DMGDH

dimethylglycine dehydrogenase

Summary

This gene encodes an enzyme involved in the catabolism of choline, catalyzing the oxidative demethylation of dimethylglycine to form sarcosine. The enzyme is found as a monomer in the mitochondrial matrix, and uses flavin adenine dinucleotide and folate as cofactors. Mutation in this gene causes dimethylglycine dehydrogenase deficiency, characterized by a fishlike body odor, chronic muscle fatigue, and elevated levels of the muscle form of creatine kinase in serum. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

Known Variants133 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs191010489	5:78,293,897	G/A	—	uncertain significance
rs202241708	5:78,293,940	G/A	—	uncertain significance
rs758211845	5:78,293,961	A/G	—	likely benign
rs877052	5:78,293,971	T/C	—	benign
rs201147856	5:78,294,042	G/A	—	likely benign
rs762005988	5:78,294,056	T/A	—	uncertain significance
rs200356715	5:78,301,084	C/G	—	likely benign
rs369624925	5:78,301,085	T/G	—	likely benign
rs141588572	5:78,301,130	G/A	—	uncertain significance
rs41272262	5:78,301,172	C/T	—	likely benign
rs75051122	5:78,301,220	A/G	—	benign
rs74833544	5:78,301,254	A/G	—	benign
rs41272264	5:78,301,326	A/G	—	benign
rs41272266	5:78,301,363	T/A	—	benign
rs11951068	5:78,304,314	G/T	—	—
rs6881725	5:78,310,754	T/C	intron variant	—
rs6859544	5:78,310,877	G/C	intron variant	—
rs6877621	5:78,314,379	G/A	intron variant	—
rs921943	5:78,316,476	C/T	intron variant	—
rs6877698	5:78,319,710	C/G	intron variant	—
rs77754711	5:78,319,959	A/G	—	likely benign
rs2303128	5:78,320,085	T/C	—	benign
rs2530725133	5:78,320,131	A/C	—	uncertain significance
rs193210109	5:78,320,148	G/A	—	likely benign
rs2431332	5:78,321,109	A/G	regulatory region variant	—
rs113405129	5:78,322,282	G/A	—	uncertain significance
rs745629468	5:78,322,315	C/T	—	uncertain significance
rs752787112	5:78,322,362	A/G	—	likely benign
rs148572384	5:78,322,421	G/A	—	likely benign
rs3797537	5:78,322,650	A/G	intron variant	—
rs933683	5:78,324,003	G/A	—	—
rs1805074	5:78,324,352	A/G	—	benign
rs138871430	5:78,324,361	T/C	—	uncertain significance
rs751531616	5:78,324,370	C/G	—	uncertain significance
rs144860859	5:78,324,399	A/G	—	uncertain significance
rs1480719645	5:78,324,459	T/G	—	uncertain significance
rs371778992	5:78,324,462	T/A	—	uncertain significance
rs367920866	5:78,324,477	C/T	—	likely benign
rs371689941	5:78,324,478	G/A	—	likely benign
rs2303129	5:78,324,482	T/C	—	benign
rs1580198732	5:78,324,486	C/A	—	likely benign
rs200459665	5:78,325,717	G/A	—	likely benign
rs1754108864	5:78,325,757	G/C	—	uncertain significance
rs762091133	5:78,325,758	T/A	—	uncertain significance
rs760774513	5:78,325,762	T/C	—	likely benign
rs139749124	5:78,325,764	A/G	—	likely benign
rs1454914572	5:78,325,814	C/T	—	uncertain significance
rs780406415	5:78,325,815	G/C	—	uncertain significance
rs560813383	5:78,325,864	A/G	—	likely benign
rs41272268	5:78,325,879	T/C	—	likely benign
rs150028193	5:78,326,586	A/G	regulatory region variant	—
rs141558713	5:78,326,663	A/C	—	uncertain significance
rs1754151414	5:78,326,738	A/G	—	uncertain significance
rs1805073	5:78,326,750	G/C	—	benign
rs142541710	5:78,326,806	G/A	—	likely benign
rs150984434	5:78,326,808	G/A	—	uncertain significance
rs72764929	5:78,326,825	A/T	—	likely benign
rs116060294	5:78,326,837	T/G	—	benign
rs762477431	5:78,328,548	C/T	—	likely benign
rs1805072	5:78,328,560	G/A	—	benign
rs192307313	5:78,328,598	T/G	—	likely benign
rs371277894	5:78,328,625	T/C	—	uncertain significance
rs534488827	5:78,328,626	C/T	—	likely benign
rs768086517	5:78,328,643	G/A	—	uncertain significance
rs75001541	5:78,328,682	T/C	—	likely benign
rs1554035707	5:78,329,054	T/C	—	likely benign
rs1554035710	5:78,329,056	C/T	—	likely benign
rs571102193	5:78,329,064	A/G	—	uncertain significance
rs548082594	5:78,329,100	T/A	—	uncertain significance
rs1754244553	5:78,329,101	C/T	—	uncertain significance
rs771662858	5:78,329,133	C/T	—	uncertain significance
rs778394636	5:78,329,134	G/A	—	uncertain significance
rs2431951	5:78,330,630	C/T	intron variant	—
rs532060835	5:78,332,506	A/G	—	—
rs74603482	5:78,336,283	A/G	intron variant	—
rs148324645	5:78,338,119	C/A	—	uncertain significance
rs759222513	5:78,338,142	T/C	—	uncertain significance
rs564751250	5:78,338,167	T/C	—	uncertain significance
rs77116243	5:78,338,202	T/C	—	benign
rs143021634	5:78,338,269	G/C	—	uncertain significance
rs248384	5:78,340,062	T/C	—	benign
rs139044238	5:78,340,149	C/T	—	conflicting classifications of pathogenicity
rs779309480	5:78,340,167	C/T	—	uncertain significance
rs1479487089	5:78,340,190	G/A	—	uncertain significance
rs747089244	5:78,340,219	C/T	—	uncertain significance
rs145258663	5:78,340,223	G/A	—	likely benign
rs142181836	5:78,340,228	T/G	—	likely benign
rs248385	5:78,340,257	C/G	—	benign
rs765873369	5:78,340,264	C/T	—	uncertain significance
rs200216040	5:78,340,265	G/A	—	uncertain significance
rs532964	5:78,340,286	A/G	missense variant	benign
rs575410476	5:78,340,321	G/A	—	uncertain significance
rs111803146	5:78,340,386	A/G	—	likely benign
rs531982	5:78,340,411	T/C	—	benign
rs2249096	5:78,340,517	A/T	—	benign
rs17823642	5:78,341,297	C/T	intron variant	—
rs17823774	5:78,345,163	C/A	—	—
rs16876394	5:78,346,769	T/C	intron variant	—
rs144264803	5:78,346,899	T/A	intron variant	—
rs139396226	5:78,347,161	C/A	—	uncertain significance

Showing 100 of 133 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.