rs28937590
|
BCS1L;ZNF142
|
GRACILE SYNDROME (disorder)
|
G |
0.820 |
CausalMutation |
CLINVAR |
Nuclear gene mutations as the cause of mitochondrial complex III deficiency.
|
25914718 |
2015 |
rs28937590
|
BCS1L;ZNF142
|
GRACILE SYNDROME (disorder)
|
|
0.820 |
GeneticVariation |
BEFREE |
Thus, the novel clinical implication of this study is to screen for BCS1L mutations only if CIII is dysfunctioning or lacking Rieske protein, and to assess 232A-->G mutation in cases with GRACILE syndrome.
|
18386115 |
2008 |
rs28937590
|
BCS1L;ZNF142
|
GRACILE SYNDROME (disorder)
|
|
0.820 |
GeneticVariation |
UNIPROT |
Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.
|
17314340 |
2007 |
rs28937590
|
BCS1L;ZNF142
|
GRACILE SYNDROME (disorder)
|
|
0.820 |
GeneticVariation |
BEFREE |
In the present study, we report the molecular defect causing this metabolic disorder, by identifying a homozygous missense mutation that results in an S78G amino acid change in the BCS1L gene in Finnish patients with GRACILE syndrome, as well as five different mutations in three British infants.
|
12215968 |
2002 |
rs28937590
|
BCS1L;ZNF142
|
GRACILE SYNDROME (disorder)
|
|
0.820 |
GeneticVariation |
UNIPROT |
In the present study, we report the molecular defect causing this metabolic disorder, by identifying a homozygous missense mutation that results in an S78G amino acid change in the BCS1L gene in Finnish patients with GRACILE syndrome, as well as five different mutations in three British infants.
|
12215968 |
2002 |
rs28937590
|
BCS1L;ZNF142
|
GRACILE SYNDROME (disorder)
|
G |
0.820 |
CausalMutation |
CLINVAR |
In the present study, we report the molecular defect causing this metabolic disorder, by identifying a homozygous missense mutation that results in an S78G amino acid change in the BCS1L gene in Finnish patients with GRACILE syndrome, as well as five different mutations in three British infants.
|
12215968 |
2002 |
rs121908575
|
BCS1L;ZNF142
|
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical and biochemical features associated with BCS1L mutation.
|
22991165 |
2013 |
rs121908580
|
BCS1L;ZNF142
|
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical and biochemical features associated with BCS1L mutation.
|
22991165 |
2013 |
rs121908575
|
BCS1L;ZNF142
|
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Infantile mitochondrial encephalomyopathy with unusual phenotype caused by a novel BCS1L mutation in an isolated complex III-deficient patient.
|
19162478 |
2009 |
rs121908580
|
BCS1L;ZNF142
|
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Infantile mitochondrial encephalomyopathy with unusual phenotype caused by a novel BCS1L mutation in an isolated complex III-deficient patient.
|
19162478 |
2009 |
rs121908575
|
BCS1L;ZNF142
|
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Characterization of the mitochondrial protein LETM1, which maintains the mitochondrial tubular shapes and interacts with the AAA-ATPase BCS1L.
|
18628306 |
2008 |
rs121908580
|
BCS1L;ZNF142
|
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Characterization of the mitochondrial protein LETM1, which maintains the mitochondrial tubular shapes and interacts with the AAA-ATPase BCS1L.
|
18628306 |
2008 |
rs121908575
|
BCS1L;ZNF142
|
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.
|
17314340 |
2007 |
rs121908575
|
BCS1L;ZNF142
|
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy.
|
17403714 |
2007 |
rs121908580
|
BCS1L;ZNF142
|
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy.
|
17403714 |
2007 |
rs121908580
|
BCS1L;ZNF142
|
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.
|
17314340 |
2007 |
rs386833857
|
BCS1L;ZNF142
|
GRACILE SYNDROME (disorder)
|
|
0.800 |
GeneticVariation |
UNIPROT |
Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.
|
17314340 |
2007 |
rs121908575
|
BCS1L;ZNF142
|
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene.
|
12910490 |
2003 |
rs121908580
|
BCS1L;ZNF142
|
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene.
|
12910490 |
2003 |
rs386833857
|
BCS1L;ZNF142
|
GRACILE SYNDROME (disorder)
|
|
0.800 |
GeneticVariation |
UNIPROT |
GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L.
|
12215968 |
2002 |
rs121908575
|
BCS1L;ZNF142
|
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.
|
11528392 |
2001 |
rs121908580
|
BCS1L;ZNF142
|
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.
|
11528392 |
2001 |
rs121908575
|
BCS1L;ZNF142
|
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs121908580
|
BCS1L;ZNF142
|
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs386833857
|
BCS1L;ZNF142
|
GRACILE SYNDROME (disorder)
|
A |
0.800 |
GeneticVariation |
CLINVAR |
|
|
|