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.6

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