rs1555745989 in
ATP5F1D gene and
Mitochondrial Diseases
PMID 29478781 2018 Our data establish c.245C>T (p.Pro82Leu) and c.317T>G (p.Val106Gly) in ATP5F1D as pathogenic variants leading to a Mendelian mitochondrial disease featuring episodic metabolic decompensation.
rs1556424691 in
CYTB;ND6;TRNT gene and
Mitochondrial Diseases
PMID 22638997 2012 New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset.
PMID 8511015 1993 Mitochondrial disorder associated with newborn cardiopulmonary arrest.
PMID 29760464 2018 CO2-sensitive tRNA modification associated with human mitochondrial disease.