rs201865375
×
Entrez Id:
1892
Gene Symbol:
ECHS1
ECHS1
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
C
0.800
CausalMutation
CLINVAR
rs375032130
×
Entrez Id:
1892
Gene Symbol:
ECHS1
ECHS1
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
C
0.800
CausalMutation
CLINVAR
rs587776498
ECHS1;MIR3944
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
A
0.800
CausalMutation
CLINVAR
rs786204001
×
Entrez Id:
1892
Gene Symbol:
ECHS1
ECHS1
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
T
0.800
CausalMutation
CLINVAR
rs864309656
×
Entrez Id:
1892
Gene Symbol:
ECHS1
ECHS1
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
A
0.800
CausalMutation
CLINVAR
rs1318391499
×
Entrez Id:
1892
Gene Symbol:
ECHS1
ECHS1
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
T
0.700
GeneticVariation
CLINVAR
rs150321966
×
Entrez Id:
1892
Gene Symbol:
ECHS1
ECHS1
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
A
0.700
CausalMutation
CLINVAR
rs150321966
×
Entrez Id:
1892
Gene Symbol:
ECHS1
ECHS1
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
A
0.700
GeneticVariation
CLINVAR
rs1554885530
×
Entrez Id:
1892
Gene Symbol:
ECHS1
ECHS1
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
GTT
0.700
CausalMutation
CLINVAR
rs1554886769
ECHS1;MIR3944
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
G
0.700
CausalMutation
CLINVAR
rs371582393
×
Entrez Id:
1892
Gene Symbol:
ECHS1
ECHS1
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
A
0.700
GeneticVariation
CLINVAR
rs565090080
×
Entrez Id:
1892
Gene Symbol:
ECHS1
ECHS1
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
C
0.700
CausalMutation
CLINVAR
rs587776497
ECHS1;MIR3944
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
C
0.700
CausalMutation
CLINVAR
rs754609693
×
Entrez Id:
1892
Gene Symbol:
ECHS1
ECHS1
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
A
0.700
GeneticVariation
CLINVAR
rs758723288
×
Entrez Id:
1892
Gene Symbol:
ECHS1
ECHS1
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
A
0.700
GeneticVariation
CLINVAR
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
26938784
2016
rs770931871
×
Entrez Id:
1892
Gene Symbol:
ECHS1
ECHS1
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
T
0.700
CausalMutation
CLINVAR
rs775650144
×
Entrez Id:
1892
Gene Symbol:
ECHS1
ECHS1
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
A
0.700
GeneticVariation
CLINVAR
rs777218310
×
Entrez Id:
1892
Gene Symbol:
ECHS1
ECHS1
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
C
0.700
CausalMutation
CLINVAR
rs786204002
×
Entrez Id:
1892
Gene Symbol:
ECHS1
ECHS1
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
G
0.700
CausalMutation
CLINVAR
rs201865375
×
Entrez Id:
1892
Gene Symbol:
ECHS1
ECHS1
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
0.800
GeneticVariation
UNIPROT
Novel ECHS1 mutation in an Emirati neonate with severe metabolic acidosis.
27221955
2016
rs201865375
×
Entrez Id:
1892
Gene Symbol:
ECHS1
ECHS1
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
0.800
GeneticVariation
UNIPROT
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
26741492
2016
rs201865375
×
Entrez Id:
1892
Gene Symbol:
ECHS1
ECHS1
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
0.800
GeneticVariation
UNIPROT
ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism.
25125611
2014
rs201865375
×
Entrez Id:
1892
Gene Symbol:
ECHS1
ECHS1
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
0.800
GeneticVariation
UNIPROT
Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion.
26251176
2015
rs201865375
×
Entrez Id:
1892
Gene Symbol:
ECHS1
ECHS1
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
0.800
GeneticVariation
UNIPROT
Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.
26000322
2015
rs201865375
×
Entrez Id:
1892
Gene Symbol:
ECHS1
ECHS1
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
0.800
GeneticVariation
UNIPROT
ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome.
25393721
2015