binding, cGMP-specific phosphodiesterase, a member of the cyclic nucleotide phosphodiesterase family. This phosphodiesterase specifically hydrolyzes cGMP to 5'-GMP. It is involved in the regulation of intracellular concentrations of cyclic nucleotides and is important for smooth muscle relaxation in the cardiovascular system. Alternative splicing of this gene results in three transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
Known Variants51 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs202223380 | 4:120,419,788 | T/C | — | uncertain significance |
| rs115920291 | 4:120,422,391 | C/T | — | benign |
| rs149385790 | 4:120,422,407 | T/G | missense variant | — |
| rs531645466 | 4:120,423,738 | T/A | — | uncertain significance |
| rs144204269 | 4:120,423,762 | T/G | — | benign |
| rs2545794438 | 4:120,423,765 | C/T | — | uncertain significance |
| rs756207036 | 4:120,423,791 | G/C | — | likely benign |
| rs114886951 | 4:120,423,809 | A/G | — | likely benign |
| rs200968351 | 4:120,425,702 | T/C | — | uncertain significance |
| rs139979143 | 4:120,427,058 | C/T | — | likely benign |
| rs142272118 | 4:120,427,091 | C/T | — | likely benign |
| rs144068684 | 4:120,429,672 | C/A | regulatory region variant | — |
| rs61729464 | 4:120,432,277 | T/G | — | benign |
| rs199578826 | 4:120,432,280 | A/G | — | likely benign |
| rs200836113 | 4:120,440,238 | A/G | — | likely benign |
| rs201618319 | 4:120,440,257 | A/G | — | uncertain significance |
| rs116396619 | 4:120,440,278 | A/G | — | benign |
| rs1726111452 | 4:120,442,205 | C/T | — | uncertain significance |
| rs2545816668 | 4:120,446,726 | T/C | — | uncertain significance |
| rs1172026377 | 4:120,463,731 | G/T | — | uncertain significance |
| rs114790192 | 4:120,463,748 | T/G | — | benign |
| rs148360694 | 4:120,463,761 | C/T | — | likely benign |
| rs1332374518 | 4:120,463,778 | G/T | — | uncertain significance |
| rs769741817 | 4:120,473,740 | G/A | — | uncertain significance |
| rs1259839893 | 4:120,473,768 | G/C | — | uncertain significance |
| rs937218088 | 4:120,473,777 | T/C | — | uncertain significance |
| rs770211756 | 4:120,474,798 | A/G | — | uncertain significance |
| rs199921025 | 4:120,474,830 | A/C | — | uncertain significance |
| rs548853969 | 4:120,481,454 | G/A | — | uncertain significance |
| rs202018090 | 4:120,484,048 | A/T | — | likely benign |
| rs200428296 | 4:120,484,052 | G/A | — | uncertain significance |
| rs1727795885 | 4:120,484,100 | A/G | — | uncertain significance |
| rs183868303 | 4:120,484,109 | G/C | — | uncertain significance |
| rs2545851703 | 4:120,486,508 | C/T | — | uncertain significance |
| rs141970683 | 4:120,488,257 | C/T | — | uncertain significance |
| rs1560619144 | 4:120,488,286 | G/A | — | uncertain significance |
| rs6842674 | 4:120,512,508 | T/C | intron variant | — |
| rs9998919 | 4:120,516,693 | A/C | — | — |
| rs144600278 | 4:120,517,687 | A/G | — | likely benign |
| rs11737395 | 4:120,520,704 | C/A | — | — |
| rs200971951 | 4:120,527,940 | C/T | — | uncertain significance |
| rs201124508 | 4:120,527,967 | A/G | — | uncertain significance |
| rs144279361 | 4:120,528,195 | G/T | — | uncertain significance |
| rs201435038 | 4:120,528,223 | A/G | — | uncertain significance |
| rs76373430 | 4:120,528,249 | T/A | — | likely benign |
| rs770491205 | 4:120,528,331 | T/C | — | uncertain significance |
| rs778424747 | 4:120,528,337 | C/T | — | uncertain significance |
| rs150282561 | 4:120,528,342 | C/T | — | uncertain significance |
| rs1027737715 | 4:120,528,373 | A/T | — | uncertain significance |
| rs7672519 | 4:120,544,112 | C/G | — | — |
| rs200775504 | 4:120,549,730 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.