Gene: TRNL1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs193303018
rs193303018
ND1 ; ND2 ; TRNL1
A 0.700 GeneticVariation CLINVAR Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction? 22781753

2012
dbSNP: rs193303018
rs193303018
ND1 ; ND2 ; TRNL1
A 0.700 GeneticVariation CLINVAR Different effects of novel mtDNA G3242A and G3244A base changes adjacent to a common A3243G mutation in patients with mitochondrial disorders. 19460299

2009
dbSNP: rs199474666
rs199474666
ND1 ; ND2 ; TRNL1
G 0.700 CausalMutation CLINVAR Review of the literature on major mental disorders in adult patients with mitochondrial diseases. 16384802

2006
dbSNP: rs193303018
rs193303018
ND1 ; ND2 ; TRNL1
A 0.700 GeneticVariation CLINVAR Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease. 15870203

2005
dbSNP: rs199474657
rs199474657
ND1 ; ND2 ; TRNL1
G 0.700 CausalMutation CLINVAR Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study. 11085913

2001
dbSNP: rs199474666
rs199474666
ND1 ; ND2 ; TRNL1
G 0.700 CausalMutation CLINVAR A mutation in mt tRNALeu(UUR) causing a neuropsychiatric syndrome with depression and cataract. 11723298

2001
dbSNP: rs199474660
rs199474660
ND1 ; ND2 ; TRNL1
T 0.700 CausalMutation CLINVAR Maternally inherited mitochondrial cardiomyopathy associated with a C-to-T transition at nucleotide 3303 of mitochondrial DNA in the tRNA(Leu(UUR)) gene. 9841711

1999
dbSNP: rs199474662
rs199474662
ND1 ; ND2 ; TRNL1
G 0.700 CausalMutation CLINVAR Fatal mitochondrial myopathy, lactic acidosis, and complex I deficiency associated with a heteroplasmic A --> G mutation at position 3251 in the mitochondrial tRNALeu(UUR) gne. 8786060

1996
dbSNP: rs199474659
rs199474659
ND1 ; ND2 ; TRNL1
T 0.700 CausalMutation CLINVAR A mitochondrial tRNA(Leu)(UUR) mutation at 3,256 associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). 7804130

1994
dbSNP: rs199474660
rs199474660
ND1 ; ND2 ; TRNL1
T 0.700 CausalMutation CLINVAR A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with maternally inherited cardiomyopathy. 7906985

1994
dbSNP: rs199474663
rs199474663
ND1 ; ND2 ; TRNL1
G 0.700 CausalMutation CLINVAR Defective respiratory capacity and mitochondrial protein synthesis in transformant cybrids harboring the tRNA(Leu(UUR)) mutation associated with maternally inherited myopathy and cardiomyopathy. 8132749

1994
dbSNP: rs869312463
rs869312463
ND1 ; ND2 ; TRNL1
C 0.700 CausalMutation CLINVAR A new point mutation at nucleotide pair 3291 of the mitochondrial tRNA(Leu(UUR)) gene in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). 7520241

1994
dbSNP: rs199474658
rs199474658
ND1 ; ND2 ; TRNL1
C 0.700 CausalMutation CLINVAR Accumulation of mtDNA with a mutation at position 3271 in tRNA(Leu)(UUR) gene introduced from a MELAS patient to HeLa cells lacking mtDNA results in progressive inhibition of mitochondrial respiratory function. 8280119

1993
dbSNP: rs199474659
rs199474659
ND1 ; ND2 ; TRNL1
T 0.700 CausalMutation CLINVAR Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot? 8254046

1993
dbSNP: rs199474661
rs199474661
ND1 ; ND2 ; TRNL1
G 0.700 GeneticVariation CLINVAR A new point mutation associated with mitochondrial encephalomyopathy. 8111377

1993
dbSNP: rs199474662
rs199474662
ND1 ; ND2 ; TRNL1
G 0.700 CausalMutation CLINVAR Mitochondrial myopathy associated with sudden death in young adults and a novel mutation in the mitochondrial DNA leucine transfer RNA(UUR) gene. 8265770

1993
dbSNP: rs199474663
rs199474663
ND1 ; ND2 ; TRNL1
G 0.700 CausalMutation CLINVAR Mitochondrial DNA transfer RNA mutation Leu(UUR)A-->G 3260: a second family with myopathy and cardiomyopathy. 8210299

1993
dbSNP: rs199474658
rs199474658
ND1 ; ND2 ; TRNL1
C 0.700 CausalMutation CLINVAR A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). 1932147

1991