SARDH

sarcosine dehydrogenase

Summary

This gene encodes an enzyme localized to the mitochondrial matrix which catalyzes the oxidative demethylation of sarcosine. This enzyme is distinct from another mitochondrial matrix enzyme, dimethylglycine dehydrogenase, which catalyzes a reaction resulting in the formation of sarcosine. Mutations in this gene are associated with sarcosinemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Oct 2008]

Known Variants132 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs34770100	9:136,525,362	C/T	downstream gene variant	—
rs1217651279	9:136,529,036	T/C	—	uncertain significance
rs757458797	9:136,529,054	G/A	—	uncertain significance
rs563709194	9:136,529,132	G/A	—	uncertain significance
rs528728773	9:136,530,407	C/T	—	—
rs530622292	9:136,530,828	G/T	—	—
rs772972360	9:136,531,861	C/T	—	uncertain significance
rs371002234	9:136,531,876	T/C	—	likely benign
rs572976768	9:136,531,887	G/A	—	likely benign
rs143963702	9:136,531,890	G/A	—	likely benign
rs778141547	9:136,531,892	C/T	—	uncertain significance
rs369369714	9:136,531,904	C/T	—	likely benign
rs372772543	9:136,531,905	G/C	—	uncertain significance
rs146458678	9:136,531,953	G/A	—	likely benign
rs183423716	9:136,532,192	G/T	intron variant	—
rs779654915	9:136,535,733	C/T	—	uncertain significance
rs368340490	9:136,535,734	G/A	—	uncertain significance
rs768116522	9:136,535,737	G/A	—	uncertain significance
rs61685718	9:136,535,746	C/T	—	benign
rs760936213	9:136,535,752	G/A	—	uncertain significance
rs776950707	9:136,535,757	T/C	—	uncertain significance
rs147854817	9:136,535,855	C/T	—	benign
rs141409671	9:136,535,856	G/A	—	likely benign
rs770328291	9:136,535,869	G/A	—	uncertain significance
rs129932	9:136,536,679	G/A	—	benign
rs201044298	9:136,536,686	C/T	—	uncertain significance
rs754356515	9:136,536,723	C/T	—	uncertain significance
rs376698046	9:136,536,750	C/G	—	likely benign
rs143904989	9:136,536,757	C/T	—	likely benign
rs202007669	9:136,536,758	G/A	—	uncertain significance
rs2519123	9:136,536,793	C/G	—	benign
rs758817966	9:136,536,801	A/G	—	uncertain significance
rs149391396	9:136,536,816	G/A	stop gained	affects
rs188627836	9:136,541,504	G/A	intron variant	—
rs185637226	9:136,543,200	C/T	intron variant	—
rs577240635	9:136,545,541	C/T	—	—
rs146274167	9:136,547,656	C/A	intron variant	—
rs541876276	9:136,549,908	C/T	—	—
rs748136846	9:136,550,329	C/T	—	uncertain significance
rs1204797824	9:136,550,344	G/T	—	uncertain significance
rs10993765	9:136,555,387	G/A	regulatory region variant	—
rs571389818	9:136,555,437	C/T	—	—
rs867823463	9:136,555,506	C/T	—	uncertain significance
rs748781646	9:136,555,522	G/A	—	likely benign
rs750212878	9:136,555,584	C/T	—	uncertain significance
rs886016	9:136,555,629	T/C	—	benign
rs141021280	9:136,557,959	C/T	intron variant	—
rs762590871	9:136,559,389	C/T	—	uncertain significance
rs1052342276	9:136,559,449	C/T	—	uncertain significance
rs2073817	9:136,559,460	C/T	—	benign
rs1831209594	9:136,559,479	T/C	—	uncertain significance
rs141529500	9:136,560,054	G/A	intron variant	—
rs2502740	9:136,561,367	A/G	—	benign
rs147664972	9:136,561,426	A/G	—	uncertain significance
rs773721888	9:136,561,435	T/C	—	uncertain significance
rs766700582	9:136,561,447	C/T	—	uncertain significance
rs35013479	9:136,561,448	G/A	—	benign
rs200850275	9:136,561,450	C/T	—	uncertain significance
rs183942091	9:136,567,009	T/C	intron variant	—
rs1192479180	9:136,568,097	C/G	—	uncertain significance
rs761758590	9:136,568,106	C/T	—	uncertain significance
rs772412275	9:136,570,078	G/A	—	uncertain significance
rs140559739	9:136,570,084	G/A	stop gained	affects
rs1277835218	9:136,570,104	C/G	—	uncertain significance
rs775247125	9:136,570,119	C/T	—	uncertain significance
rs138985974	9:136,570,161	G/A	—	benign
rs542392181	9:136,570,764	C/A	—	—
rs61745310	9:136,573,411	C/T	—	benign
rs2073815	9:136,573,412	A/G	—	benign
rs114841400	9:136,573,421	G/A	—	benign
rs35699831	9:136,573,437	C/T	—	uncertain significance
rs77400867	9:136,573,460	G/A	—	benign
rs1485976202	9:136,573,503	C/T	—	uncertain significance
rs756285960	9:136,573,548	C/T	—	uncertain significance
rs112348999	9:136,573,556	G/A	—	likely benign
rs147188337	9:136,577,770	C/T	—	likely benign
rs140650551	9:136,577,771	G/A	—	uncertain significance
rs144513093	9:136,577,774	C/T	—	uncertain significance
rs751158777	9:136,582,454	C/T	—	uncertain significance
rs541629904	9:136,582,461	C/T	—	likely benign
rs2538593592	9:136,582,465	G/A	—	uncertain significance
rs35664470	9:136,584,082	G/A	—	benign
rs34100523	9:136,584,132	A/G	—	benign
rs1236572946	9:136,584,134	A/C	—	uncertain significance
rs2538602906	9:136,584,161	T/C	—	uncertain significance
rs7040170	9:136,586,367	A/G	intron variant	—
rs117006139	9:136,590,666	C/T	—	likely benign
rs759296197	9:136,594,903	C/T	—	uncertain significance
rs764894855	9:136,594,904	G/A	—	uncertain significance
rs141160856	9:136,594,905	C/G	—	uncertain significance
rs137999690	9:136,594,913	C/T	—	uncertain significance
rs371310169	9:136,594,914	G/A	—	likely benign
rs149481147	9:136,594,942	G/A	missense variant	affects
rs776453448	9:136,594,943	G/C	—	uncertain significance
rs140509709	9:136,594,963	C/T	—	likely benign
rs780553272	9:136,594,992	G/A	—	likely benign
rs1185508676	9:136,595,179	C/T	—	likely benign
rs147435491	9:136,595,221	C/T	—	uncertain significance
rs35457000	9:136,595,253	C/T	—	benign
rs765710837	9:136,595,259	A/G	—	likely benign

Showing 100 of 132 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.