PDCD10

programmed cell death 10

Summary

This gene encodes an evolutionarily conserved protein associated with cell apoptosis. The protein interacts with the serine/threonine protein kinase MST4 to modulate the extracellular signal-regulated kinase (ERK) pathway. It also interacts with and is phosphoryated by serine/threonine kinase 25, and is thought to function in a signaling pathway essential for vascular developent. Mutations in this gene are one cause of cerebral cavernous malformations, which are vascular malformations that cause seizures and cerebral hemorrhages. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]

Known Variants104 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs528574350	3:167,401,757	C/T	—	uncertain significance
rs190941416	3:167,401,811	C/A	—	likely benign
rs886058158	3:167,401,875	A/G	—	uncertain significance
rs183589284	3:167,401,897	T/G	—	uncertain significance
rs886058159	3:167,401,922	G/A	—	uncertain significance
rs886058160	3:167,401,955	G/A	—	uncertain significance
rs758404072	3:167,401,957	T/C	—	uncertain significance
rs886058161	3:167,402,009	T/A	—	uncertain significance
rs886058162	3:167,402,033	A/G	—	uncertain significance
rs374587061	3:167,402,101	C/A	—	uncertain significance
rs1002741108	3:167,402,105	A/G	—	likely benign
rs1719342163	3:167,402,137	G/A	—	likely pathogenic
rs1404676956	3:167,402,149	G/A	—	pathogenic
rs151267430	3:167,402,161	C/T	—	conflicting classifications of pathogenicity
rs778703454	3:167,402,162	G/A	—	likely benign
rs1307939409	3:167,402,164	A/T	—	uncertain significance
rs1553758385	3:167,402,179	T/G	—	pathogenic
rs78782877	3:167,402,236	T/C	—	benign
rs191407044	3:167,402,274	A/G	—	benign
rs7640968	3:167,402,444	A/C	—	benign
rs747383685	3:167,405,021	C/T	—	pathogenic
rs1719722974	3:167,405,022	T/C	—	uncertain significance
rs2475658935	3:167,405,037	T/C	—	uncertain significance
rs1559944562	3:167,405,044	T/C	—	uncertain significance
rs1553759059	3:167,405,069	G/C	—	pathogenic
rs1559944602	3:167,405,083	C/A	—	likely pathogenic
rs1052911180	3:167,405,084	T/C	—	likely benign
rs1577317859	3:167,405,105	C/T	—	pathogenic
rs760515050	3:167,405,112	C/T	—	likely benign
rs367568906	3:167,405,394	T/C	—	benign
rs1553759139	3:167,405,398	C/T	—	pathogenic
rs1390197622	3:167,405,399	G/T	—	uncertain significance
rs2108375013	3:167,405,403	C/A	—	uncertain significance
rs1719758355	3:167,405,415	G/T	—	likely pathogenic
rs976585767	3:167,405,421	A/C	—	pathogenic
rs1719762092	3:167,405,459	C/A	—	pathogenic
rs1466400887	3:167,405,463	T/C	—	uncertain significance
rs2475664921	3:167,405,473	G/T	—	uncertain significance
rs1266044962	3:167,405,476	A/G	—	uncertain significance
rs1433322333	3:167,405,479	T/G	—	uncertain significance
rs1559945126	3:167,405,483	T/C	—	pathogenic
rs1559945136	3:167,405,484	G/C	—	pathogenic
rs2475665662	3:167,405,500	A/G	—	likely benign
rs3804610	3:167,413,168	T/C	—	benign
rs200959967	3:167,413,338	G/A	—	likely benign
rs1559952217	3:167,413,382	A/C	—	pathogenic
rs1559952220	3:167,413,383	C/T	—	likely pathogenic
rs1577329627	3:167,413,385	T/A	—	pathogenic
rs2475720278	3:167,413,387	A/C	—	likely pathogenic
rs1577329665	3:167,413,394	G/A	—	pathogenic
rs927454227	3:167,413,398	A/G	—	likely benign
rs182501365	3:167,413,402	C/A	—	uncertain significance
rs1553760900	3:167,413,457	G/A	—	pathogenic
rs759198421	3:167,413,467	G/A	—	likely benign
rs767142729	3:167,413,468	T/C	—	uncertain significance
rs2475721395	3:167,413,477	T/C	—	uncertain significance
rs1303470125	3:167,413,478	G/A	—	pathogenic
rs1357917630	3:167,413,496	G/A	—	pathogenic
rs1168525956	3:167,413,508	A/G	—	uncertain significance
rs2475721826	3:167,413,509	C/T	—	likely benign
rs1559952467	3:167,413,511	C/G	—	likely pathogenic
rs777634962	3:167,414,791	C/T	—	uncertain significance
rs894107678	3:167,414,792	G/C	—	uncertain significance
rs2475730421	3:167,414,794	T/C	—	uncertain significance
rs1553761217	3:167,414,796	C/T	—	pathogenic
rs1218260194	3:167,414,811	G/A	—	uncertain significance
rs377093246	3:167,414,837	G/A	—	likely benign
rs562763010	3:167,414,851	C/T	—	uncertain significance
rs201316215	3:167,414,852	G/A	—	likely benign
rs2475731521	3:167,414,857	T/A	—	pathogenic
rs147071945	3:167,414,870	T/C	—	likely benign
rs766570133	3:167,414,872	T/G	—	uncertain significance
rs1720895403	3:167,414,887	G/A	—	pathogenic
rs2108409609	3:167,414,905	C/A	—	pathogenic
rs1720896761	3:167,414,906	T/C	—	likely benign
rs886058163	3:167,414,925	G/A	—	uncertain significance
rs187849833	3:167,416,366	G/A	upstream gene variant	—
rs773691623	3:167,416,939	T/C	—	not provided
rs374384046	3:167,419,937	A/G	—	not provided
rs116154329	3:167,422,537	C/T	—	benign
rs1341701161	3:167,422,619	T/C	—	likely benign
rs1553762839	3:167,422,629	C/T	—	pathogenic
rs2475799219	3:167,422,630	C/T	—	uncertain significance
rs2475799861	3:167,422,649	A/C	—	uncertain significance
rs201796692	3:167,422,676	C/T	—	uncertain significance
rs1057517786	3:167,422,677	G/A	stop gained	pathogenic
rs369606517	3:167,422,681	T/C	—	likely benign
rs1314521430	3:167,422,684	C/T	—	pathogenic
rs748153515	3:167,432,862	G/C	—	not provided
rs541610164	3:167,433,461	T/C	—	not provided
rs779988645	3:167,436,985	T/G	—	not provided
rs1208666143	3:167,437,833	A/G	—	likely benign
rs1723420400	3:167,437,875	G/A	—	uncertain significance
rs764290272	3:167,437,878	T/C	—	uncertain significance
rs138275885	3:167,437,888	T/C	—	uncertain significance
rs751478724	3:167,437,901	T/C	—	likely benign
rs146858915	3:167,438,070	A/G	—	benign
rs147072468	3:167,440,193	A/C	—	not provided
rs912904786	3:167,450,992	G/A	—	not provided
rs554408082	3:167,452,480	G/A	—	likely benign

Showing 100 of 104 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.