TRS-AGA2-3, tRNA-Ser (anticodon AGA) 2-3, 23437

N. diseases: 21; N. variants: 0
Disease: Acidosis, Lactic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.010 GeneticVariation phenotype BEFREE We describe data from a patient with fatal neonatal lactic acidosis caused by a novel homoplasmic mutation at a highly conserved nucleotide G7453A within the tRNA(Ser (UCN)) in mtDNA. 22453297 2012