Variant: rs121918308 

    present in Gene: RRM2B
    present in Chromosome: 8
    Position on Chromosome: 102218918
    Alleles of this Variant: C/G;T

rs121918308 in RRM2B gene and MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) PMID 17486094 2007 Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion.

PMID 18504129 2008 Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene.