Variant: rs137853061

present in Gene: MTRR present in Chromosome: 5 Position on Chromosome: 7892815 Alleles of this Variant: G/A

rs137853061 in MTRR gene and Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type PMID 9501215 1998 Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria.

PMID 10484769 1999 Molecular basis for methionine synthase reductase deficiency in patients belonging to the cblE complementation group of disorders in folatecobalamin metabolism.