Gene entry
MTRR
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
- Chromosome
- 5
- Cytoband
- 5p15.31
- Variants (rsID)
- 39
MTRR is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 5 (region 5p15.31). Its official name is “5-methyltetrahydrofolate-homocysteine methyltransferase reductase”. The reference table lists 39 variants (rsID) for this gene.
Clinically classified variants
20 reference-table entries with clinical significance.
- rs10064631Benignsingle nucleotide variantDisorders of Intracellular Cobalamin Metabolism|Methylcobalamin deficiency type cblE
- rs10380Benignsingle nucleotide variantGastrointestinal stromal tumor|Disorders of Intracellular Cobalamin Metabolism|Methylcobalamin deficiency type cblE
- rs114259126Benignsingle nucleotide variantMethylcobalamin deficiency type cblE|Disorders of Intracellular Cobalamin Metabolism
- rs139206262Benignsingle nucleotide variantDisorders of Intracellular Cobalamin Metabolism|Methylcobalamin deficiency type cblE
- rs144724549Benignsingle nucleotide variantDisorders of Intracellular Cobalamin Metabolism|Methylcobalamin deficiency type cblE
- rs1532268Benignsingle nucleotide variantGastrointestinal stromal tumor|Disorders of Intracellular Cobalamin Metabolism|Methylcobalamin deficiency type cblE
- rs162036Benignsingle nucleotide variantGastrointestinal stromal tumor|Disorders of Intracellular Cobalamin Metabolism|Methylcobalamin deficiency type cblE
- rs1801394Benignsingle nucleotide variantNeural tube defects, folate-sensitive, susceptibility to|Down syndrome, susceptibility to|Gastrointestinal stromal tumor|Disorders of Intracellular Cobalamin Metabolism|Methylcobalamin deficiency type cblE
- rs1802059Benignsingle nucleotide variantDisorders of Intracellular Cobalamin Metabolism|Methylcobalamin deficiency type cblE
- rs2287780Benignsingle nucleotide variantDisorders of Intracellular Cobalamin Metabolism|Methylcobalamin deficiency type cblE
- rs2303080Benignsingle nucleotide variantDisorders of Intracellular Cobalamin Metabolism|Methylcobalamin deficiency type cblE
- rs41282641Benignsingle nucleotide variantDisorders of Intracellular Cobalamin Metabolism|Methylcobalamin deficiency type cblE
- rs41283145Benignsingle nucleotide variantMethylcobalamin deficiency type cblE|Disorders of Intracellular Cobalamin Metabolism
- rs6874544Benignsingle nucleotide variantDisorders of Intracellular Cobalamin Metabolism|Methylcobalamin deficiency type cblE
- rs142714881Conflicting interpretationssingle nucleotide variantMethylcobalamin deficiency type cblE
- rs148909799Conflicting interpretationssingle nucleotide variantDisorders of Intracellular Cobalamin Metabolism|Methylcobalamin deficiency type cblE
- rs149037732Conflicting interpretationssingle nucleotide variantDisorders of Intracellular Cobalamin Metabolism|Methylcobalamin deficiency type cblE
- rs137853061Pathogenicsingle nucleotide variantMethylcobalamin deficiency type cblE|Inborn genetic diseases
- rs137853062Pathogenicsingle nucleotide variantMethylcobalamin deficiency type cblE
- rs893229476Pathogenicsingle nucleotide variantMethylcobalamin deficiency type cblE
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.