present in Gene: MRPS22
present in Chromosome: 3
Position on Chromosome: 139348309
Alleles of this Variant: T/G
rs201337850 in
MRPS22 gene and
Movement Disorders
PMID 21189481 2011 Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy.
PMID 28752220 2017 A patient with mitochondrial disorder due to a novel mutation in MRPS22.
PMID 25663021 2015 MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalities.
PMID 27159321 2016 Whole exome sequencing in patients with white matter abnormalities.
PMID 17873122 2007 Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation.
rs201337850 in
MRPS22 gene and
Muscle hypotonia
PMID 21189481 2011 Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy.
PMID 28752220 2017 A patient with mitochondrial disorder due to a novel mutation in MRPS22.
PMID 25663021 2015 MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalities.
PMID 17873122 2007 Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation.
PMID 27159321 2016 Whole exome sequencing in patients with white matter abnormalities.