|
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 |
|
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 |
|
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 |
|
rs2853493
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs2853499
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs755933881
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs143319805
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The paper described a 12yo female with multisystem mitochondrial disorder (MID) due to the compound heterozygous variants c.1963_1964dupAT and p.Ile382Met in OPA1 manifesting phenotypically with congenital nystagmus, developmental delay, visual impairment, gait ataxia, epilepsy, a stroke-like episode (SLE) with encephalopathy and vomiting, and hearing impairment.
|
31782039 |
2020 |
|
rs143319805
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Using a targeted resequencing of 132 genes associated with mitochondrial disorders, in two probands we found compound heterozygous mutations in OPA1: in the first a 5 nucleotide deletion, causing a frameshift and insertion of a premature stop codon (p.Ser64Asnfs*7), and a missense change (p.Ile437Met), which has recently been reported to have clinical impact; in the second, a novel missense change (p.Val988Phe) co-occurred with the p.Ile437Met substitution.
|
28494813 |
2017 |
|
rs2307441
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We identified a mitochondrial disease causing missense variation in polymerase domain of POLG1 protein at amino acid 1143 (E1143G) to be 25 times more prevalent in European-Americans (allele frequency 0.03777) when compared to African-American (allele frequency 0.00151) population.
|
26468652 |
2015 |
|
rs2307441
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Modulation of the W748S mutation in DNA polymerase gamma by the E1143G polymorphismin mitochondrial disorders.
|
17088268 |
2006 |
|
rs1003624852
|
|
|
0.010 |
GeneticVariation |
BEFREE |
G167P suggests possible molecular effects of S151P (corresponding in sequence to G167P) identified as a mitochondrial disease-related mutation in human cytochrome b.
|
26245902 |
2015 |
|
rs121908572
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Because of multisystem involvement, mitochondrial disease was suspected and the mutational analysis of the BCS1L gene revealed homozygous P99L mutation.
|
23892085 |
2013 |
|
rs121918046
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Subsequent Sanger sequencing of POLG in a further 275 unrelated probands with genetically unconfirmed mitochondrial disease revealed a third unrelated proband with a similar phenotype harboring homozygous c.1879C>T; p.R627W mutations and a fourth patient, with a milder clinical disorder, harboring compound heterozygous POLG c.1879C>T; p.R627W and c.2341G>A; p.A781T mutations.
|
31425757 |
2019 |
|
rs207460001
|
|
|
0.010 |
GeneticVariation |
BEFREE |
G167P suggests possible molecular effects of S151P (corresponding in sequence to G167P) identified as a mitochondrial disease-related mutation in human cytochrome b.
|
26245902 |
2015 |
|
rs28937590
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our aim was to assess whether 232A-->G or other BCS1L mutations were present in infants (n = 21) of Finnish origin with severe, lethal disease compatible with mitochondrial disorder.
|
18386115 |
2008 |
|
rs368849022
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The discovery of the c.1054C>T; p.R352W mutation in the FOXRED1 gene is a further contribution towards resolving the complex puzzle of the genetic basis of human mitochondrial disease.
|
20858599 |
2010 |
|
rs387907087
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The discovery of the c.1054C>T; p.R352W mutation in the FOXRED1 gene is a further contribution towards resolving the complex puzzle of the genetic basis of human mitochondrial disease.
|
20858599 |
2010 |
|
rs542343726
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The discovery of the c.1054C>T; p.R352W mutation in the FOXRED1 gene is a further contribution towards resolving the complex puzzle of the genetic basis of human mitochondrial disease.
|
20858599 |
2010 |
|
rs571825723
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The discovery of the c.1054C>T; p.R352W mutation in the FOXRED1 gene is a further contribution towards resolving the complex puzzle of the genetic basis of human mitochondrial disease.
|
20858599 |
2010 |
|
rs752169833
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Importantly, a specific mitochondria-targeted peptide, Elamipretide/MTP-131, now tested in phase 3 clinical trials for mitochondrial diseases, was found to enhance CHCHD2 with MICOS and mitochondria oxidative phosphorylation enzymes in isogenic NPCs harboring heterozygous R145Q, suggesting that Elamipretide is able to attenuate CHCHD2 R145Q-induced mitochondria dysfunction.
|
30496485 |
2019 |
|
rs753829320
|
|
|
0.010 |
GeneticVariation |
BEFREE |
NGS-based analysis of a gene panel for mitochondrial disorders revealed a homozygous c.892C>T (p. Arg298<sup>*</sup>) in the <i>MFF</i> gene.
|
30581454 |
2018 |
|
rs867410737
|
|
|
0.010 |
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 |
|
rs113994097
|
|
G |
0.720 |
CausalMutation |
CLINVAR |
Decreased male reproductive success in association with mitochondrial dysfunction.
|
28812649 |
2017 |
|
rs113994099
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
Decreased male reproductive success in association with mitochondrial dysfunction.
|
28812649 |
2017 |