Variant: rs1554340243 

    present in Gene: RMND1
    present in Chromosome: 6
    Position on Chromosome: 151405237
    Alleles of this Variant: A/G

rs1554340243 in RMND1 gene and Dysmorphic features PMID 26395190 2016 Hearing impairment and renal failure associated with RMND1 mutations.

PMID 18835491 2008 Neonatal mitochondrial encephaloneuromyopathy due to a defect of mitochondrial protein synthesis.

PMID 25058219 2014 Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

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

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

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

PMID 27412952 2016 The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease.

PMID 25604853 2015 RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement.

rs1554340243 in RMND1 gene and Muscle hypotonia PMID 26395190 2016 Hearing impairment and renal failure associated with RMND1 mutations.

PMID 25058219 2014 Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

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

PMID 25604853 2015 RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement.

PMID 27412952 2016 The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease.

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

PMID 18835491 2008 Neonatal mitochondrial encephaloneuromyopathy due to a defect of mitochondrial protein synthesis.

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