rs121908003
|
|
Deficiency of butyryl-CoA dehydrogenase
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield.
|
28454995 |
2017 |
rs121908003
|
|
Deficiency of butyryl-CoA dehydrogenase
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level.
|
18523805 |
2008 |
rs121908003
|
|
Deficiency of butyryl-CoA dehydrogenase
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Misfolding, degradation, and aggregation of variant proteins. The molecular pathogenesis of short chain acyl-CoA dehydrogenase (SCAD) deficiency.
|
14506246 |
2003 |
rs121908003
|
|
Deficiency of butyryl-CoA dehydrogenase
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency.
|
11134486 |
2001 |
rs121908003
|
|
Deficiency of butyryl-CoA dehydrogenase
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, together conferring susceptibility to ethylmalonic aciduria.
|
9499414 |
1998 |
rs121908003
|
|
Deficiency of butyryl-CoA dehydrogenase
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Rapid degradation of short-chain acyl-CoA dehydrogenase variants with temperature-sensitive folding defects occurs after import into mitochondria.
|
9582344 |
1998 |
rs121908003
|
|
Deficiency of butyryl-CoA dehydrogenase
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Identification of two variant short chain acyl-coenzyme A dehydrogenase alleles, each containing a different point mutation in a patient with short chain acyl-coenzyme A dehydrogenase deficiency.
|
1692038 |
1990 |
rs121908003
|
|
Deficiency of butyryl-CoA dehydrogenase
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of two variant short chain acyl-coenzyme A dehydrogenase alleles, each containing a different point mutation in a patient with short chain acyl-coenzyme A dehydrogenase deficiency.
|
1692038 |
1990 |
rs121908003
|
|
Deficiency of butyryl-CoA dehydrogenase
|
T |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
rs121908006
|
|
Deficiency of butyryl-CoA dehydrogenase
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency.
|
11134486 |
2001 |
rs121908006
|
|
Deficiency of butyryl-CoA dehydrogenase
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, together conferring susceptibility to ethylmalonic aciduria.
|
9499414 |
1998 |
rs121908006
|
|
Deficiency of butyryl-CoA dehydrogenase
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of two variant short chain acyl-coenzyme A dehydrogenase alleles, each containing a different point mutation in a patient with short chain acyl-coenzyme A dehydrogenase deficiency.
|
1692038 |
1990 |
rs121908006
|
|
Deficiency of butyryl-CoA dehydrogenase
|
T |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
rs28940872
|
|
Deficiency of butyryl-CoA dehydrogenase
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Short-chain acyl-CoA dehydrogenase deficiency: from gene to cell pathology and possible disease mechanisms.
|
28516284 |
2017 |
rs28940872
|
|
Deficiency of butyryl-CoA dehydrogenase
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Microcephaly and developmental delay caused by short-chain acyl-CoA dehydrogenase deficiency.
|
30035407 |
2017 |
rs28940872
|
|
Deficiency of butyryl-CoA dehydrogenase
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Fluxomic evidence for impaired contribution of short-chain acyl-CoA dehydrogenase to mitochondrial palmitate β-oxidation in symptomatic patients with ACADS gene susceptibility variants.
|
28532786 |
2017 |
rs28940872
|
|
Deficiency of butyryl-CoA dehydrogenase
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening.
|
23798014 |
2013 |
rs28940872
|
|
Deficiency of butyryl-CoA dehydrogenase
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Follow-up of patients with short-chain acyl-CoA dehydrogenase and isobutyryl-CoA dehydrogenase deficiencies identified through newborn screening: one center's experience.
|
22241096 |
2012 |
rs28940872
|
|
Deficiency of butyryl-CoA dehydrogenase
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level.
|
18523805 |
2008 |
rs28940872
|
|
Deficiency of butyryl-CoA dehydrogenase
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency.
|
16926354 |
2006 |
rs28940872
|
|
Deficiency of butyryl-CoA dehydrogenase
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Misfolding, degradation, and aggregation of variant proteins. The molecular pathogenesis of short chain acyl-CoA dehydrogenase (SCAD) deficiency.
|
14506246 |
2003 |
rs28940872
|
|
Deficiency of butyryl-CoA dehydrogenase
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency.
|
11134486 |
2001 |
rs28940872
|
|
Deficiency of butyryl-CoA dehydrogenase
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency.
|
11134486 |
2001 |
rs28940872
|
|
Deficiency of butyryl-CoA dehydrogenase
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, together conferring susceptibility to ethylmalonic aciduria.
|
9499414 |
1998 |
rs28940872
|
|
Deficiency of butyryl-CoA dehydrogenase
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, together conferring susceptibility to ethylmalonic aciduria.
|
9499414 |
1998 |