|
rs28937590
|
|
G |
0.820 |
CausalMutation |
CLINVAR |
Nuclear gene mutations as the cause of mitochondrial complex III deficiency.
|
25914718 |
2015 |
|
rs28937590
|
|
|
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
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.
|
17314340 |
2007 |
|
rs28937590
|
|
|
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
|
|
|
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
|
|
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 |
|
rs386833857
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.
|
17314340 |
2007 |
|
rs386833858
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.
|
17314340 |
2007 |
|
rs386833857
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L.
|
12215968 |
2002 |
|
rs386833858
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L.
|
12215968 |
2002 |
|
rs386833857
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs386833858
|
|
C |
0.800 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs121908572
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Here we report that a homozygous mutation c.296C > T (p.P99L), in the first exon of BCS1L gene found in an affected 2-month-old boy of asymptomatic consanguineous parents results in GRACILE syndrome.
|
24655110 |
2014 |
|
rs121908572
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
Here we report that a homozygous mutation c.296C > T (p.P99L), in the first exon of BCS1L gene found in an affected 2-month-old boy of asymptomatic consanguineous parents results in GRACILE syndrome.
|
24655110 |
2014 |
|
rs121908572
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
Severe renal tubulopathy in a newborn due to BCS1L gene mutation: effects of different treatment modalities on the clinical course.
|
23892085 |
2013 |
|
rs121908572
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.
|
17314340 |
2007 |
|
rs121908572
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.
|
11528392 |
2001 |
|
rs760559534
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Novel heterozygous deletion mutation c.821delC in the AAA domain of BCS1L underlies Björnstad syndrome.
|
28105683 |
2017 |
|
rs1553598145
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity.
|
26489029 |
2016 |
|
rs779331797
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Exome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosis.
|
25895478 |
2015 |
|
rs1553598145
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
A case of Björnstad syndrome caused by novel compound heterozygous mutations in the BCS1L gene.
|
24236502 |
2014 |
|
rs121908576
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
BCS1L gene mutation presenting with GRACILE-like syndrome and complex III deficiency.
|
22277166 |
2012 |
|
rs121908576
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Cellular pathophysiological consequences of BCS1L mutations in mitochondrial complex III enzyme deficiency.
|
20518024 |
2010 |
|
rs1057516518
|
|
GC |
0.700 |
GeneticVariation |
CLINVAR |
Functional analysis of yeast bcs1 mutants highlights the role of Bcs1p-specific amino acids in the AAA domain.
|
19285991 |
2009 |
|
rs121908576
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene.
|
12910490 |
2003 |