Gene: TRNV ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199476144
rs199476144
ND1 ; TRNV
T 0.700 GeneticVariation CLINVAR Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease. 25652200

2015
dbSNP: rs199476143
rs199476143
ND1 ; TRNV
A 0.700 CausalMutation CLINVAR Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations. 20064630

2010
dbSNP: rs199476144
rs199476144
ND1 ; TRNV
T 0.700 GeneticVariation CLINVAR Prevalence of mitochondrial DNA disease in adults. 17886296

2008
dbSNP: rs199476144
rs199476144
ND1 ; TRNV
T 0.700 GeneticVariation CLINVAR Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutation. 18400783

2008
dbSNP: rs199476143
rs199476143
ND1 ; TRNV
A 0.700 CausalMutation CLINVAR Complex neurologic syndrome associated with the G1606A mutation of mitochondrial DNA. 12056939

2002
dbSNP: rs199476144
rs199476144
ND1 ; TRNV
T 0.700 GeneticVariation CLINVAR Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation. 11799391

2002
dbSNP: rs199476143
rs199476143
ND1 ; TRNV
A 0.700 CausalMutation CLINVAR A novel mutation in the mitochondrial tRNA(Val) gene associated with a complex neurological presentation. 9450773

1998