PDE1A

phosphodiesterase 1A

Summary

Cyclic nucleotide phosphodiesterases (PDEs) play a role in signal transduction by regulating intracellular cyclic nucleotide concentrations through hydrolysis of cAMP and/or cGMP to their respective nucleoside 5-prime monophosphates. Members of the PDE1 family, such as PDE1A, are Ca(2+)/calmodulin (see CALM1; MIM 114180)-dependent PDEs (CaM-PDEs) that are activated by calmodulin in the presence of Ca(2+) (Michibata et al., 2001 [PubMed 11342109]; Fidock et al., 2002 [PubMed 11747989]).[supplied by OMIM, Oct 2009]

Known Variants68 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs781151204	2:183,011,873	G/A	—	uncertain significance
rs1594617	2:183,028,456	C/A	intron variant	—
rs78879279	2:183,032,778	T/C	—	benign
rs2276612	2:183,033,202	A/G	—	benign
rs3769810	2:183,037,246	A/G	intron variant	—
rs568784697	2:183,050,627	G/T	—	uncertain significance
rs775832177	2:183,050,682	T/G	—	uncertain significance
rs1416936808	2:183,050,700	C/T	—	uncertain significance
rs775719902	2:183,050,781	T/C	—	likely benign
rs145083118	2:183,050,795	A/G	—	uncertain significance
rs765243376	2:183,050,802	T/C	—	uncertain significance
rs1368216	2:183,050,963	C/G	—	benign
rs202096938	2:183,051,210	G/A	—	uncertain significance
rs1480063283	2:183,051,247	G/A	—	uncertain significance
rs2468380089	2:183,051,299	T/C	—	uncertain significance
rs7597711	2:183,051,421	A/G	—	benign
rs10930991	2:183,051,449	T/C	—	benign
rs10497595	2:183,053,644	T/A	—	benign
rs3769796	2:183,053,658	C/G	—	benign
rs12475647	2:183,064,971	G/T	intron variant	—
rs200353420	2:183,066,391	C/A	—	benign
rs767344606	2:183,066,437	T/C	—	uncertain significance
rs74397875	2:183,070,580	G/A	—	benign
rs1344773	2:183,070,619	A/T	—	benign
rs55747252	2:183,070,911	G/A	—	benign
rs4666821	2:183,077,254	G/A	—	—
rs551162749	2:183,083,677	C/T	—	—
rs6741055	2:183,086,648	C/T	—	—
rs3754929	2:183,088,584	G/A	—	benign
rs1392281752	2:183,088,628	G/A	—	uncertain significance
rs758752220	2:183,088,685	G/A	—	uncertain significance
rs113792673	2:183,094,481	T/C	—	—
rs73977312	2:183,094,673	A/C	—	benign
rs767032766	2:183,094,837	A/C	—	uncertain significance
rs16822903	2:183,095,509	A/G	—	benign
rs199972789	2:183,095,749	C/T	—	likely benign
rs768383143	2:183,095,750	G/A	—	uncertain significance
rs148461027	2:183,099,170	C/T	—	uncertain significance
rs375942859	2:183,099,171	G/A	—	likely benign
rs1305325080	2:183,104,900	G/C	—	uncertain significance
rs761155078	2:183,104,927	C/T	—	uncertain significance
rs771208488	2:183,104,976	C/A	—	uncertain significance
rs2623435	2:183,106,427	C/G	—	benign
rs182089527	2:183,106,640	A/C	—	likely benign
rs2568667	2:183,106,758	T/G	—	benign
rs6740124	2:183,106,825	T/C	—	benign
rs140837487	2:183,106,886	T/A	intron variant	—
rs2170403	2:183,106,997	G/T	—	benign
rs3769779	2:183,128,826	T/C	—	benign
rs757494514	2:183,129,059	C/T	—	uncertain significance
rs747041009	2:183,129,095	C/T	—	uncertain significance
rs2469138499	2:183,129,139	A/G	—	uncertain significance
rs10930999	2:183,129,242	G/A	—	benign
rs115966519	2:183,189,669	C/G	regulatory region variant	—
rs10931009	2:183,240,857	G/C	—	—
rs192436108	2:183,265,020	T/A	intron variant	—
rs62188260	2:183,292,913	C/T	intron variant	—
rs13405173	2:183,313,814	A/G	—	—
rs1430143	2:183,356,945	A/C	intron variant	—
rs2887218	2:183,376,487	T/A	—	—
rs67483153	2:183,386,890	G/A	—	benign
rs1690619250	2:183,387,037	G/C	—	uncertain significance
rs2303890	2:183,387,612	T/C	—	benign
rs576200695	2:183,408,001	A/G	—	—
rs1918700	2:183,449,725	G/A	—	—
rs2049666	2:183,459,376	C/T	regulatory region variant	—
rs71427857	2:183,497,840	G/A	—	—
rs528385365	2:183,570,909	C/T	—	—

Gene information from NCBI Gene. Variant classifications from ClinVar.