PRDM5

PR/SET domain 5

Summary

The protein encoded by this gene is a transcription factor of the PR-domain protein family. It contains a PR-domain and multiple zinc finger motifs. Transcription factors of the PR-domain family are known to be involved in cell differentiation and tumorigenesis. [provided by RefSeq, Jul 2008]

Known Variants556 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs558671397	4:121,616,090	A/G	—	uncertain significance
rs181244989	4:121,616,112	T/A	—	uncertain significance
rs886059040	4:121,616,125	A/G	—	uncertain significance
rs77157999	4:121,616,146	A/G	—	conflicting classifications of pathogenicity
rs746723307	4:121,616,262	C/T	—	likely benign
rs2529716019	4:121,616,269	G/A	—	likely benign
rs376740879	4:121,616,272	G/A	—	uncertain significance
rs1457119801	4:121,616,285	T/C	—	uncertain significance
rs776010069	4:121,616,287	G/T	—	likely benign
rs970486399	4:121,616,297	A/G	—	uncertain significance
rs767571327	4:121,616,308	G/A	—	conflicting classifications of pathogenicity
rs756604293	4:121,616,311	G/A	—	likely benign
rs928901991	4:121,616,312	T/C	—	uncertain significance
rs764476053	4:121,616,326	A/G	—	likely benign
rs757606737	4:121,616,350	T/C	—	likely benign
rs2529716884	4:121,616,354	G/C	—	uncertain significance
rs1159152264	4:121,616,355	C/T	—	uncertain significance
rs1451159185	4:121,616,364	G/A	—	uncertain significance
rs1306216582	4:121,616,366	T/C	—	conflicting classifications of pathogenicity
rs754600058	4:121,616,368	G/A	—	likely benign
rs1009292984	4:121,616,389	T/G	—	likely benign
rs387907110	4:121,616,391	G/A	stop gained	pathogenic
rs2529717325	4:121,616,401	T/C	—	likely benign
rs1734389835	4:121,616,408	A/T	—	uncertain significance
rs759782529	4:121,616,418	C/T	—	conflicting classifications of pathogenicity
rs551558272	4:121,616,425	A/G	—	likely benign
rs912947519	4:121,616,447	G/T	—	likely benign
rs754339444	4:121,616,449	C/T	—	likely benign
rs11726937	4:121,622,149	G/A	intron variant	—
rs79397936	4:121,631,178	C/T	—	benign
rs909126820	4:121,631,446	A/G	—	likely benign
rs771011032	4:121,631,451	A/C	—	likely benign
rs2529842151	4:121,631,454	C/T	—	likely benign
rs2529842206	4:121,631,457	A/C	—	likely benign
rs2529842392	4:121,631,467	A/C	—	uncertain significance
rs147796327	4:121,631,470	C/T	—	conflicting classifications of pathogenicity
rs184132410	4:121,631,479	C/T	—	likely benign
rs2529842773	4:121,631,489	G/T	—	uncertain significance
rs764095834	4:121,631,494	C/T	—	conflicting classifications of pathogenicity
rs371714829	4:121,631,495	G/A	—	uncertain significance
rs1736785093	4:121,631,500	C/T	—	likely benign
rs1490743354	4:121,631,520	G/A	—	pathogenic
rs2529843313	4:121,631,526	G/A	—	pathogenic
rs1736789065	4:121,631,539	G/A	—	likely benign
rs752221668	4:121,631,540	C/T	—	uncertain significance
rs755802156	4:121,631,542	G/T	—	likely pathogenic
rs374866663	4:121,631,548	T/A	—	likely benign
rs148837515	4:121,631,551	G/A	—	likely benign
rs757623680	4:121,631,558	T/A	—	uncertain significance
rs142515463	4:121,631,559	A/G	—	conflicting classifications of pathogenicity
rs116026637	4:121,631,560	C/T	—	likely benign
rs779905301	4:121,631,561	G/C	—	uncertain significance
rs200669512	4:121,631,563	C/T	—	likely benign
rs768889556	4:121,631,578	A/G	—	likely benign
rs776656429	4:121,631,579	C/A	—	likely benign
rs370193458	4:121,631,580	A/G	—	likely benign
rs138821238	4:121,631,768	G/A	—	likely benign
rs114245360	4:121,631,898	G/A	—	benign
rs114750513	4:121,631,907	A/G	—	benign
rs180976345	4:121,650,475	A/G	intron variant	—
rs79852959	4:121,670,096	A/G	intron variant	—
rs2476674713	4:121,675,692	C/G	—	likely benign
rs370824618	4:121,675,696	A/G	—	likely benign
rs750261741	4:121,675,697	T/A	—	likely benign
rs758370752	4:121,675,698	A/T	—	likely benign
rs201965676	4:121,675,700	A/G	—	conflicting classifications of pathogenicity
rs140622920	4:121,675,718	G/A	—	uncertain significance
rs1246127390	4:121,675,721	C/T	—	uncertain significance
rs1463793614	4:121,675,722	G/T	—	uncertain significance
rs150476884	4:121,675,726	G/A	—	conflicting classifications of pathogenicity
rs138442036	4:121,675,756	T/C	—	likely benign
rs1744456569	4:121,675,762	T/C	—	likely benign
rs1365380507	4:121,675,765	A/G	—	likely benign
rs1470641001	4:121,675,777	T/C	—	likely benign
rs763317084	4:121,675,781	T/C	—	uncertain significance
rs573435327	4:121,675,783	G/A	—	likely benign
rs2476679664	4:121,675,789	C/T	—	likely benign
rs1322124232	4:121,675,793	C/T	—	uncertain significance
rs1744464153	4:121,675,798	A/C	—	conflicting classifications of pathogenicity
rs843559	4:121,676,080	A/C	—	benign
rs11733915	4:121,694,912	T/A	—	—
rs3804163	4:121,698,199	G/A	—	benign
rs2477056417	4:121,698,324	C/T	—	likely benign
rs1748286011	4:121,698,329	T/C	—	likely benign
rs2477056608	4:121,698,330	A/G	—	likely benign
rs890126376	4:121,698,331	C/T	—	likely benign
rs2477056794	4:121,698,333	A/G	—	likely benign
rs181473034	4:121,698,353	C/A	—	likely benign
rs2477057976	4:121,698,354	C/T	—	uncertain significance
rs1354865739	4:121,698,364	C/T	—	uncertain significance
rs772781251	4:121,698,371	T/C	—	likely benign
rs373140800	4:121,698,373	T/A	—	uncertain significance
rs2149226872	4:121,698,380	G/T	—	uncertain significance
rs2477059455	4:121,698,389	T/C	—	likely benign
rs1200346729	4:121,698,398	A/G	—	likely benign
rs754918140	4:121,698,403	A/G	—	uncertain significance
rs2477060542	4:121,698,404	T/C	—	likely benign
rs1197877424	4:121,698,407	A/G	—	likely benign
rs1748305634	4:121,698,408	C/T	—	uncertain significance
rs2477061994	4:121,698,428	T/G	—	likely benign

Showing 100 of 556 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.