Variant: rs121913578

present in Gene: MTR present in Chromosome: 1 Position on Chromosome: 236895470 Alleles of this Variant: C/T

rs121913578 in MTR gene and Methylcobalamin Deficiency, CblG Type PMID 8968737 1996 Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders.

PMID 8968736 1996 Defects in human methionine synthase in cblG patients.