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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |