MTR

5-methyltetrahydrofolate-homocysteine methyltransferase

Summary

This gene encodes the 5-methyltetrahydrofolate-homocysteine methyltransferase. This enzyme, also known as cobalamin-dependent methionine synthase, catalyzes the final step in methionine biosynthesis. Mutations in MTR have been identified as the underlying cause of methylcobalamin deficiency complementation group G. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]

Known Variants1,111 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs28372868	1:236,958,383	A/C	—	benign
rs28372869	1:236,958,478	T/A	—	benign
rs28372870	1:236,958,515	C/T	—	benign
rs28372871	1:236,958,532	G/T	—	benign
rs556504622	1:236,958,591	C/A	—	uncertain significance
rs774502590	1:236,958,625	C/T	—	uncertain significance
rs1382434014	1:236,958,648	C/G	—	uncertain significance
rs575057926	1:236,958,660	C/T	—	uncertain significance
rs1057264345	1:236,958,676	T/G	—	uncertain significance
rs187186973	1:236,958,683	C/G	—	likely benign
rs560526191	1:236,958,695	G/A	—	uncertain significance
rs886046214	1:236,958,755	C/T	—	uncertain significance
rs111840642	1:236,958,803	C/G	—	likely benign
rs886046215	1:236,958,806	C/G	—	uncertain significance
rs3738548	1:236,958,831	G/A	—	uncertain significance
rs41305572	1:236,958,853	C/T	—	likely benign
rs886046216	1:236,958,871	G/A	—	uncertain significance
rs113809927	1:236,958,893	C/T	—	likely benign
rs750631109	1:236,958,896	G/C	—	uncertain significance
rs762741049	1:236,958,908	C/A	—	uncertain significance
rs3738547	1:236,958,937	C/T	—	benign
rs183719210	1:236,958,998	G/C	—	uncertain significance
rs2527736406	1:236,959,009	A/G	—	likely benign
rs201975748	1:236,959,012	C/T	—	likely benign
rs139083778	1:236,959,016	C/A	—	uncertain significance
rs749717645	1:236,959,021	A/G	—	likely benign
rs1660337286	1:236,959,033	A/G	—	likely benign
rs552329149	1:236,959,036	C/T	—	uncertain significance
rs776165231	1:236,959,039	T/C	—	likely pathogenic
rs2527736944	1:236,959,046	G/A	—	likely benign
rs376679817	1:236,959,047	C/T	—	conflicting classifications of pathogenicity
rs1451478728	1:236,959,048	G/C	—	likely benign
rs370004550	1:236,959,050	C/A	—	conflicting classifications of pathogenicity
rs369825451	1:236,959,051	C/T	—	likely benign
rs751883876	1:236,959,052	C/T	—	likely benign
rs2527737104	1:236,959,053	C/A	—	likely benign
rs1660339946	1:236,959,056	C/T	—	likely benign
rs10399834	1:236,959,082	C/T	—	benign
rs111492584	1:236,959,176	C/T	—	likely benign
rs12354209	1:236,959,252	A/G	—	benign
rs768230559	1:236,966,708	A/G	—	uncertain significance
rs372886393	1:236,966,709	A/G	—	likely benign
rs1236967841	1:236,966,716	C/T	—	likely benign
rs376681897	1:236,966,748	C/T	—	uncertain significance
rs767724201	1:236,966,749	G/A	—	likely benign
rs2527810034	1:236,966,756	G/C	—	uncertain significance
rs760845484	1:236,966,761	A/G	—	uncertain significance
rs1039659576	1:236,966,773	A/G	—	uncertain significance
rs1660804334	1:236,966,792	G/A	—	likely benign
rs1057523951	1:236,966,801	G/A	—	likely benign
rs1660805626	1:236,966,811	A/G	—	uncertain significance
rs902094400	1:236,966,819	G/A	—	likely benign
rs757720946	1:236,966,820	C/T	—	uncertain significance
rs143088011	1:236,966,821	G/A	—	uncertain significance
rs138229278	1:236,966,822	G/T	—	likely benign
rs747724978	1:236,966,828	G/A	—	likely benign
rs1456942328	1:236,966,829	C/T	—	likely benign
rs144151735	1:236,966,834	C/T	—	likely benign
rs767201867	1:236,966,847	C/T	—	pathogenic
rs12749581	1:236,966,848	G/A	missense variant	likely benign
rs2527811220	1:236,966,856	G/C	—	uncertain significance
rs2103013970	1:236,966,867	T/C	—	likely benign
rs771729715	1:236,966,870	T/C	—	likely benign
rs775827591	1:236,966,872	C/G	—	uncertain significance
rs886046217	1:236,966,874	A/C	—	conflicting classifications of pathogenicity
rs753847712	1:236,966,879	G/A	—	likely benign
rs2527811513	1:236,966,885	A/G	—	likely benign
rs1463533327	1:236,966,887	G/A	—	uncertain significance
rs200338330	1:236,966,906	T/C	—	likely benign
rs2103014160	1:236,966,918	T/G	—	likely benign
rs1660813301	1:236,966,930	C/T	—	likely benign
rs1327197902	1:236,966,933	A/G	—	likely benign
rs752416578	1:236,966,953	C/T	—	likely benign
rs2527812081	1:236,966,957	G/T	—	likely benign
rs2527812142	1:236,966,961	C/G	—	likely benign
rs2527812158	1:236,966,962	C/G	—	likely benign
rs16834402	1:236,967,186	A/T	—	benign
rs2527832382	1:236,969,429	A/C	—	likely benign
rs543159675	1:236,969,432	C/G	—	likely benign
rs2527832417	1:236,969,434	C/G	—	likely benign
rs184332230	1:236,969,437	G/A	—	likely benign
rs145939391	1:236,969,443	G/C	—	likely pathogenic
rs2527832676	1:236,969,449	C/T	—	likely benign
rs751808381	1:236,969,453	C/T	—	likely benign
rs1264676428	1:236,969,464	A/G	—	likely benign
rs956616795	1:236,969,465	G/C	—	uncertain significance
rs946519296	1:236,969,488	T/C	—	likely benign
rs2527833257	1:236,969,490	G/A	—	uncertain significance
rs2527833447	1:236,969,507	C/T	—	pathogenic
rs746836137	1:236,969,519	G/A	—	uncertain significance
rs984844630	1:236,969,521	C/T	—	likely benign
rs199843808	1:236,969,552	C/T	—	likely benign
rs1661117141	1:236,971,838	A/G	—	pathogenic
rs113277607	1:236,971,983	C/T	—	benign
rs774766963	1:236,971,984	G/A	—	likely benign
rs7526063	1:236,971,998	C/T	—	benign
rs772591750	1:236,972,001	T/C	—	uncertain significance
rs1414249194	1:236,972,011	G/A	—	uncertain significance
rs143180799	1:236,972,013	A/C	—	uncertain significance
rs538707626	1:236,972,019	A/G	—	uncertain significance

Showing 100 of 1,111 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.