POLRMT

RNA polymerase mitochondrial

Summary

This gene encodes a mitochondrial DNA-directed RNA polymerase. The gene product is responsible for mitochondrial gene expression as well as for providing RNA primers for initiation of replication of the mitochondrial genome. Although this polypeptide has the same function as the three nuclear DNA-directed RNA polymerases, it is more closely related to RNA polymerases of phage and mitochondrial polymerases of lower eukaryotes. [provided by RefSeq, Jul 2008]

Known Variants195 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs769033847	19:617,277	G/A	—	likely benign
rs776436676	19:617,287	T/G	—	uncertain significance
rs376313590	19:617,290	G/A	—	uncertain significance
rs750945052	19:617,296	C/A	—	uncertain significance
rs199982300	19:617,297	G/A	—	likely benign
rs370739693	19:617,301	C/T	—	uncertain significance
rs866570336	19:617,431	C/T	—	uncertain significance
rs151287767	19:617,466	A/G	—	likely benign
rs770526110	19:617,472	T/C	—	uncertain significance
rs142850300	19:617,573	G/A	—	likely benign
rs148585853	19:617,613	G/C	—	uncertain significance
rs199912442	19:617,623	G/A	—	likely benign
rs2512473345	19:617,660	G/A	—	uncertain significance
rs41554212	19:617,769	G/A	—	likely benign
rs1484184124	19:617,812	A/G	—	uncertain significance
rs200224860	19:617,813	G/C	—	conflicting classifications of pathogenicity
rs201558272	19:617,838	G/A	—	uncertain significance
rs990376642	19:618,521	G/C	—	uncertain significance
rs141795579	19:618,547	G/A	—	likely benign
rs779192949	19:618,549	G/A	—	uncertain significance
rs140360484	19:618,550	C/T	—	likely benign
rs200820391	19:618,563	T/C	—	uncertain significance
rs146040672	19:618,583	C/T	—	likely benign
rs115969318	19:618,698	C/A	—	likely benign
rs768325317	19:619,022	G/A	—	uncertain significance
rs370808958	19:619,032	C/T	—	likely benign
rs1600557264	19:619,079	G/C	—	uncertain significance
rs149476145	19:619,099	G/A	—	likely benign
rs559722442	19:619,220	C/T	—	uncertain significance
rs567378965	19:619,221	G/A	—	uncertain significance
rs1804752	19:619,266	C/G	—	uncertain significance
rs973019239	19:619,279	G/A	—	likely benign
rs752978156	19:619,290	C/T	—	uncertain significance
rs764581484	19:619,294	C/A	—	likely benign
rs10853990	19:619,574	T/G	—	benign
rs745348188	19:619,615	G/A	—	pathogenic
rs755635520	19:619,618	T/C	—	uncertain significance
rs1216925925	19:619,645	G/A	—	uncertain significance
rs776986400	19:619,716	T/C	—	uncertain significance
rs1984353088	19:619,734	C/T	—	uncertain significance
rs1447425498	19:619,741	C/T	—	uncertain significance
rs1600560342	19:619,765	C/T	—	uncertain significance
rs11669381	19:619,772	G/C	—	benign
rs151235528	19:620,005	C/T	—	benign
rs55752843	19:620,069	G/T	—	pathogenic
rs751669702	19:620,077	C/G	—	uncertain significance
rs2512492759	19:620,360	C/T	—	uncertain significance
rs569741427	19:620,376	G/C	—	uncertain significance
rs746698090	19:620,405	G/C	—	uncertain significance
rs780855603	19:620,409	C/T	—	likely benign
rs773255080	19:620,422	C/A	—	likely benign
rs796052172	19:620,430	C/T	—	likely benign
rs1407479611	19:620,476	C/A	—	uncertain significance
rs778201827	19:620,488	C/G	—	pathogenic
rs759041307	19:621,068	T/C	—	likely benign
rs764762072	19:621,069	G/C	—	uncertain significance
rs767856533	19:621,074	G/A	—	uncertain significance
rs1321595947	19:621,078	A/T	—	uncertain significance
rs200399941	19:621,079	G/A	—	likely benign
rs139383492	19:621,090	C/T	—	uncertain significance
rs774951851	19:621,133	C/A	—	uncertain significance
rs143192895	19:621,148	C/T	—	likely benign
rs748969595	19:621,187	G/C	—	uncertain significance
rs2512501275	19:621,197	C/T	—	uncertain significance
rs751661059	19:621,207	G/A	—	uncertain significance
rs771445800	19:621,240	C/T	—	uncertain significance
rs561134333	19:621,285	G/A	—	uncertain significance
rs1984566457	19:621,299	A/G	—	uncertain significance
rs760600753	19:621,312	G/C	—	uncertain significance
rs758129182	19:621,336	G/A	—	uncertain significance
rs1984576953	19:621,375	G/T	—	uncertain significance
rs764929279	19:621,379	G/A	—	likely benign
rs990700934	19:621,410	G/A	—	uncertain significance
rs772258615	19:621,414	G/C	—	uncertain significance
rs1181014328	19:621,419	C/T	—	uncertain significance
rs777920611	19:621,420	G/T	—	uncertain significance
rs61743194	19:621,422	C/T	—	uncertain significance
rs762790779	19:621,444	G/T	—	uncertain significance
rs749760358	19:621,467	G/T	—	uncertain significance
rs565088113	19:621,472	G/A	—	likely benign
rs973462953	19:621,489	C/T	—	uncertain significance
rs758721890	19:621,494	G/A	—	uncertain significance
rs562147939	19:621,521	C/T	—	uncertain significance
rs200645726	19:621,567	C/G	—	uncertain significance
rs1186368013	19:621,569	T/C	—	uncertain significance
rs376907483	19:621,603	G/C	—	uncertain significance
rs371118165	19:621,607	G/A	—	likely benign
rs201658953	19:621,618	C/T	—	uncertain significance
rs559530795	19:621,629	G/C	—	conflicting classifications of pathogenicity
rs370751400	19:621,646	C/T	—	likely benign
rs776192083	19:621,657	G/A	—	likely pathogenic
rs762201108	19:621,668	G/C	—	uncertain significance
rs767782097	19:621,669	C/T	—	conflicting classifications of pathogenicity
rs1304580366	19:621,680	G/A	—	uncertain significance
rs1281620980	19:621,696	T/G	—	uncertain significance
rs771832133	19:621,699	G/A	—	uncertain significance
rs142731690	19:621,706	C/G	—	likely benign
rs746830362	19:621,748	G/T	—	uncertain significance
rs748687181	19:621,775	G/C	—	pathogenic
rs370122679	19:621,830	G/A	—	uncertain significance

Showing 100 of 195 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.