rs114790192
This variant is located in the PDE5A gene.
▶ClinVar annotation
Benign★★★☆
2 submitters2 publicationsAbout PDE5A
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]
View all PDE5A variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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