ETHE1

ETHE1 persulfide dioxygenase

Summary

This gene encodes a member of the metallo beta-lactamase family of iron-containing proteins involved in the mitochondrial sulfide oxidation pathway. The encoded protein catalyzes the oxidation of a persulfide substrate to sulfite. Certain mutations in this gene cause ethylmalonic encephalopathy, an infantile metabolic disorder affecting the brain, gastrointestinal tract and peripheral vessels. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]

Known Variants316 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs930854445	19:44,010,910	T/G	—	uncertain significance
rs201842186	19:44,010,947	C/A	—	benign
rs777509773	19:44,010,954	C/T	—	uncertain significance
rs778362220	19:44,010,971	T/C	—	uncertain significance
rs777230548	19:44,011,005	G/T	—	likely benign
rs1366031091	19:44,011,006	G/A	—	uncertain significance
rs762443593	19:44,011,007	C/T	—	uncertain significance
rs765888263	19:44,011,008	A/G	—	likely benign
rs1971779762	19:44,011,010	T/C	—	uncertain significance
rs1971779868	19:44,011,011	G/A	—	likely benign
rs763187239	19:44,011,020	C/T	—	likely benign
rs1472698495	19:44,011,025	C/T	—	likely pathogenic
rs2513598810	19:44,011,026	A/G	—	likely benign
rs751816050	19:44,011,030	C/T	—	uncertain significance
rs777652898	19:44,011,033	A/C	—	uncertain significance
rs2513598874	19:44,011,035	G/A	—	likely benign
rs753671768	19:44,011,042	G/A	—	uncertain significance
rs757163002	19:44,011,061	G/A	—	likely benign
rs2513598965	19:44,011,062	G/C	—	likely benign
rs2599450	19:44,011,897	C/T	—	benign
rs12985024	19:44,011,915	T/C	—	benign
rs2599451	19:44,011,942	T/C	—	benign
rs2599452	19:44,012,005	G/A	—	benign
rs150923593	19:44,012,008	C/T	—	benign
rs1239779445	19:44,012,042	A/G	—	likely benign
rs1345593407	19:44,012,079	G/T	—	likely benign
rs1298970699	19:44,012,081	T/A	—	likely benign
rs2513603587	19:44,012,083	C/T	—	likely benign
rs2145977099	19:44,012,089	T/G	—	likely benign
rs1568491262	19:44,012,090	G/T	—	uncertain significance
rs1218439131	19:44,012,100	C/A	—	uncertain significance
rs2513603638	19:44,012,102	G/A	—	uncertain significance
rs2513603652	19:44,012,105	G/A	—	likely pathogenic
rs182058313	19:44,012,113	G/A	—	uncertain significance
rs369625358	19:44,012,124	G/A	—	likely benign
rs2513603801	19:44,012,133	G/T	—	likely benign
rs1971828649	19:44,012,145	C/T	—	likely benign
rs1477432797	19:44,012,148	C/T	—	likely benign
rs2145977296	19:44,012,160	G/A	—	likely benign
rs1460643071	19:44,012,163	G/A	—	likely benign
rs2513603905	19:44,012,164	A/C	—	uncertain significance
rs2145977313	19:44,012,166	C/T	—	likely benign
rs2145977334	19:44,012,168	G/T	—	likely benign
rs2513603947	19:44,012,169	A/G	—	likely benign
rs774726187	19:44,012,171	G/A	—	uncertain significance
rs2145977357	19:44,012,175	C/T	—	likely benign
rs745956051	19:44,012,178	A/C	—	likely benign
rs2513604051	19:44,012,184	C/T	—	likely benign
rs2145977394	19:44,012,186	C/A	—	pathogenic
rs775667650	19:44,012,187	C/T	—	likely benign
rs2513604088	19:44,012,190	C/T	—	likely benign
rs373746054	19:44,012,196	G/C	—	likely benign
rs1056355030	19:44,012,199	G/A	—	likely benign
rs267605525	19:44,012,200	G/A	—	conflicting classifications of pathogenicity
rs773009938	19:44,012,203	A/C	—	uncertain significance
rs901230825	19:44,012,211	C/T	—	likely benign
rs1487930609	19:44,012,213	C/T	—	pathogenic
rs863223954	19:44,012,214	T/A	—	pathogenic
rs1971831490	19:44,012,216	G/A	—	likely benign
rs1599982861	19:44,012,218	G/A	—	conflicting classifications of pathogenicity
rs751515256	19:44,012,219	G/A	—	likely benign
rs759099758	19:44,012,220	C/T	—	likely benign
rs1971831724	19:44,012,225	G/A	—	likely benign
rs1368143349	19:44,012,229	G/A	—	likely benign
rs1971831880	19:44,012,230	G/A	—	likely benign
rs2682578	19:44,012,880	A/G	—	benign
rs2145978897	19:44,012,908	T/C	—	likely benign
rs1378664277	19:44,012,909	C/T	—	likely benign
rs2513605657	19:44,012,912	C/T	—	likely benign
rs1418627402	19:44,012,913	C/T	—	likely benign
rs2145978928	19:44,012,917	A/G	—	likely benign
rs2145978939	19:44,012,920	C/A	—	likely benign
rs761661864	19:44,012,925	A/C	—	likely pathogenic
rs2513605707	19:44,012,934	A/G	—	likely benign
rs1008232313	19:44,012,935	T/A	—	conflicting classifications of pathogenicity
rs763799125	19:44,012,936	C/T	—	pathogenic
rs753493085	19:44,012,937	G/A	—	likely benign
rs2513605758	19:44,012,946	G/T	—	pathogenic
rs139119694	19:44,012,949	G/A	—	benign
rs1971846780	19:44,012,952	C/T	—	likely benign
rs2145979096	19:44,012,964	T/C	—	likely benign
rs387906987	19:44,012,968	A/C	missense variant	pathogenic
rs780550549	19:44,012,970	T/G	—	likely benign
rs377420663	19:44,012,971	G/T	—	uncertain significance
rs1236606387	19:44,012,973	G/A	—	likely benign
rs1021259650	19:44,012,978	T/C	—	uncertain significance
rs1448425624	19:44,012,979	C/T	—	likely benign
rs2145979198	19:44,012,982	T/C	—	likely benign
rs2145979212	19:44,012,985	A/G	—	likely benign
rs370182416	19:44,012,987	G/A	—	conflicting classifications of pathogenicity
rs1971848708	19:44,012,988	G/A	—	likely benign
rs1430574021	19:44,012,991	C/T	—	likely benign
rs773972765	19:44,012,992	G/A	—	uncertain significance
rs767337197	19:44,012,994	G/A	—	likely benign
rs745674809	19:44,013,000	C/T	—	likely benign
rs1299509126	19:44,013,009	G/A	—	likely benign
rs2145979349	19:44,013,018	T/C	—	likely pathogenic
rs1971849743	19:44,013,020	G/C	—	likely benign
rs2145979368	19:44,013,022	G/A	—	likely benign
rs199770863	19:44,013,024	A/T	—	likely benign

Showing 100 of 316 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.