rs113994097
|
|
G |
0.720 |
CausalMutation |
CLINVAR |
Decreased male reproductive success in association with mitochondrial dysfunction.
|
28812649 |
2017 |
rs113994097
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Mitochondrial disorder was clinically suspected and a homozygous c.2243G>C mutation (p.Trp748Ser) was discovered in the POLG1 gene.
|
23248042 |
2012 |
rs113994097
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Modulation of the W748S mutation in DNA polymerase gamma by the E1143G polymorphismin mitochondrial disorders.
|
17088268 |
2006 |
rs1555745989
|
|
G |
0.710 |
CausalMutation |
CLINVAR |
Our data establish c.245C>T (p.Pro82Leu) and c.317T>G (p.Val106Gly) in ATP5F1D as pathogenic variants leading to a Mendelian mitochondrial disease featuring episodic metabolic decompensation.
|
29478781 |
2018 |
rs1555745989
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Our data establish c.245C>T (p.Pro82Leu) and c.317T>G (p.Val106Gly) in ATP5F1D as pathogenic variants leading to a Mendelian mitochondrial disease featuring episodic metabolic decompensation.
|
29478781 |
2018 |
rs113994099
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
Decreased male reproductive success in association with mitochondrial dysfunction.
|
28812649 |
2017 |
rs113994099
|
|
|
0.710 |
GeneticVariation |
BEFREE |
A POLG Y955C point mutation causes human chronic progressive external ophthalmoplegia (CPEO), a mitochondrial disease with eye muscle weakness and mtDNA defects.
|
17310215 |
2007 |
rs1556424691
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Mutation m.15923A>G in the MT-TT gene causes mild myopathy - case report of an adult-onset phenotype.
|
30236074 |
2018 |
rs1556424691
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
CO2-sensitive tRNA modification associated with human mitochondrial disease.
|
29760464 |
2018 |
rs1566433812
|
|
TGCAGAGCA |
0.700 |
CausalMutation |
CLINVAR |
OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect.
|
30201738 |
2018 |
rs200944917
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA.
|
29290614 |
2018 |
rs376902371
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA.
|
29290614 |
2018 |
rs772751581
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect.
|
30201738 |
2018 |
rs111033573
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Decreased male reproductive success in association with mitochondrial dysfunction.
|
28812649 |
2017 |
rs111033577
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Decreased male reproductive success in association with mitochondrial dysfunction.
|
28812649 |
2017 |
rs1131691575
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Decreased male reproductive success in association with mitochondrial dysfunction.
|
28812649 |
2017 |
rs113994095
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Decreased male reproductive success in association with mitochondrial dysfunction.
|
28812649 |
2017 |
rs113994096
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Decreased male reproductive success in association with mitochondrial dysfunction.
|
28812649 |
2017 |
rs121918054
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Decreased male reproductive success in association with mitochondrial dysfunction.
|
28812649 |
2017 |
rs1365700579
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Decreased male reproductive success in association with mitochondrial dysfunction.
|
28812649 |
2017 |
rs1553877864
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Decreased male reproductive success in association with mitochondrial dysfunction.
|
28812649 |
2017 |
rs1554042187
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits.
|
29075935 |
2017 |
rs1554887028
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Decreased male reproductive success in association with mitochondrial dysfunction.
|
28812649 |
2017 |
rs1554887097
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Decreased male reproductive success in association with mitochondrial dysfunction.
|
28812649 |
2017 |
rs1554887213
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Decreased male reproductive success in association with mitochondrial dysfunction.
|
28812649 |
2017 |