PDE11A

phosphodiesterase 11A

Summary

The 3',5'-cyclic nucleotides cAMP and cGMP function as second messengers in a wide variety of signal transduction pathways. 3',5'-cyclic nucleotide phosphodiesterases (PDEs) catalyze the hydrolysis of cAMP and cGMP to the corresponding 5'-monophosphates and provide a mechanism to downregulate cAMP and cGMP signaling. This gene encodes a member of the PDE protein superfamily. Mutations in this gene are a cause of Cushing disease and adrenocortical hyperplasia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Known Variants149 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2468138045	2:178,494,137	A/G	—	uncertain significance
rs140155138	2:178,494,181	G/A	—	uncertain significance
rs144881528	2:178,494,194	C/G	—	likely benign
rs370058975	2:178,494,212	G/A	—	uncertain significance
rs200504859	2:178,494,259	G/T	—	uncertain significance
rs138134819	2:178,494,284	C/T	—	uncertain significance
rs79400048	2:178,494,290	C/T	—	conflicting classifications of pathogenicity
rs374942202	2:178,528,600	C/A	—	benign
rs74357545	2:178,528,608	T/C	—	likely benign
rs765007321	2:178,528,609	G/T	—	uncertain significance
rs371810618	2:178,528,622	A/G	—	uncertain significance
rs1197698140	2:178,528,629	C/G	—	uncertain significance
rs61306957	2:178,528,641	G/C	—	uncertain significance
rs79384192	2:178,528,664	C/T	—	uncertain significance
rs13025391	2:178,528,703	C/T	—	benign
rs911385258	2:178,534,252	C/G	—	uncertain significance
rs770658136	2:178,534,270	A/G	—	uncertain significance
rs6433687	2:178,534,324	A/G	—	benign
rs78996581	2:178,540,201	C/T	—	likely benign
rs750723275	2:178,540,234	C/T	—	uncertain significance
rs539849333	2:178,540,247	C/G	—	likely benign
rs3770016	2:178,540,293	G/A	—	benign
rs765162890	2:178,545,555	G/A	—	uncertain significance
rs61745593	2:178,545,589	G/A	—	benign
rs2468262960	2:178,545,614	A/G	—	uncertain significance
rs200101345	2:178,545,623	G/A	—	uncertain significance
rs753787322	2:178,562,065	G/C	—	uncertain significance
rs756779426	2:178,562,069	A/G	—	uncertain significance
rs146436478	2:178,562,071	C/T	—	benign
rs150182442	2:178,562,072	G/A	—	uncertain significance
rs886043416	2:178,562,097	G/A	—	uncertain significance
rs1323431801	2:178,562,115	G/A	—	uncertain significance
rs746554475	2:178,562,139	G/A	—	likely benign
rs374657859	2:178,562,174	G/A	—	likely benign
rs776319665	2:178,565,862	A/C	—	uncertain significance
rs149627351	2:178,565,870	G/T	—	likely benign
rs144340688	2:178,565,872	C/T	—	uncertain significance
rs199620084	2:178,565,885	G/A	—	likely benign
rs6718702	2:178,576,052	T/C	intron variant	—
rs765711158	2:178,576,496	C/T	—	uncertain significance
rs35194777	2:178,576,505	G/A	—	benign
rs1348803636	2:178,576,549	A/G	—	uncertain significance
rs774390793	2:178,576,554	A/T	—	uncertain significance
rs74666005	2:178,576,564	C/T	—	uncertain significance
rs117534006	2:178,576,579	C/T	—	benign
rs754995449	2:178,576,606	T/C	—	uncertain significance
rs79494531	2:178,592,379	C/T	—	benign
rs78730670	2:178,592,395	C/T	—	likely benign
rs201629965	2:178,592,397	C/T	—	benign
rs2468372387	2:178,592,424	C/T	—	uncertain significance
rs147061705	2:178,592,443	T/C	—	likely benign
rs146111360	2:178,592,445	G/C	—	uncertain significance
rs539571955	2:178,592,448	C/A	—	uncertain significance
rs77341035	2:178,592,452	C/A	—	benign
rs760731175	2:178,592,453	C/T	—	uncertain significance
rs77597060	2:178,592,456	T/C	—	uncertain significance
rs1064795513	2:178,592,495	T/A	—	pathogenic
rs748751920	2:178,592,795	T/C	—	uncertain significance
rs373487547	2:178,592,819	T/A	—	uncertain significance
rs1471297033	2:178,592,822	T/C	—	uncertain significance
rs143303102	2:178,592,831	C/T	—	uncertain significance
rs376525903	2:178,592,834	C/T	—	uncertain significance
rs139784666	2:178,592,835	G/A	—	benign
rs77934668	2:178,592,864	C/T	—	conflicting classifications of pathogenicity
rs771254375	2:178,592,878	G/C	stop gained	pathogenic
rs1307070302	2:178,634,065	C/T	—	uncertain significance
rs78384547	2:178,634,082	G/A	—	uncertain significance
rs140152143	2:178,634,096	T/C	—	benign
rs771860947	2:178,634,111	A/C	—	likely benign
rs13413635	2:178,680,431	A/G	intron variant	—
rs6433698	2:178,681,534	C/T	—	benign
rs1204600532	2:178,681,577	G/C	—	likely benign
rs149795546	2:178,681,585	A/G	—	benign
rs138427178	2:178,681,638	A/G	—	conflicting classifications of pathogenicity
rs6720891	2:178,682,603	T/C	—	benign
rs777556697	2:178,682,604	G/A	—	uncertain significance
rs2105581875	2:178,682,644	G/A	—	likely pathogenic
rs3821010	2:178,682,655	A/G	—	benign
rs371518765	2:178,682,656	T/C	—	benign
rs7567851	2:178,684,720	G/C	intron variant	—
rs13386827	2:178,684,921	A/G	—	benign
rs149543095	2:178,684,964	C/T	—	uncertain significance
rs1331676552	2:178,684,994	C/G	—	uncertain significance
rs372031081	2:178,704,991	C/T	—	uncertain significance
rs140538000	2:178,704,993	C/T	—	benign
rs776044222	2:178,705,040	C/G	—	uncertain significance
rs1553481032	2:178,705,081	T/C	—	uncertain significance
rs1837164	2:178,716,601	A/T	intron variant	—
rs142247133	2:178,740,596	C/G	—	uncertain significance
rs748169188	2:178,740,600	A/G	—	likely benign
rs773995449	2:178,740,613	G/C	—	uncertain significance
rs74514411	2:178,740,656	G/A	—	likely benign
rs200330914	2:178,762,789	G/A	—	uncertain significance
rs955218387	2:178,762,799	C/T	—	uncertain significance
rs71423514	2:178,762,824	T/C	—	benign
rs779083062	2:178,762,850	G/A	—	uncertain significance
rs143428645	2:178,762,917	T/A	—	likely benign
rs770579834	2:178,769,816	T/C	—	likely benign
rs769095538	2:178,769,837	A/T	—	likely pathogenic
rs767774556	2:178,769,916	T/C	—	uncertain significance

Showing 100 of 149 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.