NM_004092.4(ECHS1):c.88+5G>APathogenic
not provided|Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
β
β
ββ2026
NM_004092.4(ECHS1):c.817A>G (p.Lys273Glu)Pathogenic
not provided|Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency|Inborn genetic diseases
β
β
ββ2026β Residue 273
NM_004092.4(ECHS1):c.476A>G (p.Gln159Arg)Pathogenic
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency|not provided|See cases
β
β
ββ2026β Residue 159
NM_004092.4(ECHS1):c.518C>T (p.Ala173Val)Pathogenic
not provided|Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency|Inborn genetic diseases
β
β
ββ2026β Residue 173
NM_004092.4(ECHS1):c.394G>A (p.Ala132Thr)Pathogenic
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency|not provided
β
β
ββ2026β Residue 132
NM_004092.4(ECHS1):c.583G>A (p.Gly195Ser)Pathogenic
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency|not provided
β
β
ββ2026β Residue 195
NM_004092.4(ECHS1):c.5C>T (p.Ala2Val)Pathogenic
Leigh syndrome|Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency|not provided
β
β
ββ2025β Residue 2
NM_004092.4(ECHS1):c.713C>T (p.Ala238Val)Pathogenic
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency|not provided
β
β
ββ2025β Residue 238
NM_004092.4(ECHS1):c.123_124del (p.Gly42fs)Pathogenic
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency|not provided|See cases|Leigh syndrome
β
β
ββ2025β Residue 42
NM_004092.4(ECHS1):c.176A>G (p.Asn59Ser)Pathogenic
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency|not provided|ECHS1-related disorder
β
β
ββ2025β Residue 59
NM_004092.4(ECHS1):c.139G>A (p.Val47Met)Likely pathogenic
not provided
β
β
ββ2025β Residue 47
NM_004092.4(ECHS1):c.161G>A (p.Arg54His)Pathogenic
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency|not provided
β
β
ββ2025β Residue 54
NM_004092.4(ECHS1):c.414+1G>APathogenic
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency|Thymoma|not provided|Thyroid cancer, nonmedullary, 1
β
β
ββ2024
NM_004092.4(ECHS1):c.160C>T (p.Arg54Cys)Pathogenic
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency|not provided|ECHS1-related disorder
β
β
ββ2024β Residue 54
NM_004092.4(ECHS1):c.538A>G (p.Thr180Ala)Pathogenic
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency|not provided
β
β
ββ2024β Residue 180
NM_004092.4(ECHS1):c.830C>T (p.Thr277Ile)Pathogenic
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency|not provided
β
β
ββ2024β Residue 277
NM_004092.4(ECHS1):c.541C>T (p.Arg181Cys)Likely pathogenic
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency|not provided
β
β
ββ2024β Residue 181
NM_004092.4(ECHS1):c.832G>A (p.Ala278Thr)Likely pathogenic
not provided|Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
β
β
ββ2023β Residue 278
NM_004092.4(ECHS1):c.601C>T (p.Gln201Ter)Pathogenic
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency|not provided
β
β
ββ2023β Residue 201
NM_004092.4(ECHS1):c.370dup (p.Thr124fs)Pathogenic
Inborn genetic diseases|not provided
β
β
ββ2023β Residue 124