D2HGDH

D-2-hydroxyglutarate dehydrogenase

Summary

This gene encodes D-2hydroxyglutarate dehydrogenase, a mitochondrial enzyme belonging to the FAD-binding oxidoreductase/transferase type 4 family. This enzyme, which is most active in liver and kidney but also active in heart and brain, converts D-2-hydroxyglutarate to 2-ketoglutarate. Mutations in this gene are present in D-2-hydroxyglutaric aciduria, a rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. [provided by RefSeq, Jul 2008]

Known Variants339 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs886055845	2:242,674,062	C/T	—	uncertain significance
rs557321808	2:242,674,068	C/A	—	uncertain significance
rs886055846	2:242,674,071	C/T	—	uncertain significance
rs1009517781	2:242,674,098	G/A	—	uncertain significance
rs1397577304	2:242,674,101	G/A	—	uncertain significance
rs7370843	2:242,674,104	G/A	—	benign
rs886055847	2:242,674,105	T/G	—	uncertain significance
rs951758262	2:242,674,125	C/T	—	uncertain significance
rs79248835	2:242,674,313	A/C	—	benign
rs80241045	2:242,674,351	C/G	—	benign
rs113276310	2:242,674,352	C/G	—	benign
rs146482048	2:242,674,544	C/G	—	conflicting classifications of pathogenicity
rs62191976	2:242,674,549	C/G	—	benign
rs560355552	2:242,674,557	C/T	—	uncertain significance
rs770031585	2:242,674,595	C/T	—	uncertain significance
rs773503026	2:242,674,603	C/T	—	uncertain significance
rs925382170	2:242,674,645	G/A	—	likely benign
rs544017156	2:242,674,650	G/T	—	uncertain significance
rs1437303780	2:242,674,668	C/T	—	uncertain significance
rs965315670	2:242,674,676	C/T	—	likely benign
rs1360221669	2:242,674,678	G/A	—	likely benign
rs4675887	2:242,674,682	C/G	—	likely benign
rs2124994384	2:242,674,696	A/G	—	likely benign
rs1692452859	2:242,674,710	G/A	—	pathogenic
rs146696295	2:242,674,715	C/T	—	likely benign
rs931898018	2:242,674,718	C/T	—	uncertain significance
rs1575161824	2:242,674,726	C/T	—	likely benign
rs375720367	2:242,674,732	G/T	—	benign
rs1188353884	2:242,674,734	C/T	—	likely benign
rs1037862724	2:242,674,736	C/T	—	uncertain significance
rs762478969	2:242,674,746	G/T	—	uncertain significance
rs1437082537	2:242,674,747	C/G	—	uncertain significance
rs767944127	2:242,674,753	C/T	—	likely benign
rs761137426	2:242,674,765	C/G	—	likely benign
rs766837008	2:242,674,767	C/T	—	uncertain significance
rs527434206	2:242,674,777	G/A	—	likely benign
rs1342397334	2:242,674,795	C/T	—	likely benign
rs77940364	2:242,674,803	G/A	—	uncertain significance
rs2549802019	2:242,674,816	C/T	—	likely benign
rs752903016	2:242,674,827	C/G	—	uncertain significance
rs1336217843	2:242,674,833	A/G	—	uncertain significance
rs751534794	2:242,674,837	C/T	—	likely benign
rs757167384	2:242,674,838	C/G	—	uncertain significance
rs1553599755	2:242,674,841	G/A	—	uncertain significance
rs781063343	2:242,674,843	C/T	—	likely benign
rs771597564	2:242,674,867	C/T	—	likely benign
rs1692496828	2:242,674,868	G/A	—	uncertain significance
rs767449596	2:242,674,896	A/G	—	uncertain significance
rs750320267	2:242,674,902	C/T	—	uncertain significance
rs2549802942	2:242,674,912	C/G	—	uncertain significance
rs797045509	2:242,674,920	G/C	—	uncertain significance
rs1299044212	2:242,674,924	G/C	—	likely benign
rs2549803075	2:242,674,928	C/G	—	uncertain significance
rs1692514824	2:242,674,929	G/A	—	uncertain significance
rs148813816	2:242,674,940	G/A	—	likely benign
rs62191977	2:242,674,959	G/T	—	benign
rs60946542	2:242,680,229	G/A	—	benign
rs4073890	2:242,680,366	A/G	—	benign
rs79423321	2:242,680,375	C/T	—	benign
rs145731647	2:242,680,425	A/G	—	pathogenic
rs4073889	2:242,680,430	A/G	—	benign
rs760624454	2:242,680,474	C/T	—	uncertain significance
rs142977491	2:242,680,475	G/A	—	uncertain significance
rs371102955	2:242,680,479	G/A	—	conflicting classifications of pathogenicity
rs142050154	2:242,680,481	C/G	—	pathogenic
rs374304979	2:242,680,482	G/A	—	conflicting classifications of pathogenicity
rs772305527	2:242,680,523	G/A	—	likely benign
rs1342776670	2:242,681,830	C/G	—	likely benign
rs2549861438	2:242,681,832	C/T	—	likely benign
rs368141783	2:242,681,842	C/T	—	likely benign
rs1694736541	2:242,681,856	C/T	—	likely benign
rs747301663	2:242,681,917	G/A	—	conflicting classifications of pathogenicity
rs142473303	2:242,681,922	C/T	—	conflicting classifications of pathogenicity
rs143231454	2:242,681,923	G/A	—	uncertain significance
rs541023216	2:242,681,931	C/T	—	likely benign
rs121434361	2:242,681,939	T/G	missense variant	pathogenic
rs1282042722	2:242,681,944	T/C	—	uncertain significance
rs1694760766	2:242,681,946	C/T	—	likely benign
rs761620958	2:242,681,950	G/A	—	uncertain significance
rs201926349	2:242,681,953	C/T	—	uncertain significance
rs374397125	2:242,681,954	G/T	—	conflicting classifications of pathogenicity
rs2125068746	2:242,681,955	C/A	—	likely benign
rs763345820	2:242,681,962	C/T	—	uncertain significance
rs2549864803	2:242,681,970	C/T	—	likely benign
rs1472281162	2:242,681,971	A/G	—	uncertain significance
rs2125068910	2:242,681,976	C/T	—	likely benign
rs781581192	2:242,681,982	C/T	—	likely benign
rs372236363	2:242,681,998	G/A	—	likely benign
rs375775579	2:242,682,005	C/T	—	likely benign
rs747902589	2:242,682,007	G/A	—	likely benign
rs771839448	2:242,682,009	C/T	—	benign
rs78147778	2:242,682,029	T/C	—	benign
rs62192002	2:242,682,844	T/C	—	benign
rs369380533	2:242,683,019	C/T	—	benign
rs762382450	2:242,683,055	C/T	—	uncertain significance
rs773735172	2:242,683,061	G/A	—	conflicting classifications of pathogenicity
rs971378866	2:242,683,062	C/T	—	likely benign
rs146408017	2:242,683,063	G/A	—	conflicting classifications of pathogenicity
rs755078950	2:242,683,083	G/A	—	likely benign
rs752626142	2:242,683,086	T/G	—	pathogenic

Showing 100 of 339 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.