TRL-AAG2-3 (tRNA-Leu (anticodon AAG) 2-3)

2017-09-01  

Identity

LOCATION
14q11.2
LOCUSID
ALIAS
TRL-AAG2-1,TRL1,TRNAL1,TRNP1

Other Information

Locus ID:

NCBI: 7207
MIM: 189932
HGNC: 12315

Variants:

dbSNP: 7207
ClinVar: 7207
COSMIC: TRL-AAG2-3

References

Pubmed IDYearTitleCitations
176563762007The A3243G tRNALeu(UUR) mutation induces mitochondrial dysfunction and variable disease expression without dominant negative acting translational defects in complex IV subunits at UUR codons.14
176563762007The A3243G tRNALeu(UUR) mutation induces mitochondrial dysfunction and variable disease expression without dominant negative acting translational defects in complex IV subunits at UUR codons.14

Citation

Dessen P

TRL-AAG2-3 (tRNA-Leu (anticodon AAG) 2-3)

Atlas Genet Cytogenet Oncol Haematol. 2017-09-01

Online version: http://atlasgeneticsoncology.org/gene/80210/trl-aag2-3-(trna-leu-(anticodon-aag)-2-3)