|
rs794726857
|
ATP6;ATP8;COX3;ND3;ND4;ND4L
|
MELAS Syndrome
|
A |
0.700 |
CausalMutation |
CLINVAR |
Defective mitochondrial ATPase due to rare mtDNA m.8969G>A mutation-causing lactic acidosis, intellectual disability, and poor growth.
|
29350304 |
2018 |
|
rs794726857
|
ATP6;ATP8;COX3;ND3;ND4;ND4L
|
MELAS Syndrome
|
A |
0.700 |
CausalMutation |
CLINVAR |
Identification of G8969>A in mitochondrial ATP6 gene that severely compromises ATP synthase function in a patient with IgA nephropathy.
|
27812026 |
2016 |
|
rs794726857
|
ATP6;ATP8;COX3;ND3;ND4;ND4L
|
MELAS Syndrome
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene.
|
25037980 |
2014 |
|
rs387906419
|
ATP6;ATP8;COX1;COX2;COX3;TRNS1
|
MELAS Syndrome
|
A |
0.700 |
CausalMutation |
CLINVAR |
Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations.
|
20064630 |
2010 |
|
rs387906419
|
ATP6;ATP8;COX1;COX2;COX3;TRNS1
|
MELAS Syndrome
|
A |
0.700 |
CausalMutation |
CLINVAR |
A new mechanism for mtDNA pathogenesis: impairment of post-transcriptional maturation leads to severe depletion of mitochondrial tRNASer(UCN) caused by T7512C and G7497A point mutations.
|
16199753 |
2005 |
|
rs387906419
|
ATP6;ATP8;COX1;COX2;COX3;TRNS1
|
MELAS Syndrome
|
A |
0.700 |
CausalMutation |
CLINVAR |
Exercise intolerance, muscle pain and lactic acidaemia associated with a 7497G>A mutation in the tRNASer(UCN) gene.
|
14605505 |
2003 |
|
rs199474821
|
ATP6;ATP8;COX1;COX2;COX3;TRNS1
|
MELAS Syndrome
|
C |
0.700 |
CausalMutation |
CLINVAR |
Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene.
|
10371545 |
1999 |
|
rs387906419
|
ATP6;ATP8;COX1;COX2;COX3;TRNS1
|
MELAS Syndrome
|
A |
0.700 |
CausalMutation |
CLINVAR |
Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA(Ser(UCN)) gene.
|
9778262 |
1998 |
|
rs118192100
|
ATP6;ATP8;COX2;COX3;ND3;TRNK
|
MELAS Syndrome
|
A |
0.700 |
CausalMutation |
CLINVAR |
Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNA(Lys) gene (G8363A).
|
8651277 |
1996 |
|
rs111033319
|
ATP6;ATP8;COX1;COX2;COX3;TRNS1
|
MELAS Syndrome
|
AC |
0.700 |
CausalMutation |
CLINVAR |
Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene.
|
7581383 |
1995 |
|
rs199474817
|
ATP6;ATP8;COX1;COX2;COX3;TRNS1
|
MELAS Syndrome
|
C |
0.700 |
CausalMutation |
CLINVAR |
A novel point mutation in the mitochondrial tRNA(Ser(UCN)) gene detected in a family with MERRF/MELAS overlap syndrome.
|
7669057 |
1995 |
|
rs199474818
|
ATP6;ATP8;COX1;COX2;COX3
|
MELAS Syndrome
|
G |
0.700 |
CausalMutation |
CLINVAR |
A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness.
|
8019558 |
1994 |
|
rs118192099
|
ATP6;ATP8;COX2;COX3;ND3;TRNK
|
MELAS Syndrome
|
C |
0.700 |
CausalMutation |
CLINVAR |
A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF).
|
1361099 |
1992 |
|
rs118192098
|
ATP6;ATP8;COX2;COX3;ND3;TRNK
|
MELAS Syndrome
|
G |
0.700 |
CausalMutation |
CLINVAR |
Clinical spectrum of mitochondrial DNA mutation at base pair 8344.
|
1678125 |
1991 |
|
rs199476133
|
ATP6;ATP8;COX3;ND3;ND4;ND4L
|
MELAS Syndrome
|
|
0.010 |
GeneticVariation |
BEFREE |
In order to identify genes whose expression is altered as a result of the presence of mtDNA mutations, DNA microarray analysis was performed using human 143B osteosarcoma cells harboring 3243A>G [tRNA-Leu (UUR)] and 8993T>G [ATPase6 Leu156Arg] mtDNA mutations associated with MELAS and NARP syndromes (2SD and NARP3-1 cybrid cells), respectively.
|
17276738 |
2007 |