ECHS1 Chromosome 10

Enoyl-CoA hydratase, short chain 1
72 variants 72 Health Risk

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What This Gene Does
The protein encoded by this gene functions in the second step of the mitochondrial fatty acid beta-oxidation pathway. It catalyzes the hydration of 2-trans-enoyl-coenzyme A (CoA) intermediates to L-3-hydroxyacyl-CoAs. The gene product is a member of the hydratase/isomerase superfamily. It localizes to the mitochondrial matrix. Transcript variants utilizing alternative transcription initiation sites have been described in the literature. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
MicroRNA protein coding host genes
Locus Type
gene with protein product
Location
10q26.3
Ensembl
ENSG00000127884
Associated Conditions (9)
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
ECHS1-related disorder
Inborn genetic diseases
Leigh syndrome
See cases
Thymoma
Thyroid cancer
nonmedullary
1
Key Variants
RS1085307550
Conflicting classifications of pathogenicity
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
Health Risk
RS1276839756
Conflicting classifications of pathogenicity
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
Health Risk
RS140262395
Conflicting classifications of pathogenicity
Health Risk
RS140410716
Conflicting classifications of pathogenicity
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, ECHS1-related disorder, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
Health Risk
RS142639185
Conflicting classifications of pathogenicity
Health Risk
RS144800865
Conflicting classifications of pathogenicity
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
Health Risk
RS1478946630
Conflicting classifications of pathogenicity
Health Risk
RS149399503
Conflicting classifications of pathogenicity
ECHS1-related disorder, ECHS1-related disorder
Health Risk
RS1554885535
Conflicting classifications of pathogenicity
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
Health Risk
RS1589880497
Conflicting classifications of pathogenicity
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
Health Risk
RS181328051
Conflicting classifications of pathogenicity
ECHS1-related disorder, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, ECHS1-related disorder
Health Risk
RS2493842342
Conflicting classifications of pathogenicity
Health Risk
All Variants (72)
RSID Category Clinical Significance Conditions
RS1085307550 Health Risk Conflicting classifications of pathogenicity Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS1276839756 Health Risk Conflicting classifications of pathogenicity Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS140262395 Health Risk Conflicting classifications of pathogenicity —
RS140410716 Health Risk Conflicting classifications of pathogenicity Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, ECHS1-related disorder, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS142639185 Health Risk Conflicting classifications of pathogenicity —
RS144800865 Health Risk Conflicting classifications of pathogenicity Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS1478946630 Health Risk Conflicting classifications of pathogenicity —
RS149399503 Health Risk Conflicting classifications of pathogenicity ECHS1-related disorder, ECHS1-related disorder
RS1554885535 Health Risk Conflicting classifications of pathogenicity Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS1589880497 Health Risk Conflicting classifications of pathogenicity Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS181328051 Health Risk Conflicting classifications of pathogenicity ECHS1-related disorder, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, ECHS1-related disorder
RS2493842342 Health Risk Conflicting classifications of pathogenicity —
RS369960115 Health Risk Conflicting classifications of pathogenicity Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Inborn genetic diseases, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS371582393 Health Risk Conflicting classifications of pathogenicity Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS374193842 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS555404939 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753793522 Health Risk Conflicting classifications of pathogenicity Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS759771909 Health Risk Conflicting classifications of pathogenicity —
RS760182094 Health Risk Conflicting classifications of pathogenicity —
RS762885546 Health Risk Conflicting classifications of pathogenicity Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS765131350 Health Risk Conflicting classifications of pathogenicity Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS770614061 Health Risk Conflicting classifications of pathogenicity Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Inborn genetic diseases, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS775833766 Health Risk Conflicting classifications of pathogenicity Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, ECHS1-related disorder, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS776926045 Health Risk Conflicting classifications of pathogenicity Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS777218310 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Inborn genetic diseases
RS962504241 Health Risk Conflicting classifications of pathogenicity Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS1318391499 Health Risk Likely pathogenic Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS151006739 Health Risk Likely pathogenic —
RS1589878956 Health Risk Likely pathogenic Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS2133440581 Health Risk Likely pathogenic —
RS2133441975 Health Risk Likely pathogenic Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS2133443370 Health Risk Likely pathogenic ECHS1-related disorder, ECHS1-related disorder
RS2493842376 Health Risk Likely pathogenic —
RS2493847739 Health Risk Likely pathogenic Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS371063211 Health Risk Likely pathogenic Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, ECHS1-related disorder, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS372408822 Health Risk Likely pathogenic Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Inborn genetic diseases, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS375266808 Health Risk Likely pathogenic Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS754609693 Health Risk Likely pathogenic Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS761774772 Health Risk Likely pathogenic —
RS933592081 Health Risk Likely pathogenic Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS980941417 Health Risk Likely pathogenic —
RS1164154836 Health Risk Pathogenic Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS1426014295 Health Risk Pathogenic Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS1554885530 Health Risk Pathogenic Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS1554886769 Health Risk Pathogenic Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS1849042311 Health Risk Pathogenic Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS1849069405 Health Risk Pathogenic Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS2133443188 Health Risk Pathogenic Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS2493842433 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS587776497 Health Risk Pathogenic Leigh syndrome, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Leigh syndrome
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