PRMT7

protein arginine methyltransferase 7

Summary

This gene encodes a member of the protein arginine N-methyltransferase family of proteins. The encoded enzyme transfers single methyl groups to arginine residues to generate monomethylarginines on histone proteins as well as other protein substrates. This enzyme plays a role in a wide range of biological processes, including neuronal differentiation, male germ line imprinting, small nuclear ribonucleoprotein biogenesis, and regulation of the Wnt signaling pathway. Mutations in this gene underlie multiple related syndromes in human patients characterized by intellectual disability, short stature and other features. The encoded protein may promote breast cancer cell invasion and metastasis in human patients. [provided by RefSeq, May 2017]

Known Variants210 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs531483697	16:68,345,000	C/T	—	likely benign
rs2543549320	16:68,345,942	C/G	—	uncertain significance
rs963987735	16:68,349,799	G/A	—	uncertain significance
rs756452564	16:68,349,911	C/T	—	uncertain significance
rs773731513	16:68,349,971	T/C	—	uncertain significance
rs149170494	16:68,349,977	G/C	missense variant	pathogenic
rs71393988	16:68,351,751	A/G	—	—
rs2151436426	16:68,355,331	C/A	—	pathogenic
rs1341012628	16:68,355,369	A/C	—	uncertain significance
rs7203220	16:68,356,187	A/C	downstream gene variant	—
rs368653869	16:68,358,592	A/C	—	uncertain significance
rs2082897416	16:68,358,601	C/T	—	pathogenic
rs756722562	16:68,358,610	C/T	—	uncertain significance
rs201398485	16:68,358,619	G/A	—	uncertain significance
rs2544232922	16:68,358,675	C/T	—	likely benign
rs371698853	16:68,358,677	C/T	—	conflicting classifications of pathogenicity
rs2544234115	16:68,358,689	C/T	—	uncertain significance
rs1243665152	16:68,358,707	C/A	—	uncertain significance
rs765241419	16:68,358,710	G/T	—	uncertain significance
rs199750494	16:68,358,712	G/A	—	uncertain significance
rs751233188	16:68,358,714	C/T	—	likely benign
rs377261290	16:68,358,715	G/A	—	uncertain significance
rs367827184	16:68,358,732	C/T	—	likely benign
rs749656743	16:68,358,733	G/A	—	uncertain significance
rs768950720	16:68,358,736	G/A	—	likely pathogenic
rs2082913032	16:68,358,738	A/G	—	uncertain significance
rs371544644	16:68,358,751	C/G	—	likely benign
rs1480836801	16:68,363,002	A/G	—	uncertain significance
rs2151557862	16:68,363,006	T/G	—	uncertain significance
rs1014959895	16:68,363,008	G/T	—	pathogenic
rs2151558358	16:68,363,033	T/A	—	likely pathogenic
rs753033088	16:68,363,048	A/G	—	uncertain significance
rs2151558937	16:68,363,060	A/G	—	uncertain significance
rs768510179	16:68,363,072	G/A	—	uncertain significance
rs2151559206	16:68,363,082	G/C	—	likely pathogenic
rs113721763	16:68,363,090	C/T	—	benign
rs11647672	16:68,369,932	A/G	intron variant	—
rs182075717	16:68,371,382	G/A	—	uncertain significance
rs72792215	16:68,371,390	C/A	—	likely benign
rs138764613	16:68,371,393	G/C	—	likely benign
rs771868763	16:68,371,423	C/T	—	likely benign
rs200195216	16:68,371,424	G/A	—	uncertain significance
rs369694211	16:68,371,425	G/A	—	uncertain significance
rs763564051	16:68,371,453	C/T	—	likely benign
rs764463683	16:68,371,454	G/A	—	uncertain significance
rs138763605	16:68,371,469	G/A	—	conflicting classifications of pathogenicity
rs572531878	16:68,371,483	C/T	—	benign
rs3785114	16:68,372,323	C/G	intron variant	—
rs775089206	16:68,373,205	T/G	—	likely benign
rs2544817810	16:68,373,241	T/C	—	uncertain significance
rs2544817988	16:68,373,244	C/G	—	uncertain significance
rs753981600	16:68,373,246	C/T	—	uncertain significance
rs2544818234	16:68,373,249	A/G	—	uncertain significance
rs1479285422	16:68,373,255	A/G	—	uncertain significance
rs751566875	16:68,373,262	A/G	—	uncertain significance
rs201452511	16:68,373,296	G/A	—	likely benign
rs768341792	16:68,373,303	A/G	—	uncertain significance
rs138720818	16:68,373,320	C/T	—	benign
rs2085188432	16:68,373,338	A/G	—	likely benign
rs752753983	16:68,373,341	G/A	—	likely benign
rs201449196	16:68,373,350	C/T	—	likely benign
rs768390543	16:68,373,366	G/A	—	uncertain significance
rs772736809	16:68,373,372	A/G	—	uncertain significance
rs12926948	16:68,373,428	T/C	—	benign
rs144242458	16:68,373,429	G/A	—	uncertain significance
rs147342179	16:68,373,452	G/A	—	likely benign
rs774456132	16:68,373,455	G/T	—	likely benign
rs1357567644	16:68,373,462	T/G	—	uncertain significance
rs368929820	16:68,373,484	T/C	—	likely benign
rs183432151	16:68,373,687	T/A	—	likely benign
rs770775042	16:68,373,695	G/A	—	uncertain significance
rs372375423	16:68,373,764	C/T	—	pathogenic
rs200225862	16:68,373,765	G/A	—	likely benign
rs1363309659	16:68,373,782	T/A	—	uncertain significance
rs141861333	16:68,373,784	G/A	—	likely benign
rs2544841251	16:68,373,820	C/A	—	likely benign
rs777409656	16:68,373,823	G/A	—	likely benign
rs1317068382	16:68,373,869	C/G	—	uncertain significance
rs1597361540	16:68,373,871	G/T	—	likely pathogenic
rs3785119	16:68,374,434	G/A	—	—
rs2151820220	16:68,379,558	G/A	—	likely benign
rs368841050	16:68,379,571	G/A	—	likely benign
rs772735898	16:68,379,581	C/T	—	uncertain significance
rs2545019503	16:68,379,587	C/T	—	likely pathogenic
rs376668935	16:68,379,611	C/T	—	likely benign
rs2086255627	16:68,379,617	C/T	—	pathogenic
rs147723326	16:68,379,631	G/A	—	benign
rs1302275373	16:68,379,644	G/A	—	uncertain significance
rs140089674	16:68,379,646	G/A	—	likely benign
rs150218821	16:68,379,661	C/G	—	likely benign
rs1428075269	16:68,379,674	T/A	—	uncertain significance
rs193281700	16:68,379,679	C/T	—	likely benign
rs138848888	16:68,379,680	G/A	—	uncertain significance
rs745890640	16:68,379,709	C/T	—	uncertain significance
rs201182041	16:68,379,722	G/C	—	likely benign
rs201824659	16:68,380,047	G/T	splice region variant	pathogenic
rs75567372	16:68,380,054	A/G	—	benign
rs1244680346	16:68,380,063	G/A	—	likely benign
rs2545042632	16:68,380,065	G/C	—	uncertain significance
rs775110866	16:68,380,070	C/T	—	uncertain significance

Showing 100 of 210 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.