Gene entry
MTR
5-methyltetrahydrofolate-homocysteine methyltransferase
- Chromosome
- 1
- Cytoband
- 1q43
- Variants (rsID)
- 47
MTR is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1q43). Its official name is “5-methyltetrahydrofolate-homocysteine methyltransferase”. The reference table lists 47 variants (rsID) for this gene.
Clinically classified variants
21 reference-table entries with clinical significance.
- rs10925263Benignsingle nucleotide variantDisorders of Intracellular Cobalamin Metabolism
- rs113042166Benignsingle nucleotide variantDisorders of Intracellular Cobalamin Metabolism|Methylcobalamin deficiency type cblG
- rs115186224Benignsingle nucleotide variantDisorders of Intracellular Cobalamin Metabolism|Methylcobalamin deficiency type cblG
- rs115424814Benignsingle nucleotide variantDisorders of Intracellular Cobalamin Metabolism|Methylcobalamin deficiency type cblG
- rs117061132Benignsingle nucleotide variantDisorders of Intracellular Cobalamin Metabolism|Methylcobalamin deficiency type cblG
- rs142113735Benignsingle nucleotide variantDisorders of Intracellular Cobalamin Metabolism|Methylcobalamin deficiency type cblG
- rs151081130Benignsingle nucleotide variantDisorders of Intracellular Cobalamin Metabolism|Methylcobalamin deficiency type cblG
- rs1805087Benignsingle nucleotide variantNeural tube defects, folate-sensitive, susceptibility to|Gastrointestinal stromal tumor|Disorders of Intracellular Cobalamin Metabolism|Methylcobalamin deficiency type cblG
- rs2229274Benignsingle nucleotide variantDisorders of Intracellular Cobalamin Metabolism|Methylcobalamin deficiency type cblG
- rs3738547Benignsingle nucleotide variantDisorders of Intracellular Cobalamin Metabolism
- rs41305961Benignsingle nucleotide variantDisorders of Intracellular Cobalamin Metabolism
- rs45563435Benignsingle nucleotide variantDisorders of Intracellular Cobalamin Metabolism
- rs61400757Benignsingle nucleotide variantDisorders of Intracellular Cobalamin Metabolism
- rs116836001Conflicting interpretationssingle nucleotide variantDisorders of Intracellular Cobalamin Metabolism|Methylcobalamin deficiency type cblG
- rs141861479Conflicting interpretationssingle nucleotide variantDisorders of Intracellular Cobalamin Metabolism|Methylcobalamin deficiency type cblG
- rs142648132Conflicting interpretationssingle nucleotide variantDisorders of Intracellular Cobalamin Metabolism|Methylcobalamin deficiency type cblG
- rs145006491Conflicting interpretationssingle nucleotide variantDisorders of Intracellular Cobalamin Metabolism|Methylcobalamin deficiency type cblG
- rs886046217Conflicting interpretationssingle nucleotide variantDisorders of Intracellular Cobalamin Metabolism|Methylcobalamin deficiency type cblG
- rs147859146Likely benignsingle nucleotide variantDisorders of Intracellular Cobalamin Metabolism
- rs121913578Pathogenicsingle nucleotide variantMethylcobalamin deficiency type cblG|Epilepsy|Intellectual disability, profound|Inborn genetic diseases|Disorders of Intracellular Cobalamin Metabolism|Decreased methionine synthase activity|Homocystinuria
- rs142774813Uncertain significancesingle nucleotide variantMethylcobalamin deficiency type cblG|Disorders of Intracellular Cobalamin Metabolism
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.