Variant: rs397515421 

    present in Gene: RMND1
    present in Chromosome: 6
    Position on Chromosome: 151405787
    Alleles of this Variant: C/T

rs397515421 in RMND1 gene and COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 PMID 25604853 2015 RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement.

PMID 23022098 2012 An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect.

PMID 23022099 2012 Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation.

PMID 26238252 2016 Periventricular Calcification, Abnormal Pterins and Dry Thickened Skin: Expanding the Clinical Spectrum of RMND1?

rs397515421 in RMND1 gene and Mitochondrial Diseases PMID 27412952 2016 The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease.