PDE4DIP

phosphodiesterase 4D interacting protein

Summary

The protein encoded by this gene serves to anchor phosphodiesterase 4D to the Golgi/centrosome region of the cell. Defects in this gene may be a cause of myeloproliferative disorder (MBD) associated with eosinophilia. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2010]

Known Variants32 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1553638882	1:144,852,390	C/T	—	benign
rs183737546	1:144,852,450	G/A	—	uncertain significance
rs377413742	1:144,857,008	G/T	—	likely benign
rs141508658	1:144,863,439	C/G	—	likely benign
rs139494606	1:144,866,687	C/T	—	uncertain significance
rs1778155	1:144,874,815	T/C	missense variant	—
rs148523430	1:144,877,255	T/C	—	likely pathogenic
rs137872268	1:144,879,054	T/C	missense variant	—
rs139264748	1:144,879,331	T/C	—	likely benign
rs147815016	1:144,881,463	C/T	—	likely benign
rs141315681	1:144,881,520	G/A	—	likely pathogenic
rs199509148	1:144,881,578	C/T	—	likely benign
rs1553559824	1:144,892,510	A/G	—	likely benign
rs112427713	1:144,897,876	C/G	—	—
rs781809327	1:144,915,592	C/T	—	likely benign
rs1698683	1:144,916,676	C/T	—	benign
rs201567215	1:144,921,856	C/T	—	likely benign
rs151144469	1:144,921,877	G/A	—	likely benign
rs146047382	1:144,921,910	T/C	—	likely benign
rs71664015	1:144,921,924	G/A	—	likely benign
rs144426043	1:144,922,238	T/G	—	likely benign
rs2455994	1:144,922,523	C/T	—	benign
rs140994384	1:144,930,830	G/A	—	likely benign
rs143410813	1:144,930,977	A/C	—	likely benign
rs41315684	1:144,931,087	T/C	—	benign
rs2551527710	1:144,931,283	C/T	—	likely benign
rs782597157	1:144,931,342	C/T	—	pathogenic
rs61805374	1:144,931,387	T/G	—	not provided
rs41315685	1:144,931,461	A/T	—	benign
rs2477088	1:144,936,353	T/G	—	—
rs587607578	1:144,964,742	G/C	—	—
rs2863344	1:144,992,181	A/C	—	—

Gene information from NCBI Gene. Variant classifications from ClinVar.