SDHC

succinate dehydrogenase complex subunit C

Summary

This gene encodes one of four nuclear-encoded subunits that comprise succinate dehydrogenase, also known as mitochondrial complex II, a key enzyme complex of the tricarboxylic acid cycle and aerobic respiratory chains of mitochondria. The encoded protein is one of two integral membrane proteins that anchor other subunits of the complex, which form the catalytic core, to the inner mitochondrial membrane. There are several related pseudogenes for this gene on different chromosomes. Mutations in this gene have been associated with paragangliomas. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2013]

Known Variants579 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs4131826	1:161,282,384	T/A	—	—
rs189099484	1:161,283,766	C/T	regulatory region variant	—
rs766876899	1:161,284,163	C/T	—	likely benign
rs115782155	1:161,284,164	T/C	—	benign
rs1248380396	1:161,284,182	G/T	—	uncertain significance
rs758726123	1:161,284,184	C/G	—	uncertain significance
rs1457212522	1:161,284,191	C/A	—	uncertain significance
rs1160334076	1:161,284,192	C/T	—	uncertain significance
rs373136782	1:161,284,193	A/G	—	uncertain significance
rs1468426986	1:161,284,195	G/A	—	conflicting classifications of pathogenicity
rs755235380	1:161,284,196	A/G	missense variant	pathogenic
rs1670517782	1:161,284,197	T/G	—	pathogenic
rs587776652	1:161,284,198	G/A	missense variant	pathogenic
rs1198315342	1:161,284,199	G/A	—	uncertain significance
rs781337432	1:161,284,200	C/G	—	uncertain significance
rs775353334	1:161,284,201	T/C	—	likely benign
rs786205146	1:161,284,201	—	—	pathogenic
rs748243732	1:161,284,202	G/T	—	uncertain significance
rs142139022	1:161,284,203	C/T	—	uncertain significance
rs749265569	1:161,284,204	G/A	—	likely benign
rs770796603	1:161,284,205	C/G	—	uncertain significance
rs774299337	1:161,284,206	T/C	—	uncertain significance
rs745443094	1:161,284,207	G/T	—	likely benign
rs894925936	1:161,284,208	T/A	—	uncertain significance
rs1277411736	1:161,284,209	T/C	—	uncertain significance
rs771746264	1:161,284,210	G/T	—	uncertain significance
rs1325823872	1:161,284,211	C/G	—	uncertain significance
rs1211574644	1:161,284,212	T/C	—	uncertain significance
rs1571828901	1:161,284,213	G/C	—	likely benign
rs1670521233	1:161,284,214	A/C	—	uncertain significance
rs2102271857	1:161,284,215	G/A	—	likely pathogenic
rs1249046874	1:161,284,216	G/T	—	likely pathogenic
rs377566366	1:161,284,218	G/A	—	conflicting classifications of pathogenicity
rs2526274969	1:161,284,219	A/G	—	uncertain significance
rs760206414	1:161,284,220	C/T	—	uncertain significance
rs1013252106	1:161,284,221	T/G	—	uncertain significance
rs1553260599	1:161,284,222	T/G	—	likely benign
rs773661299	1:161,284,223	C/A	—	likely benign
rs1271741954	1:161,284,224	A/C	—	likely benign
rs1060504224	1:161,284,225	G/A	—	likely benign
rs1014189365	1:161,284,227	G/C	—	likely benign
rs2526275253	1:161,284,228	G/A	—	likely benign
rs2102272018	1:161,284,229	G/T	—	likely benign
rs2526275274	1:161,284,230	A/C	—	likely benign
rs2102272025	1:161,284,231	C/A	—	likely benign
rs2102272030	1:161,284,232	T/A	—	likely benign
rs2102272035	1:161,284,233	G/A	—	likely benign
rs763464678	1:161,284,235	G/T	—	likely benign
rs182261879	1:161,284,237	G/C	—	likely benign
rs756177478	1:161,284,257	G/A	—	likely benign
rs11265589	1:161,284,297	T/C	—	benign
rs2102272439	1:161,284,313	C/T	—	uncertain significance
rs60053501	1:161,284,526	C/T	—	benign
rs1670710360	1:161,288,281	C/G	—	conflicting classifications of pathogenicity
rs4255402	1:161,293,193	C/T	—	benign
rs4622080	1:161,293,215	A/G	—	benign
rs4255403	1:161,293,308	C/T	—	benign
rs1450437203	1:161,293,390	C/T	—	likely benign
rs771805280	1:161,293,394	T/C	—	likely benign
rs2102295295	1:161,293,395	A/G	—	likely benign
rs1571843525	1:161,293,396	T/C	—	likely benign
rs2526332235	1:161,293,397	C/T	—	likely benign
rs779721144	1:161,293,398	T/C	—	likely benign
rs2526332254	1:161,293,399	T/G	—	uncertain significance
rs2526332262	1:161,293,400	G/A	—	likely benign
rs1670921815	1:161,293,401	C/G	—	pathogenic
rs1131691062	1:161,293,402	A/G	—	pathogenic
rs2526332292	1:161,293,403	G/A	—	pathogenic
rs746666691	1:161,293,405	C/T	—	uncertain significance
rs776123707	1:161,293,406	A/G	—	uncertain significance
rs761381438	1:161,293,407	C/A	—	uncertain significance
rs774768866	1:161,293,408	G/A	—	uncertain significance
rs1670923061	1:161,293,412	G/C	—	uncertain significance
rs1170595036	1:161,293,413	T/C	—	likely benign
rs759914119	1:161,293,414	C/T	—	uncertain significance
rs767802663	1:161,293,415	G/T	—	uncertain significance
rs1670923808	1:161,293,417	C/G	—	uncertain significance
rs1670923933	1:161,293,418	A/G	—	uncertain significance
rs2526332503	1:161,293,419	T/C	—	likely benign
rs2526332513	1:161,293,420	T/C	—	uncertain significance
rs1558164528	1:161,293,421	G/T	—	uncertain significance
rs760986608	1:161,293,423	C/T	—	uncertain significance
rs1331533952	1:161,293,425	C/T	—	conflicting classifications of pathogenicity
rs201286421	1:161,293,426	C/T	stop gained	pathogenic
rs1294873008	1:161,293,427	G/A	—	uncertain significance
rs1007336839	1:161,293,428	A/T	—	likely benign
rs878994954	1:161,293,429	G/A	—	uncertain significance
rs1558164567	1:161,293,430	C/A	—	uncertain significance
rs1553261765	1:161,293,431	C/G	—	likely benign
rs2102295552	1:161,293,432	C/T	—	uncertain significance
rs1571843720	1:161,293,433	A/T	—	uncertain significance
rs1571843732	1:161,293,434	C/A	—	uncertain significance
rs200761743	1:161,293,437	T/G	—	conflicting classifications of pathogenicity
rs1670926798	1:161,293,438	A/G	—	uncertain significance
rs2526332789	1:161,293,439	G/T	—	uncertain significance
rs757465324	1:161,293,441	C/T	—	uncertain significance
rs2102295625	1:161,293,442	C/G	—	uncertain significance
rs2102295634	1:161,293,443	T/G	—	likely benign
rs1553261768	1:161,293,444	C/T	—	pathogenic
rs1670927465	1:161,293,445	A/T	—	uncertain significance

Showing 100 of 579 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.