POLR1C

RNA polymerase I and III subunit C

Summary

The protein encoded by this gene is a subunit of both RNA polymerase I and RNA polymerase III complexes. The encoded protein is part of the Pol core element. Mutations in this gene have been associated with Treacher Collins syndrome (TCS) and hypomyelinating leukodystrophy 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

Known Variants306 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2231763	6:43,484,532	G/A	—	likely benign
rs2231762	6:43,484,594	A/G	—	likely benign
rs2231761	6:43,484,616	C/T	—	likely benign
rs2231759	6:43,484,643	G/A	—	benign
rs886061424	6:43,484,785	C/A	—	uncertain significance
rs190872536	6:43,484,827	A/G	—	uncertain significance
rs2231757	6:43,484,833	G/A	—	likely benign
rs142683244	6:43,484,840	G/A	—	uncertain significance
rs2231756	6:43,484,844	G/A	—	conflicting classifications of pathogenicity
rs138184356	6:43,484,855	C/T	—	likely benign
rs752713208	6:43,484,856	T/C	—	likely benign
rs569005988	6:43,484,870	A/G	—	likely benign
rs772728540	6:43,484,879	G/A	—	uncertain significance
rs200115914	6:43,484,881	A/G	—	conflicting classifications of pathogenicity
rs560415561	6:43,484,883	C/T	—	likely benign
rs201754745	6:43,484,884	C/T	—	uncertain significance
rs759764469	6:43,484,886	C/T	—	likely benign
rs149529196	6:43,484,912	G/A	—	uncertain significance
rs745593101	6:43,484,915	A/G	—	uncertain significance
rs1582177745	6:43,484,917	G/A	—	pathogenic
rs376407272	6:43,484,921	G/A	—	uncertain significance
rs2482868154	6:43,484,931	C/T	—	likely benign
rs779963633	6:43,485,032	C/T	—	likely benign
rs886061425	6:43,485,037	G/C	—	uncertain significance
rs201441256	6:43,485,038	C/T	—	likely benign
rs886041661	6:43,485,043	G/A	—	pathogenic
rs948560181	6:43,485,044	G/A	—	uncertain significance
rs796052126	6:43,485,051	C/T	missense variant	pathogenic
rs144054843	6:43,485,053	A/G	—	conflicting classifications of pathogenicity
rs1057519455	6:43,485,062	C/G	missense variant	uncertain significance
rs888334484	6:43,485,064	C/T	—	likely benign
rs775819198	6:43,485,065	G/A	—	uncertain significance
rs796052124	6:43,485,069	A/T	missense variant	pathogenic
rs562499631	6:43,485,072	A/G	—	uncertain significance
rs1004141332	6:43,485,084	A/G	—	uncertain significance
rs1232254622	6:43,485,089	G/A	—	uncertain significance
rs148236144	6:43,485,090	C/T	—	uncertain significance
rs886061426	6:43,485,112	G/A	—	uncertain significance
rs2227301	6:43,485,283	T/C	—	benign
rs779331072	6:43,487,058	C/T	—	likely benign
rs749699177	6:43,487,077	C/T	—	uncertain significance
rs368486399	6:43,487,078	G/T	—	uncertain significance
rs919437421	6:43,487,093	A/G	—	uncertain significance
rs769025465	6:43,487,095	A/G	—	uncertain significance
rs1464384835	6:43,487,106	C/A	—	uncertain significance
rs1419929714	6:43,487,108	C/T	—	uncertain significance
rs751093408	6:43,487,109	A/G	—	likely benign
rs141471029	6:43,487,122	A/G	—	conflicting classifications of pathogenicity
rs1793019828	6:43,487,132	T/C	—	uncertain significance
rs766981483	6:43,487,133	T/C	—	likely benign
rs1793020065	6:43,487,134	G/T	—	conflicting classifications of pathogenicity
rs2127689139	6:43,487,142	C/T	—	likely benign
rs748474595	6:43,487,148	C/G	—	likely benign
rs371802902	6:43,487,150	A/G	missense variant	pathogenic
rs886061427	6:43,487,158	C/T	—	pathogenic
rs1793021342	6:43,487,161	C/T	—	pathogenic
rs2482881631	6:43,487,181	A/G	—	uncertain significance
rs9472069	6:43,487,363	A/C	—	benign
rs1288522943	6:43,487,435	C/T	—	likely benign
rs745921564	6:43,487,446	G/A	—	likely benign
rs1305006253	6:43,487,475	T/C	—	pathogenic
rs780090128	6:43,487,481	A/G	—	uncertain significance
rs1174079439	6:43,487,487	C/T	—	uncertain significance
rs770637715	6:43,487,507	A/T	—	pathogenic
rs1015942660	6:43,487,516	C/T	—	conflicting classifications of pathogenicity
rs1255115751	6:43,487,519	C/T	—	pathogenic
rs796052127	6:43,487,520	G/A	missense variant	pathogenic
rs1793042727	6:43,487,529	T/C	—	uncertain significance
rs1582181247	6:43,487,543	G/C	—	pathogenic
rs146332364	6:43,487,552	C/T	—	uncertain significance
rs1554131502	6:43,487,558	T/A	—	likely pathogenic
rs1793045102	6:43,487,568	G/A	—	uncertain significance
rs143381942	6:43,487,767	G/A	—	likely benign
rs765044240	6:43,487,784	A/C	—	likely benign
rs1793059740	6:43,487,808	T/C	—	likely benign
rs201320592	6:43,487,816	G/A	—	conflicting classifications of pathogenicity
rs1475285462	6:43,487,821	G/T	—	pathogenic
rs148385032	6:43,487,842	C/T	—	conflicting classifications of pathogenicity
rs796052125	6:43,487,857	T/C	missense variant	pathogenic
rs144195949	6:43,487,864	G/A	—	uncertain significance
rs146162408	6:43,487,873	A/T	—	uncertain significance
rs2482887300	6:43,487,877	T/C	—	likely benign
rs750595496	6:43,487,891	C/G	—	uncertain significance
rs776311990	6:43,487,896	C/G	—	uncertain significance
rs745325916	6:43,487,901	C/T	—	conflicting classifications of pathogenicity
rs769410222	6:43,487,902	G/A	—	uncertain significance
rs187997427	6:43,487,910	C/T	—	conflicting classifications of pathogenicity
rs200525225	6:43,487,911	G/A	—	uncertain significance
rs773388338	6:43,487,923	G/A	—	pathogenic
rs755099052	6:43,487,940	T/C	—	likely benign
rs548176283	6:43,487,998	A/C	—	likely benign
rs567744785	6:43,488,006	C/T	—	likely benign
rs771262971	6:43,488,016	A/G	—	uncertain significance
rs140188270	6:43,488,020	C/G	—	likely benign
rs765315766	6:43,488,032	A/G	—	likely benign
rs1202078132	6:43,488,044	G/C	—	conflicting classifications of pathogenicity
rs762980148	6:43,488,046	G/A	—	uncertain significance
rs763888907	6:43,488,056	T/C	—	likely benign
rs1793082089	6:43,488,059	T/G	—	uncertain significance
rs149840242	6:43,488,060	C/G	—	conflicting classifications of pathogenicity

Showing 100 of 306 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.