ECHS1 (enoyl-CoA hydratase, short chain 1)

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Gene: ECHS1 (enoyl-CoA hydratase, short chain 1) Homo sapiens

Analyze

Symbol:

ECHS1

Name:

enoyl-CoA hydratase, short chain 1

RGD ID:

734312

HGNC Page

HGNC

Description:

Exhibits enoyl-CoA hydratase activity. Involved in fatty acid beta-oxidation. Localizes to mitochondrion.

Type:

protein-coding

RefSeq Status:

REVIEWED

Also known as:

ECHS1D; enoyl CoA hydratase, short chain, 1, mitochondrial; enoyl Coenzyme A hydratase, short chain, 1, mitochondrial; enoyl-CoA hydratase 1; enoyl-CoA hydratase, mitochondrial; enoyl-CoA hydratase, short chain, 1, mitochondrial; SCEH; short chain enoyl-CoA hydratase; short-chain enoyl-CoA hydratase

RGD Orthologs

Mouse

Rat

Chinchilla

Bonobo

Dog

Squirrel

Pig

Green Monkey

Naked Mole-Rat

Alliance Genes

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38.p13 Ensembl	10	133,362,485 - 133,373,354 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	10	133,362,480 - 133,373,396 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	10	135,175,989 - 135,186,858 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	10	135,025,980 - 135,036,898 (-)	NCBI	NCBI36		hg18	NCBI36
Build 34	10	135,064,870 - 135,075,789	NCBI
Celera	10	128,330,716 - 128,341,541 (+)	NCBI
Cytogenetic Map	10	q26.3	NCBI
HuRef	10	128,720,102 - 128,735,596 (-)	NCBI		HuRef
CHM1_1	10	135,457,879 - 135,468,770 (-)	NCBI		CHM1_1

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

Chemical and Drug Induced Liver Injury (EXP)

genetic disease (IAGP)

Leigh disease (EXP,IAGP)

MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY (IAGP)

obesity (EXP)

Stomach Neoplasms (EXP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-catechin (EXP)

(+)-schisandrin B (ISO)

(R)-adrenaline (ISO)

1,2-dimethylhydrazine (ISO)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

2-hydroxypropanoic acid (EXP)

3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine (ISO)

3-chloropropane-1,2-diol (ISO)

5-fluorouracil (EXP)

5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole (ISO)

6-propyl-2-thiouracil (ISO)

7H-xanthine (ISO)

8-Br-cAMP (EXP)

9H-xanthine (ISO)

acryloyl-CoA (EXP)

aflatoxin B1 (EXP,ISO)

amiodarone (ISO)

ammonium chloride (ISO)

arsane (EXP)

arsenic atom (EXP)

arsenous acid (EXP)

atrazine (EXP)

benzbromarone (ISO)

benzo[a]pyrene (EXP)

bisphenol A (EXP,ISO)

cadmium atom (ISO)

carbon nanotube (ISO)

cisplatin (ISO)

clofibrate (ISO)

copper atom (ISO)

copper(0) (ISO)

copper(II) sulfate (EXP)

CU-O LINKAGE (EXP)

cyclosporin A (EXP,ISO)

cylindrospermopsin (ISO)

diarsenic trioxide (EXP)

dibutyl phthalate (ISO)

doxorubicin (EXP,ISO)

entacapone (ISO)

fenofibrate (EXP)

flutamide (ISO)

folic acid (ISO)

fructose (ISO)

fumonisin B1 (ISO)

furan (ISO)

GW 4064 (EXP)

GW 7647 (EXP)

ketamine (ISO)

L-ethionine (ISO)

lamivudine (ISO)

lead(0) (EXP)

lead(2+) (EXP)

linalool (EXP)

methacrylyl-CoA (EXP)

methapyrilene (ISO)

methotrexate (EXP)

microcystin RR (EXP)

N-nitrosodiethylamine (ISO)

N-nitrosomorpholine (ISO)

niclosamide (EXP)

oleic acid (EXP)

omeprazole (ISO)

ouabain (EXP)

oxybenzone (ISO)

paracetamol (EXP,ISO)

perfluorooctanoic acid (ISO)

phenethyl caffeate (ISO)

phenobarbital (ISO)

phlorizin (ISO)

pirinixic acid (ISO)

pregnenolone 16alpha-carbonitrile (ISO)

progesterone (ISO)

rac-lactic acid (EXP)

SB 431542 (EXP)

sodium arsenite (ISO)

Soman (ISO)

streptozocin (ISO)

sunitinib (EXP)

tert-butyl hydroperoxide (ISO)

tetrachloromethane (ISO)

thioacetamide (ISO)

titanium dioxide (ISO)

tolcapone (ISO)

Tributyltin oxide (ISO)

valproic acid (EXP,ISO)

vinclozolin (ISO)

zearalenone (ISO)

zidovudine (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

branched-chain amino acid catabolic process (TAS)

fatty acid beta-oxidation (IBA,IDA,IEA,ISO,TAS)

Cellular Component

mitochondrial matrix (TAS)

mitochondrion (IBA,IDA,ISO,TAS)

Molecular Function

3-hydroxypropionyl-CoA dehydratase activity (IEA)

crotonyl-CoA hydratase activity (IEA)

enoyl-CoA hydratase activity (EXP,IBA,IDA,ISO)

protein binding (IPI)

Molecular Pathway Annotations Click to see Annotation Detail View

2-aminoadipic 2-oxoadipic aciduria pathway (EXP)

3-hydroxy-3-methylglutaryl-CoA lyase deficiency pathway (EXP)

3-hydroxyacyl-CoA dehydrogenase deficiency pathway (EXP)

3-hydroxyisobutyric aciduria pathway (EXP)

3-methylcrotonyl CoA carboxylase 1 deficiency pathway (EXP)

3-methylglutaconic aciduria type 1 pathway (EXP)

3-methylglutaconic aciduria type 3 pathway (EXP)

beta-alanine metabolic pathway (IEA)

butanoate metabolic pathway (EXP,IEA)

carnitine palmitoyltransferase I deficiency pathway (EXP)

ethylmalonic encephalopathy pathway (EXP)

fatty acid beta degradation pathway (EXP,ISO)

fatty acid elongation pathway (EXP)

fatty acid metabolic pathway (EXP)

glutaric aciduria type I pathway (EXP)

hyperlysinemia pathway (EXP)

isobutyryl-CoA dehydrogenase deficiency pathway (EXP)

isovaleric acidemia pathway (EXP)

lysine degradation pathway (EXP,IEA)

malonic aciduria pathway (EXP)

maple syrup urine disease pathway (EXP)

medium chain acyl-CoA dehydrogenase deficiency pathway (EXP)

methylmalonate semialdehyde dehydrogenase deficiency pathway (EXP)

methylmalonic acidemia pathway (EXP)

methylmalonic aciduria, cobalamin-related pathway (EXP)

propanoate metabolic pathway (EXP,IEA)

propionic acidemia pathway (EXP)

saccharopinuria pathway (EXP)

short-chain acyl-CoA dehydrogenase deficiency pathway (EXP)

trifunctional protein deficiency pathway (EXP)

tryptophan metabolic pathway (IEA)

valine, leucine and isoleucine degradation pathway (EXP,IEA)

very long-chain acyl-CoA dehydrogenase deficiency pathway (EXP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Anemia (IAGP)

Apnea (IAGP)

Autosomal recessive inheritance (IAGP)

Decreased activity of mitochondrial respiratory chain (IAGP)

Decreased activity of the pyruvate dehydrogenase complex (IAGP)

Dysarthria (IAGP)

Dystonia (IAGP)

Emotional lability (IAGP)

Failure to thrive (IAGP)

Focal T2 hyperintense basal ganglia lesion (IAGP)

Generalized hypotonia (IAGP)

Global developmental delay (IAGP)

Hearing impairment (IAGP)

Hyperreflexia (IAGP)

Hypertrichosis (IAGP)

Hypertrophic cardiomyopathy (IAGP)

Hypotonia (IAGP)

Increased CSF lactate (IAGP)

Increased serum lactate (IAGP)

Intellectual disability, severe (IAGP)

Leukodystrophy (IAGP)

Nystagmus (IAGP)

Ophthalmoplegia (IAGP)

Optic atrophy (IAGP)

Peripheral neuropathy (IAGP)

Pigmentary retinopathy (IAGP)

Progressive cerebellar ataxia (IAGP)

Progressive spastic paraplegia (IAGP)

Ptosis (IAGP)

Seizure (IAGP)

Spasticity (IAGP)

Strabismus (IAGP)

Ventricular septal defect (IAGP)

References

References - curated


1.	Feng Y, etal., Biochemistry. 2002 Oct 22;41(42):12883-90.
2.	GOA_HUMAN data from the GO Consortium
3.	KEGG
4.	Pipeline to import KEGG annotations from KEGG into RGD
5.	Pipeline to import SMPDB annotations from SMPDB into RGD
6.	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7.	RGD automated import pipeline for gene-chemical interactions
8.	RGD automated import pipeline for human HPO-to-gene-to-disease annotations

Additional References at PubMed

PMID:1286669	PMID:1602151	PMID:1988037	PMID:7669045	PMID:8012501	PMID:9073515	PMID:11271497	PMID:12358155	PMID:12477932	PMID:13295248	PMID:14557246	PMID:15164054
PMID:15489334	PMID:16130169	PMID:16169070	PMID:17353931	PMID:17395278	PMID:18029348	PMID:18624398	PMID:19913121	PMID:20562859	PMID:20628086	PMID:20877624	PMID:21800051
PMID:21873635	PMID:21988832	PMID:22658674	PMID:22863883	PMID:23178449	PMID:23275097	PMID:23376485	PMID:23416296	PMID:23879543	PMID:24510904	PMID:24711643	PMID:24947832
PMID:25125611	PMID:25338767	PMID:25393721	PMID:25739098	PMID:25760819	PMID:25921289	PMID:26099313	PMID:26186194	PMID:26251176	PMID:26344197	PMID:26496610	PMID:27090768
PMID:27173435	PMID:27342126	PMID:27609421	PMID:27905109	PMID:28202214	PMID:28276505	PMID:28330616	PMID:28409271	PMID:28514442	PMID:28878358	PMID:29117863	PMID:29128334
PMID:29395067	PMID:29478914	PMID:29513927	PMID:29568061	PMID:30021884	PMID:30463901	PMID:30575818	PMID:30948266	PMID:31046837	PMID:31056398	PMID:31091453	PMID:31219693
PMID:31478661	PMID:31536960	PMID:31586073	PMID:31617661	PMID:31690668	PMID:31722399	PMID:31740976	PMID:31891870	PMID:32677908	PMID:32877691

Genomics

Comparative Map Data

ECHS1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38.p13 Ensembl	10	133,362,485 - 133,373,354 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	10	133,362,480 - 133,373,396 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	10	135,175,989 - 135,186,858 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	10	135,025,980 - 135,036,898 (-)	NCBI	NCBI36		hg18	NCBI36
Build 34	10	135,064,870 - 135,075,789	NCBI
Celera	10	128,330,716 - 128,341,541 (+)	NCBI
Cytogenetic Map	10	q26.3	NCBI
HuRef	10	128,720,102 - 128,735,596 (-)	NCBI		HuRef
CHM1_1	10	135,457,879 - 135,468,770 (-)	NCBI		CHM1_1

Echs1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	7	139,685,623 - 139,696,334 (-)	NCBI	GRCm39		mm39
GRCm39 Ensembl	7	139,685,623 - 139,696,389 (-)	Ensembl
GRCm38	7	140,105,710 - 140,116,421 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	7	140,105,710 - 140,116,476 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	7	147,291,622 - 147,302,322 (-)	NCBI	GRCm37		mm9	NCBIm37
MGSCv36	7	139,957,043 - 139,967,743 (-)	NCBI			mm8
Celera	7	139,903,786 - 139,914,486 (-)	NCBI		Celera
Cytogenetic Map	7	F4	NCBI

Echs1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mRatBN7.2	1	194,895,036 - 194,903,863 (-)	NCBI
Rnor_6.0 Ensembl	1	212,570,195 - 212,579,057 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_6.0 Ensembl	1	141,821,916 - 141,830,764 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_6.0	1	212,570,213 - 212,579,040 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_5.0	1	219,484,862 - 219,493,689 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	1	199,901,585 - 199,910,412 (-)	NCBI	RGSC3.4		rn4	RGSC3.4
RGSC_v3.1	1	200,051,577 - 200,060,404 (-)	NCBI
Celera	1	192,572,098 - 192,580,925 (-)	NCBI		Celera
Cytogenetic Map	1	q41	NCBI

Echs1
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955477	11,012,451 - 11,021,486 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955477	11,012,451 - 11,021,487 (-)	NCBI	ChiLan1.0	ChiLan1.0

ECHS1
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
PanPan1.1	10	134,278,388 - 134,289,308 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	10	134,278,388 - 134,289,308 (-)	Ensembl	panpan1.1		panPan2

ECHS1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	28	40,939,856 - 40,947,694 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	28	40,939,961 - 40,946,167 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	28	40,994,970 - 41,002,785 (-)	NCBI
ROS_Cfam_1.0	28	41,574,846 - 41,582,544 (-)	NCBI
UMICH_Zoey_3.1	28	41,058,933 - 41,067,149 (-)	NCBI
UNSW_CanFamBas_1.0	28	41,048,529 - 41,056,202 (-)	NCBI
UU_Cfam_GSD_1.0	28	41,451,431 - 41,459,252 (-)	NCBI

Echs1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024407213	6,064,697 - 6,072,679 (+)	NCBI
SpeTri2.0	NW_004936486	19,488,619 - 19,496,583 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

ECHS1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	14	141,335,990 - 141,349,030 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	14	141,340,320 - 141,348,870 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1

ECHS1
(Chlorocebus sabaeus - African green monkey)

Vervet Assembly	Chr	Position (strand)	Source	Genome Browsers
Vervet Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	26	53,212,299 - 53,222,805 (-)	NCBI

Echs1
(Heterocephalus glaber - naked mole-rat)

Molerat Assembly	Chr	Position (strand)	Source	Genome Browsers
Molerat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla 1.0	NW_004624737	13,329,052 - 13,338,358 (+)	NCBI

Position Markers

D10S1700

Human Assembly	Chr	Position (strand)	Source
Celera	10	128,340,626 - 128,340,753	RGD
Cytogenetic Map	10	q26.2-q26.3	UniSTS
HuRef	10	128,720,890 - 128,721,019	UniSTS
Marshfield Genetic Map	10	172.26	RGD
Marshfield Genetic Map	10	172.26	UniSTS
Genethon Genetic Map	10	181.7	UniSTS

D10S2290

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	10	135,176,016 - 135,176,351	UniSTS	GRCh37
Build 36	10	135,026,006 - 135,026,341	RGD	NCBI36
Celera	10	128,341,177 - 128,341,512	RGD
Cytogenetic Map	10	q26.2-q26.3	UniSTS
HuRef	10	128,720,131 - 128,720,466	UniSTS
Stanford-G3 RH Map	10	6267.0	UniSTS
NCBI RH Map	10	1398.7	UniSTS
GeneMap99-G3 RH Map	10	6503.0	UniSTS

RH67939

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	10	135,176,102 - 135,176,211	UniSTS	GRCh37
Build 36	10	135,026,092 - 135,026,201	RGD	NCBI36
Celera	10	128,341,317 - 128,341,426	RGD
Cytogenetic Map	10	q26.2-q26.3	UniSTS
HuRef	10	128,720,217 - 128,720,326	UniSTS
GeneMap99-GB4 RH Map	10	561.05	UniSTS
NCBI RH Map	10	1382.8	UniSTS

G54149

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	10	135,176,034 - 135,176,185	UniSTS	GRCh37
Build 36	10	135,026,024 - 135,026,175	RGD	NCBI36
Celera	10	128,341,343 - 128,341,494	RGD
Cytogenetic Map	10	q26.2-q26.3	UniSTS
HuRef	10	128,720,149 - 128,720,300	UniSTS

G60572

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	10	135,176,694 - 135,176,976	UniSTS	GRCh37
Build 36	10	135,026,684 - 135,026,966	RGD	NCBI36
Celera	10	128,340,546 - 128,340,834	RGD
Cytogenetic Map	10	q26.2-q26.3	UniSTS
HuRef	10	128,720,809 - 128,721,099	UniSTS

D10S1291E

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	10	135,176,042 - 135,176,217	UniSTS	GRCh37
Build 36	10	135,026,032 - 135,026,207	RGD	NCBI36
Celera	10	128,341,311 - 128,341,486	RGD
Cytogenetic Map	10	q26.2-q26.3	UniSTS
HuRef	10	128,720,157 - 128,720,332	UniSTS

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	233
Count of miRNA genes:	222
Interacting mature miRNAs:	225
Transcripts:	ENST00000368547
Prediction methods:	Miranda, Rnahybrid
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Expression

RNA-SEQ Expression

High: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

adipose tissue

appendage

entire extraembryonic component

High

Medium

2432

2891

1671

570

1865

412

4355

2181

3708

396

1423

1608

171

1203

2788

Low

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_042077	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_004092	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_002956965	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AL360181	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC008906	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC013264	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BE906357	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BI091611	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BQ130816	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BT007123	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471211	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	D13900	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	GQ900889	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X98126	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X98127	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X98128	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X98129	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Reference Sequences

RefSeq Acc Id:

ENST00000368547 ⟹ ENSP00000357535

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	10	133,362,485 - 133,373,354 (-)	Ensembl

RefSeq Acc Id:

NM_004092 ⟹ NP_004083

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	10	133,362,485 - 133,373,354 (-)	NCBI
GRCh37	10	135,175,987 - 135,186,908 (-)	ENTREZGENE
Build 36	10	135,025,980 - 135,036,898 (-)	NCBI Archive
HuRef	10	128,720,102 - 128,735,596 (-)	ENTREZGENE
CHM1_1	10	135,457,879 - 135,468,770 (-)	NCBI

Sequence:

show sequence

GCGGAGCGAGCCCTGAAAGGCTATAGGCGAGGGGGCGGCTCCGCGGGGCCGGGCGAGGAGTCCA
GAGAGCCATGGCCGCCCTGCGTGTCCTGCTGTCCTGCGTCCGCGGCCCGCTGAGGCCCCCGGTT
CGCTGTCCCGCCTGGCGTCCCTTCGCCTCGGGTGCTAACTTTGAGTACATCATCGCAGAAAAAA
GAGGGAAGAATAACACCGTGGGGTTGATCCAACTGAACCGCCCCAAGGCCCTCAATGCACTTTG
CGATGGCCTGATTGACGAGCTCAACCAGGCCCTGAAGACCTTCGAGGAGGACCCGGCCGTGGGG
GCCATTGTCCTCACCGGCGGGGATAAGGCCTTTGCAGCTGGAGCTGATATCAAGGAAATGCAGA
ACCTGAGTTTCCAGGACTGTTACTCCAGCAAGTTCTTGAAGCACTGGGACCACCTCACCCAGGT
CAAGAAGCCAGTCATCGCTGCTGTCAATGGCTATGCCTTTGGCGGGGGCTGTGAGCTTGCCATG
ATGTGTGATATCATCTATGCCGGTGAGAAGGCCCAGTTTGCACAGCCGGAGATCTTAATAGGAA
CCATCCCAGGTGCGGGCGGCACCCAGAGACTCACCCGTGCTGTTGGGAAGTCGCTGGCGATGGA
GATGGTCCTCACTGGTGACCGGATCTCAGCCCAGGACGCCAAGCAAGCAGGTCTTGTCAGCAAG
ATTTGTCCTGTTGAGACACTGGTGGAAGAAGCCATCCAGTGTGCAGAAAAAATTGCCAGCAATT
CTAAAATTGTAGTAGCGATGGCCAAAGAATCAGTGAATGCAGCTTTTGAAATGACATTAACAGA
AGGAAGTAAGTTGGAGAAGAAACTCTTTTATTCAACCTTTGCCACTGATGACCGGAAAGAAGGG
ATGACCGCGTTTGTGGAAAAGAGAAAGGCCAACTTCAAAGACCAGTGAGAACCAGCTGCCCCTG
CTTCACACCTCTGCTTGGAGAGGACAAGTGCAGCCTGTCAGTTTTAGAAGCAAGTAAATCATCC
TCTTTTCAAGAGCAGTGTCCGTGGTGTGCAGTTCCTCTCCAATTGCTGCGTGGTCGTGGCCCGA
CCTCTCACGGCATGACAGCCTTCGTCACCCAGCCTGTGAGGGTCCTGACTGGAGCACCTTCTAA
ATCTAAGATTCTGCTGAGGAGCCCCCGCTGGTCCCTCTGGGCATGCTGTGCTCGGACGGAAAGC
GGGGCCTGCGGGTCCTTGTGTCCCTGCCGCTGAAGAATGGGGCTGCTCTGAGGGAAACGCTGTC
TGCTGCCTTCATACAGATGCTGATTAAAGTGATAGCGATTCAGATTACAAAAAAAAAAAAAAAA
AAAAAA

hide sequence

RefSeq Acc Id:

XR_002956965

RefSeq Status:

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	10	133,362,480 - 133,373,396 (-)	NCBI

Sequence:

show sequence

AGCCCTGAAAGGCTATAGGCGAGGGGGCGGCTCCGCGGGGCCGGGCGAGGAGTCCAGAGAGCCA
TGGCCGCCCTGCGTGTCCTGCTGTCCTGCGTCCGCGGCCCGCTGAGGCCCCCGGTTCGCTGTCC
CGCCTGGCGTCCCTTCGCCTCGGGTGCTAACTTTGAGTACATCATCGCAGAAAAAAGAGGGAAG
AATAACACCGTGGGGTTGATCCAACTGAACCGCCCCAAGGCCCTCAATGCACTTTGCGATGGCC
TGATTGACGAGCTCAACCAGGCCCTGAAGACCTTCGAGGAGGACCCGGCCGTGGGGGCCATTGT
CCTCACCGGCGGGGATAAGGCCTTTGCAGCTGGAGCTGATATCAAGGAAATGCAGAACCTGAGT
TTCCAGGACTGTTACTCCAGCAAGTTCTTGAAGCACTGGGACCACCTCACCCAGGTCAAGAAGC
CAGTCATCGCTGCTGTCAATGGCTATGCCTTTGGCGGGGGCTGTGAGCTTGCCATGATGTGTGA
TATCATCTATGCCGGTGAGAAGGCCCAGTTTGCACAGCCGGAGATCTTAATAGGAACCATCCCA
GGTGCGGGCGGCACCCAGAGACTCACCCGTGCTGTTGGGAAGTCGCTGGCGATGGAGATGGTCC
TCACTGGTGACCGGATCTCAGCCCAGGACGCCAAGCAAGCAGGTATGGGTTGGGGCTGCCCGCA
AGAGCCACCTGGAAACCCGGGGTGGGAGCCCCACAGAAACCCAGGGCGGCATCCAGGTGTCCCC
CTCGGGGGAGCCCCACAGAAACCCGGGGCAGCATCCAGGTGTCCCCCTCATGGGTGCCCCACAG
AAACCCTGAGCTGCATCCAGTTGTCTCCCTCGTGGGAGCCCCACAGAAACCCAGAGCTGCATCC
AGGTGTCCCCCATGGGGGAGCCCCACAGAAACCCAGGGCGGCATCCAGGTGTCCCCCTCGTGGG
AGCCCCACAGAAACCCCGGGCAGCATCCAAGTGCCCCCACGGTGGTTGCATGAGCTTTTGGGTC
CTGAGGACCTGGGAGAAGACTGACTGCCTTTTGTTTCTACATTTTGAAGTACTGTATGTACGGA
AGTGAACCACACGTAAGTATCTGGTACAGAATAACAGCCCAGCAATTGCGTCCCCAAAATGCAG
TGTAAGCAATGGGCATCTCCAGGCCTCAGTGGCCGGTCCTCCCACTGCCCTGTTGGTGATCACA
GTCCCCGTGTCTGGCCGCCTCTGCCGTCGGAGCTGTGGCCAGCCTGGCCCACATGTCTGAGAGC
ACAGTGACCGCAGTGCCGAGATCACTCAGCACTCAGGAAGGGGCACGTGCGGCACTTCCCGTGT
GGAAGCCGCCCTTGCTTAGCGTCCAGAGGCTGGGGTGCTCCAGCCACGCTGCTCCCCAGCGGCC
ACTCACTCGAGAAGGGATAGACAAGTGCTGTTTCTGCACATCACTCACTGACTTTCTTGTGTTT
CAGGTCTTGTCAGCAAGATTTGTCCTGTTGAGACACTGGTGGAAGAAGCCATCCAGTGTGCAGA
AAAAATTGCCAGCAATTCTAAAATTGTAGTAGCGATGGCCAAAGAATCAGTGAATGCAGCTTTT
GAAATGACATTAACAGAAGGAAGTAAGTTGGAGAAGAAACTCTTTTATTCAACCTTTGCCACTG
ATGACCGGAAAGAAGGGATGACCGCGTTTGTGGAAAAGAGAAAGGCCAACTTCAAAGACCAGTG
AGAACCAGCTGCCCCTGCTTCACACCTCTGCTTGGAGAGGACAAGTGCAGCCTGTCAGTTTTAG
AAGCAAGTAAATCATCCTCTTTTCAAGAGCAGTGTCCGTGGTGTGCAGTTCCTCTCCAATTGCT
GCGTGGTCGTGGCCCGACCTCTCACGGCATGACAGCCTTCGTCACCCAGCCTGTGAGGGTCCTG
ACTGGAGCACCTTCTAAATCTAAGATTCTGCTGAGGAGCCCCCGCTGGTCCCTCTGGGCATGCT
GTGCTCGGACGGAAAGCGGGGCCTGCGGGTCCTTGTGTCCCTGCCGCTGAAGAATGGGGCTGCT
CTGAGGGAAACGCTGTCTGCTGCCTTCATACAGATGCTGATTAAAGTGATAGCGATTCAGATTA
CACCA

hide sequence

Protein Sequences


Protein RefSeqs	NP_004083	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH08906	(Get FASTA)	NCBI Sequence Viewer
	AAP35787	(Get FASTA)	NCBI Sequence Viewer
	ADO22406	(Get FASTA)	NCBI Sequence Viewer
	BAA03001	(Get FASTA)	NCBI Sequence Viewer
	CAA66808	(Get FASTA)	NCBI Sequence Viewer
	EAW61339	(Get FASTA)	NCBI Sequence Viewer
	P30084	(Get FASTA)	NCBI Sequence Viewer

Reference Sequences

RefSeq Acc Id:

NP_004083 ⟸ NM_004092

- UniProtKB:

P30084 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MAALRVLLSCVRGPLRPPVRCPAWRPFASGANFEYIIAEKRGKNNTVGLIQLNRPKALNALCDG
LIDELNQALKTFEEDPAVGAIVLTGGDKAFAAGADIKEMQNLSFQDCYSSKFLKHWDHLTQVKK
PVIAAVNGYAFGGGCELAMMCDIIYAGEKAQFAQPEILIGTIPGAGGTQRLTRAVGKSLAMEMV
LTGDRISAQDAKQAGLVSKICPVETLVEEAIQCAEKIASNSKIVVAMAKESVNAAFEMTLTEGS
KLEKKLFYSTFATDDRKEGMTAFVEKRKANFKDQ

hide sequence

RefSeq Acc Id:

ENSP00000357535 ⟸ ENST00000368547

Promoters

RGD ID:

7219065

Promoter ID:

EPDNEW_H15278

Type:

initiation region

Name:

ECHS1_1

Description:

enoyl-CoA hydratase, short chain 1

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H15279

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	10	133,373,341 - 133,373,401	EPDNEW

RGD ID:

7219067

Promoter ID:

EPDNEW_H15279

Type:

initiation region

Name:

ECHS1_2

Description:

enoyl-CoA hydratase, short chain 1

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H15278

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	10	133,373,730 - 133,373,790	EPDNEW

RGD ID:

6787520

Promoter ID:

HG_KWN:11762

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, K562, Lymphoblastoid, NB4

Transcripts:

OTTHUMT00000051156

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	10	135,036,746 - 135,037,482 (-)	MPROMDB

RGD ID:

6853326

Promoter ID:

EP74488

Type:

initiation region

Name:

HS_ECHS1

Description:

Enoyl Coenzyme A hydratase, short chain, 1, mitochondrial.

SO ACC ID:

SO:0000170

Source:

EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

Mammalian gene collection (MGC) full-length cDNA cloning

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	10	135,036,836 - 135,036,896	EPD

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_004092.4(ECHS1):c.836T>C (p.Phe279Ser)	single nucleotide variant	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency [RCV000764883]\|not provided [RCV000521552]	Chr10:133362905 [GRCh38] Chr10:135176409 [GRCh37] Chr10:10q26.3	uncertain significance
NM_004092.4(ECHS1):c.463G>A (p.Gly155Ser)	single nucleotide variant	not provided [RCV000522633]	Chr10:133368974 [GRCh38] Chr10:135182478 [GRCh37] Chr10:10q26.3	uncertain significance
GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	copy number gain	See cases [RCV000051218]	Chr10:111313099..133620674 [GRCh38] Chr10:113072857..135434178 [GRCh37] Chr10:113062847..135284168 [NCBI36] Chr10:10q25.2-26.3	pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:123307835-133620674)x1	copy number loss	See cases [RCV000051150]	Chr10:123307835..133620674 [GRCh38] Chr10:125067351..135434178 [GRCh37] Chr10:125057341..135284168 [NCBI36] Chr10:10q26.13-26.3	pathogenic
GRCh38/hg38 10q26.12-26.3(chr10:120454430-133620674)x1	copy number loss	See cases [RCV000051103]	Chr10:120454430..133620674 [GRCh38] Chr10:122213942..135434178 [GRCh37] Chr10:122203932..135284168 [NCBI36] Chr10:10q26.12-26.3	pathogenic
GRCh38/hg38 10q26.3(chr10:133001134-133620674)x1	copy number loss	See cases [RCV000051165]	Chr10:133001134..133620674 [GRCh38] Chr10:134814638..135434178 [GRCh37] Chr10:134664628..135284168 [NCBI36] Chr10:10q26.3	uncertain significance
GRCh38/hg38 10q26.3(chr10:131457361-133620674)x1	copy number loss	See cases [RCV000050997]	Chr10:131457361..133620674 [GRCh38] Chr10:133255624..135434178 [GRCh37] Chr10:133145614..135284168 [NCBI36] Chr10:10q26.3	pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:122265252-133620674)x1	copy number loss	See cases [RCV000051069]	Chr10:122265252..133620674 [GRCh38] Chr10:124024767..135434178 [GRCh37] Chr10:124014757..135284168 [NCBI36] Chr10:10q26.13-26.3	pathogenic
GRCh38/hg38 10q26.3(chr10:132445383-133398465)x3	copy number gain	See cases [RCV000051692]	Chr10:132445383..133398465 [GRCh38] Chr10:134258887..135211969 [GRCh37] Chr10:134108877..135061959 [NCBI36] Chr10:10q26.3	uncertain significance
GRCh38/hg38 10q26.3(chr10:131914873-133613938)x1	copy number loss	See cases [RCV000052643]	Chr10:131914873..133613938 [GRCh38] Chr10:133728377..135427442 [GRCh37] Chr10:133578367..135277432 [NCBI36] Chr10:10q26.3	pathogenic
GRCh38/hg38 10q26.3(chr10:132475849-133620674)x1	copy number loss	See cases [RCV000052644]	Chr10:132475849..133620674 [GRCh38] Chr10:134289353..135434178 [GRCh37] Chr10:134139343..135284168 [NCBI36] Chr10:10q26.3	pathogenic
GRCh38/hg38 10q26.2-26.3(chr10:126256585-133613938)x1	copy number loss	See cases [RCV000052612]	Chr10:126256585..133613938 [GRCh38] Chr10:127945154..135427442 [GRCh37] Chr10:127935144..135277432 [NCBI36] Chr10:10q26.2-26.3	pathogenic
GRCh38/hg38 10q26.2-26.3(chr10:127500483-133620674)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052613]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052613]\|See cases [RCV000052613]	Chr10:127500483..133620674 [GRCh38] Chr10:129298747..135434178 [GRCh37] Chr10:129188737..135284168 [NCBI36] Chr10:10q26.2-26.3	pathogenic
GRCh38/hg38 10q26.3(chr10:129673966-133613938)x1	copy number loss	See cases [RCV000052614]	Chr10:129673966..133613938 [GRCh38] Chr10:131472230..135427442 [GRCh37] Chr10:131362220..135277432 [NCBI36] Chr10:10q26.3	pathogenic
GRCh38/hg38 10q26.3(chr10:129758596-133620674)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052615]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052615]\|See cases [RCV000052615]	Chr10:129758596..133620674 [GRCh38] Chr10:131556860..135434178 [GRCh37] Chr10:131446850..135284168 [NCBI36] Chr10:10q26.3	pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:123580320-133558988)x1	copy number loss	See cases [RCV000052611]	Chr10:123580320..133558988 [GRCh38] Chr10:125339836..135372492 [GRCh37] Chr10:125329826..135222482 [NCBI36] Chr10:10q26.13-26.3	pathogenic
GRCh38/hg38 10q23.31-26.3(chr10:91048545-133620674)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]\|See cases [RCV000053560]	Chr10:91048545..133620674 [GRCh38] Chr10:92808302..135434178 [GRCh37] Chr10:92798282..135284168 [NCBI36] Chr10:10q23.31-26.3	pathogenic
GRCh38/hg38 10q25.1-26.3(chr10:106925303-133620815)x3	copy number gain	See cases [RCV000053588]	Chr10:106925303..133620815 [GRCh38] Chr10:108685061..135434319 [GRCh37] Chr10:108675051..135284309 [NCBI36] Chr10:10q25.1-26.3	pathogenic
GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3	copy number gain	See cases [RCV000053589]	Chr10:117866565..133554210 [GRCh38] Chr10:119626076..135367714 [GRCh37] Chr10:119616066..135217704 [NCBI36] Chr10:10q26.11-26.3	pathogenic
NM_004092.4(ECHS1):c.2T>G (p.Met1Arg)	single nucleotide variant	Leigh syndrome [RCV000144496]\|Mitochondrial short-chain enoyl-coa hydratase 1 deficiency [RCV000167581]	Chr10:133373332 [GRCh38] Chr10:135186836 [GRCh37] Chr10:10q26.3	pathogenic\|likely pathogenic\|not provided
NM_004092.4(ECHS1):c.5C>T (p.Ala2Val)	single nucleotide variant	Leigh syndrome [RCV000144497]\|Mitochondrial short-chain enoyl-coa hydratase 1 deficiency [RCV000167582]\|not provided [RCV000481050]	Chr10:133373329 [GRCh38] Chr10:135186833 [GRCh37] Chr10:10q26.3	pathogenic\|likely pathogenic\|not provided
GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	copy number gain	See cases [RCV000133688]	Chr10:108102587..133620674 [GRCh38] Chr10:109862345..135434178 [GRCh37] Chr10:109852335..135284168 [NCBI36] Chr10:10q25.1-26.3	pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:125657472-133620674)x1	copy number loss	See cases [RCV000133741]	Chr10:125657472..133620674 [GRCh38] Chr10:127346041..135434178 [GRCh37] Chr10:127336031..135284168 [NCBI36] Chr10:10q26.13-26.3	pathogenic
GRCh38/hg38 10q26.3(chr10:133134279-133400512)x1	copy number loss	See cases [RCV000134391]	Chr10:133134279..133400512 [GRCh38] Chr10:134947783..135214016 [GRCh37] Chr10:134797773..135064006 [NCBI36] Chr10:10q26.3	benign
GRCh38/hg38 10q26.2-26.3(chr10:126730896-133620609)x1	copy number loss	See cases [RCV000134040]	Chr10:126730896..133620609 [GRCh38] Chr10:128419465..135434113 [GRCh37] Chr10:128409455..135284103 [NCBI36] Chr10:10q26.2-26.3	pathogenic
GRCh38/hg38 10q26.3(chr10:132178475-133620674)x1	copy number loss	See cases [RCV000135399]	Chr10:132178475..133620674 [GRCh38] Chr10:133991979..135434178 [GRCh37] Chr10:133841969..135284168 [NCBI36] Chr10:10q26.3	pathogenic
GRCh38/hg38 10q26.3(chr10:129549258-133620674)x1	copy number loss	See cases [RCV000135547]	Chr10:129549258..133620674 [GRCh38] Chr10:131347522..135434178 [GRCh37] Chr10:131237512..135284168 [NCBI36] Chr10:10q26.3	pathogenic\|likely benign
GRCh38/hg38 10q26.13-26.3(chr10:124473108-133620609)x1	copy number loss	See cases [RCV000136028]	Chr10:124473108..133620609 [GRCh38] Chr10:126161677..135434113 [GRCh37] Chr10:126151667..135284103 [NCBI36] Chr10:10q26.13-26.3	pathogenic
GRCh38/hg38 10q26.3(chr10:128872419-133564028)x3	copy number gain	See cases [RCV000136888]	Chr10:128872419..133564028 [GRCh38] Chr10:130670683..135377532 [GRCh37] Chr10:130560673..135227522 [NCBI36] Chr10:10q26.3	pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:124834858-133622588)x1	copy number loss	See cases [RCV000137653]	Chr10:124834858..133622588 [GRCh38] Chr10:126523427..135436092 [GRCh37] Chr10:126513417..135286082 [NCBI36] Chr10:10q26.13-26.3	pathogenic
GRCh38/hg38 10q26.2-26.3(chr10:128549913-133622588)x1	copy number loss	See cases [RCV000138159]	Chr10:128549913..133622588 [GRCh38] Chr10:130348177..135436092 [GRCh37] Chr10:130238167..135286082 [NCBI36] Chr10:10q26.2-26.3	pathogenic\|uncertain significance
GRCh38/hg38 10q26.2-26.3(chr10:127849717-133622588)x1	copy number loss	See cases [RCV000138160]	Chr10:127849717..133622588 [GRCh38] Chr10:129647981..135436092 [GRCh37] Chr10:129537971..135286082 [NCBI36] Chr10:10q26.2-26.3	pathogenic\|likely benign
GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	copy number gain	See cases [RCV000137747]	Chr10:100600492..133622588 [GRCh38] Chr10:102360249..135436092 [GRCh37] Chr10:102350239..135286082 [NCBI36] Chr10:10q24.31-26.3	pathogenic
GRCh38/hg38 10q26.3(chr10:129427520-133622588)x1	copy number loss	See cases [RCV000137959]	Chr10:129427520..133622588 [GRCh38] Chr10:131225784..135436092 [GRCh37] Chr10:131115774..135286082 [NCBI36] Chr10:10q26.3	pathogenic
GRCh38/hg38 10q26.3(chr10:132962729-133622588)x1	copy number loss	See cases [RCV000138257]	Chr10:132962729..133622588 [GRCh38] Chr10:134776233..135436092 [GRCh37] Chr10:134626223..135286082 [NCBI36] Chr10:10q26.3	pathogenic\|uncertain significance
GRCh38/hg38 10q26.13-26.3(chr10:122881207-133620609)x1	copy number loss	See cases [RCV000138435]	Chr10:122881207..133620609 [GRCh38] Chr10:124640723..135434113 [GRCh37] Chr10:124630713..135284103 [NCBI36] Chr10:10q26.13-26.3	pathogenic
GRCh38/hg38 10q26.12-26.3(chr10:120970558-133622588)x1	copy number loss	See cases [RCV000139344]	Chr10:120970558..133622588 [GRCh38] Chr10:122730071..135436092 [GRCh37] Chr10:122720061..135286082 [NCBI36] Chr10:10q26.12-26.3	pathogenic
GRCh38/hg38 10q26.3(chr10:133001075-133622588)x3	copy number gain	See cases [RCV000139912]	Chr10:133001075..133622588 [GRCh38] Chr10:134814579..135436092 [GRCh37] Chr10:134664569..135286082 [NCBI36] Chr10:10q26.3	uncertain significance
GRCh38/hg38 10q26.13-26.3(chr10:125021995-133620609)x1	copy number loss	See cases [RCV000139588]	Chr10:125021995..133620609 [GRCh38] Chr10:126710564..135434113 [GRCh37] Chr10:126700554..135284103 [NCBI36] Chr10:10q26.13-26.3	pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:125452905-133785874)x3	copy number gain	See cases [RCV000141337]	Chr10:125452905..133785874 [GRCh38] Chr10:127141474..135523199 [GRCh37] Chr10:127131464..135373189 [NCBI36] Chr10:10q26.13-26.3	pathogenic
GRCh38/hg38 10q26.2-26.3(chr10:127664168-133622588)x3	copy number gain	See cases [RCV000140974]	Chr10:127664168..133622588 [GRCh38] Chr10:129462432..135436092 [GRCh37] Chr10:129352422..135286082 [NCBI36] Chr10:10q26.2-26.3	likely pathogenic
GRCh38/hg38 10q26.3(chr10:133059029-133622588)x3	copy number gain	See cases [RCV000140708]	Chr10:133059029..133622588 [GRCh38] Chr10:134872533..135436092 [GRCh37] Chr10:134722523..135286082 [NCBI36] Chr10:10q26.3	uncertain significance
GRCh38/hg38 10q26.11-26.3(chr10:119707856-133613639)x3	copy number gain	See cases [RCV000142005]	Chr10:119707856..133613639 [GRCh38] Chr10:121467368..135427143 [GRCh37] Chr10:121457358..135277133 [NCBI36] Chr10:10q26.11-26.3	pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:121588992-133620674)x1	copy number loss	See cases [RCV000142441]	Chr10:121588992..133620674 [GRCh38] Chr10:123348506..135434178 [GRCh37] Chr10:123338496..135284168 [NCBI36] Chr10:10q26.13-26.3	pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:121918547-133620674)x1	copy number loss	See cases [RCV000142737]	Chr10:121918547..133620674 [GRCh38] Chr10:123678062..135434178 [GRCh37] Chr10:123668052..135284168 [NCBI36] Chr10:10q26.13-26.3	pathogenic
GRCh38/hg38 10q26.2-26.3(chr10:127435985-133622588)x1	copy number loss	See cases [RCV000143241]	Chr10:127435985..133622588 [GRCh38] Chr10:129234249..135436092 [GRCh37] Chr10:129124239..135286082 [NCBI36] Chr10:10q26.2-26.3	pathogenic
GRCh38/hg38 10q26.3(chr10:131424682-133613639)x1	copy number loss	See cases [RCV000143762]	Chr10:131424682..133613639 [GRCh38] Chr10:133222945..135427143 [GRCh37] Chr10:133112935..135277133 [NCBI36] Chr10:10q26.3	likely pathogenic
NM_004092.4(ECHS1):c.176A>G (p.Asn59Ser)	single nucleotide variant	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency [RCV000203238]	Chr10:133370670 [GRCh38] Chr10:135184174 [GRCh37] Chr10:10q26.3	pathogenic
NM_004092.4(ECHS1):c.413C>T (p.Ala138Val)	single nucleotide variant	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency [RCV000203246]	Chr10:133369905 [GRCh38] Chr10:135183409 [GRCh37] Chr10:10q26.3	pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:123986772-133613639)x1	copy number loss	See cases [RCV000143623]	Chr10:123986772..133613639 [GRCh38] Chr10:125746288..135427143 [GRCh37] Chr10:125736278..135277133 [NCBI36] Chr10:10q26.13-26.3	pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:123576393-133613639)x1	copy number loss	See cases [RCV000143544]	Chr10:123576393..133613639 [GRCh38] Chr10:125335909..135427143 [GRCh37] Chr10:125325899..135277133 [NCBI36] Chr10:10q26.13-26.3	pathogenic
GRCh38/hg38 10q26.3(chr10:130625650-133613639)x1	copy number loss	See cases [RCV000143554]	Chr10:130625650..133613639 [GRCh38] Chr10:132423914..135427143 [GRCh37] Chr10:132313904..135277133 [NCBI36] Chr10:10q26.3	uncertain significance
GRCh38/hg38 10q26.2-26.3(chr10:126794646-133613639)x1	copy number loss	See cases [RCV000143615]	Chr10:126794646..133613639 [GRCh38] Chr10:128483215..135427143 [GRCh37] Chr10:128473205..135277133 [NCBI36] Chr10:10q26.2-26.3	pathogenic
NM_004092.4(ECHS1):c.473C>A (p.Ala158Asp)	single nucleotide variant	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency [RCV000167579]	Chr10:133368964 [GRCh38] Chr10:135182468 [GRCh37] Chr10:10q26.3	pathogenic\|not provided
NM_004092.4(ECHS1):c.414+3G>C	single nucleotide variant	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency [RCV000167580]	Chr10:133369901 [GRCh38] Chr10:135183405 [GRCh37] Chr10:10q26.3	pathogenic\|not provided
GRCh37/hg19 10q26.13-26.3(chr10:123731209-135353867)x1	copy number loss	See cases [RCV000203440]	Chr10:123731209..135353867 [GRCh37] Chr10:10q26.13-26.3	pathogenic\|likely pathogenic
NM_004092.4(ECHS1):c.541C>T (p.Arg181Cys)	single nucleotide variant	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency [RCV000578160]	Chr10:133366967 [GRCh38] Chr10:135180471 [GRCh37] Chr10:10q26.3	likely pathogenic
NM_004092.4(ECHS1):c.606C>T (p.Asp202=)	single nucleotide variant	not provided [RCV000901397]\|not specified [RCV000600668]	Chr10:133366902 [GRCh38] Chr10:135180406 [GRCh37] Chr10:10q26.3	likely benign
GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3	copy number gain	See cases [RCV000240457]	Chr10:103288313..135512075 [GRCh37] Chr10:10q24.32-26.3	pathogenic
NM_004092.4(ECHS1):c.160C>T (p.Arg54Cys)	single nucleotide variant	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency [RCV000408620]	Chr10:133370686 [GRCh38] Chr10:135184190 [GRCh37] Chr10:10q26.3	likely pathogenic
NM_004092.4(ECHS1):c.268G>A (p.Gly90Arg)	single nucleotide variant	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency [RCV001336115]\|not provided [RCV000489045]	Chr10:133370578 [GRCh38] Chr10:135184082 [GRCh37] Chr10:10q26.3	uncertain significance
NM_004092.4(ECHS1):c.664G>A (p.Ala222Thr)	single nucleotide variant	not provided [RCV000489942]	Chr10:133366051 [GRCh38] Chr10:135179555 [GRCh37] Chr10:10q26.3	likely pathogenic
NM_004092.4(ECHS1):c.739+8A>T	single nucleotide variant	not specified [RCV000604857]	Chr10:133365968 [GRCh38] Chr10:135179472 [GRCh37] Chr10:10q26.3	likely benign
NM_004092.4(ECHS1):c.227T>G (p.Phe76Cys)	single nucleotide variant	Inborn genetic diseases [RCV000622883]	Chr10:133370619 [GRCh38] Chr10:135184123 [GRCh37] Chr10:10q26.3	uncertain significance
NM_004092.4(ECHS1):c.676G>A (p.Ala226Thr)	single nucleotide variant	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency [RCV000578264]	Chr10:133366039 [GRCh38] Chr10:135179543 [GRCh37] Chr10:10q26.3	likely pathogenic
NM_004092.4(ECHS1):c.856_857dup (p.Asn286fs)	duplication	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency [RCV000578337]	Chr10:133362883..133362884 [GRCh38] Chr10:135176387..135176388 [GRCh37] Chr10:10q26.3	pathogenic
NM_004092.4(ECHS1):c.817A>G (p.Lys273Glu)	single nucleotide variant	Inborn genetic diseases [RCV001267048]\|Mitochondrial short-chain enoyl-coa hydratase 1 deficiency [RCV000578423]\|not provided [RCV000414517]	Chr10:133362924 [GRCh38] Chr10:135176428 [GRCh37] Chr10:10q26.3	pathogenic\|likely pathogenic
GRCh37/hg19 10q26.13-26.3(chr10:124147428-135370736)x1	copy number loss	See cases [RCV000449336]	Chr10:124147428..135370736 [GRCh37] Chr10:10q26.13-26.3	pathogenic
GRCh37/hg19 10q24.32-26.3(chr10:104633712-135427143)x3	copy number gain	See cases [RCV000449386]	Chr10:104633712..135427143 [GRCh37] Chr10:10q24.32-26.3	pathogenic
NM_004092.4(ECHS1):c.830C>T (p.Thr277Ile)	single nucleotide variant	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency [RCV000449543]	Chr10:133362911 [GRCh38] Chr10:135176415 [GRCh37] Chr10:10q26.3	likely pathogenic
NC_000010.10:g.(?_135175966)_(135180498_135182426)del	deletion	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency [RCV000449599]	Chr10:133362462..133366994 [GRCh38] Chr10:135175966..135180498 [GRCh37] Chr10:10q26.3	pathogenic
GRCh37/hg19 10q26.12-26.3(chr10:122343861-135427143)x1	copy number loss	See cases [RCV000446095]	Chr10:122343861..135427143 [GRCh37] Chr10:10q26.12-26.3	pathogenic
GRCh37/hg19 10q24.2-26.3(chr10:100780957-135427143)x3	copy number gain	See cases [RCV000446733]	Chr10:100780957..135427143 [GRCh37] Chr10:10q24.2-26.3	pathogenic
GRCh37/hg19 10q26.2-26.3(chr10:128465436-135427143)x1	copy number loss	See cases [RCV000447132]	Chr10:128465436..135427143 [GRCh37] Chr10:10q26.2-26.3	pathogenic
GRCh37/hg19 10q26.3(chr10:132468363-135367666)x1	copy number loss	See cases [RCV000446777]	Chr10:132468363..135367666 [GRCh37] Chr10:10q26.3	pathogenic
NM_004092.4(ECHS1):c.404A>G (p.Asn135Ser)	single nucleotide variant	not provided [RCV000442855]	Chr10:133369914 [GRCh38] Chr10:135183418 [GRCh37] Chr10:10q26.3	likely pathogenic
NM_004092.4(ECHS1):c.489G>A (p.Pro163=)	single nucleotide variant	not provided [RCV000894199]\|not specified [RCV000427574]	Chr10:133368948 [GRCh38] Chr10:135182452 [GRCh37] Chr10:10q26.3	benign\|likely benign
NM_004092.4(ECHS1):c.666C>T (p.Ala222=)	single nucleotide variant	not specified [RCV000420994]	Chr10:133366049 [GRCh38] Chr10:135179553 [GRCh37] Chr10:10q26.3	likely benign
NM_004092.4(ECHS1):c.224C>T (p.Thr75Ile)	single nucleotide variant	not specified [RCV000418408]	Chr10:133370622 [GRCh38] Chr10:135184126 [GRCh37] Chr10:10q26.3	benign
NM_004092.4(ECHS1):c.88+16G>C	single nucleotide variant	not specified [RCV000428240]	Chr10:133373230 [GRCh38] Chr10:135186734 [GRCh37] Chr10:10q26.3	likely benign
NM_004092.4(ECHS1):c.10C>T (p.Leu4=)	single nucleotide variant	not provided [RCV000914373]\|not specified [RCV000435291]	Chr10:133373324 [GRCh38] Chr10:135186828 [GRCh37] Chr10:10q26.3	benign\|likely benign
NM_004092.4(ECHS1):c.228C>T (p.Phe76=)	single nucleotide variant	not specified [RCV000435303]	Chr10:133370618 [GRCh38] Chr10:135184122 [GRCh37] Chr10:10q26.3	benign
NM_004092.4(ECHS1):c.518C>T (p.Ala173Val)	single nucleotide variant	Inborn genetic diseases [RCV001267047]\|Mitochondrial short-chain enoyl-coa hydratase 1 deficiency [RCV000578195]\|not provided [RCV000421257]	Chr10:133366990 [GRCh38] Chr10:135180494 [GRCh37] Chr10:10q26.3	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity
NM_004092.3(ECHS1):c.-22C>T	single nucleotide variant	not specified [RCV000421742]	Chr10:133373355 [GRCh38] Chr10:135186859 [GRCh37] Chr10:10q26.3	likely benign
NM_004092.4(ECHS1):c.582T>C (p.Thr194=)	single nucleotide variant	not specified [RCV000429078]	Chr10:133366926 [GRCh38] Chr10:135180430 [GRCh37] Chr10:10q26.3	benign
NM_004092.4(ECHS1):c.286+8C>T	single nucleotide variant	not specified [RCV000425765]	Chr10:133370552 [GRCh38] Chr10:135184056 [GRCh37] Chr10:10q26.3	benign
NM_004092.4(ECHS1):c.808-17G>A	single nucleotide variant	not specified [RCV000439743]	Chr10:133362950 [GRCh38] Chr10:135176454 [GRCh37] Chr10:10q26.3	likely benign
NM_004092.4(ECHS1):c.7G>A (p.Ala3Thr)	single nucleotide variant	not provided [RCV000429489]	Chr10:133373327 [GRCh38] Chr10:135186831 [GRCh37] Chr10:10q26.3	uncertain significance
NM_004092.4(ECHS1):c.476A>G (p.Gln159Arg)	single nucleotide variant	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency [RCV000578268]\|not provided [RCV000432904]	Chr10:133368961 [GRCh38] Chr10:135182465 [GRCh37] Chr10:10q26.3	pathogenic\|likely pathogenic
NM_004092.4(ECHS1):c.286+6C>T	single nucleotide variant	not specified [RCV000430111]	Chr10:133370554 [GRCh38] Chr10:135184058 [GRCh37] Chr10:10q26.3	likely benign
NM_004092.4(ECHS1):c.240G>A (p.Pro80=)	single nucleotide variant	not provided [RCV000954563]\|not specified [RCV000437227]	Chr10:133370606 [GRCh38] Chr10:135184110 [GRCh37] Chr10:10q26.3	benign\|likely benign
NM_004092.4(ECHS1):c.9C>T (p.Ala3=)	single nucleotide variant	not specified [RCV000430798]	Chr10:133373325 [GRCh38] Chr10:135186829 [GRCh37] Chr10:10q26.3	likely benign
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	copy number gain	See cases [RCV000448750]	Chr10:93297..135378918 [GRCh37] Chr10:10p15.3-q26.3	pathogenic
GRCh37/hg19 10q26.3(chr10:133965613-135427143)x1	copy number loss	See cases [RCV000448088]	Chr10:133965613..135427143 [GRCh37] Chr10:10q26.3	uncertain significance
NM_004092.4(ECHS1):c.410_411del (p.Tyr137fs)	deletion	Inborn genetic diseases [RCV000623926]\|Mitochondrial short-chain enoyl-coa hydratase 1 deficiency [RCV000850548]\|not provided [RCV000487396]	Chr10:133369907..133369908 [GRCh38] Chr10:135183411..135183412 [GRCh37] Chr10:10q26.3	pathogenic\|likely pathogenic
NM_004092.4(ECHS1):c.734A>G (p.Asn245Ser)	single nucleotide variant	not provided [RCV000478872]	Chr10:133365981 [GRCh38] Chr10:135179485 [GRCh37] Chr10:10q26.3	uncertain significance
GRCh37/hg19 10q26.3(chr10:134593406-135427143)x1	copy number loss	See cases [RCV000510608]	Chr10:134593406..135427143 [GRCh37] Chr10:10q26.3	uncertain significance
GRCh37/hg19 10q26.3(chr10:132354150-135427143)x3	copy number gain	See cases [RCV000510589]	Chr10:132354150..135427143 [GRCh37] Chr10:10q26.3	uncertain significance
GRCh37/hg19 10q26.2-26.3(chr10:129825453-135427143)x1	copy number loss	See cases [RCV000511570]	Chr10:129825453..135427143 [GRCh37] Chr10:10q26.2-26.3	likely pathogenic
NM_004092.4(ECHS1):c.88+5G>A	single nucleotide variant	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency [RCV000656340]\|not provided [RCV000494412]	Chr10:133373241 [GRCh38] Chr10:135186745 [GRCh37] Chr10:10q26.3	likely pathogenic\|uncertain significance
GRCh37/hg19 10q26.2-26.3(chr10:127658004-135427143)x1	copy number loss	See cases [RCV000511813]	Chr10:127658004..135427143 [GRCh37] Chr10:10q26.2-26.3	pathogenic
NM_004092.4(ECHS1):c.488C>T (p.Pro163Leu)	single nucleotide variant	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency [RCV000578462]	Chr10:133368949 [GRCh38] Chr10:135182453 [GRCh37] Chr10:10q26.3	likely pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	copy number gain	See cases [RCV000511389]	Chr10:100027..135427143 [GRCh37] Chr10:10p15.3-q26.3	pathogenic\|uncertain significance
GRCh37/hg19 10q26.3(chr10:134624870-135427143)x1	copy number loss	See cases [RCV000511601]	Chr10:134624870..135427143 [GRCh37] Chr10:10q26.3	likely pathogenic
NM_004092.4(ECHS1):c.327G>T (p.Gln109His)	single nucleotide variant	not provided [RCV000493212]	Chr10:133369991 [GRCh38] Chr10:135183495 [GRCh37] Chr10:10q26.3	likely pathogenic
GRCh37/hg19 10q25.1-26.3(chr10:106003533-135427143)x3	copy number gain	See cases [RCV000510813]	Chr10:106003533..135427143 [GRCh37] Chr10:10q25.1-26.3	pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	copy number gain	See cases [RCV000510861]	Chr10:100027..135427143 [GRCh37] Chr10:10p15.3-q26.3	pathogenic
GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	copy number gain	See cases [RCV000510972]	Chr10:93283493..135427143 [GRCh37] Chr10:10q23.32-26.3	pathogenic
NM_004092.4(ECHS1):c.825G>A (p.Gly275=)	single nucleotide variant	not provided [RCV001200077]\|not specified [RCV000603639]	Chr10:133362916 [GRCh38] Chr10:135176420 [GRCh37] Chr10:10q26.3	likely benign
NM_004092.4(ECHS1):c.394G>A (p.Ala132Thr)	single nucleotide variant	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency [RCV000578357]	Chr10:133369924 [GRCh38] Chr10:135183428 [GRCh37] Chr10:10q26.3	pathogenic
NM_004092.4(ECHS1):c.74G>C (p.Arg25Pro)	single nucleotide variant	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency [RCV000578468]	Chr10:133373260 [GRCh38] Chr10:135186764 [GRCh37] Chr10:10q26.3	pathogenic
NM_004092.4(ECHS1):c.519G>A (p.Ala173=)	single nucleotide variant	not provided [RCV000907475]\|not specified [RCV000608005]	Chr10:133366989 [GRCh38] Chr10:135180493 [GRCh37] Chr10:10q26.3	likely benign
NM_004092.4(ECHS1):c.420C>T (p.Gly140=)	single nucleotide variant	not specified [RCV000610282]	Chr10:133369017 [GRCh38] Chr10:135182521 [GRCh37] Chr10:10q26.3	likely benign
GRCh37/hg19 10q26.2-26.3(chr10:129007673-135427143)x3	copy number gain	See cases [RCV000512398]	Chr10:129007673..135427143 [GRCh37] Chr10:10q26.2-26.3	pathogenic
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	copy number loss	PARP Inhibitor response [RCV000626438]	Chr10:42347406..135534747 [GRCh37] Chr10:10q11.21-26.3	drug response
NM_004092.4(ECHS1):c.-21G>C	single nucleotide variant	not specified [RCV000604316]	Chr10:133373354 [GRCh38] Chr10:135186858 [GRCh37] Chr10:10q26.3	likely benign
GRCh37/hg19 10q26.3(chr10:134615768-135184126)x3	copy number gain	See cases [RCV000512163]	Chr10:134615768..135184126 [GRCh37] Chr10:10q26.3	likely benign
GRCh37/hg19 10q26.13-26.3(chr10:127375792-135427143)x1	copy number loss	not provided [RCV000683283]	Chr10:127375792..135427143 [GRCh37] Chr10:10q26.13-26.3	pathogenic
GRCh37/hg19 10q26.3(chr10:133574560-135296619)x4	copy number gain	not provided [RCV000683265]	Chr10:133574560..135296619 [GRCh37] Chr10:10q26.3	uncertain significance
GRCh37/hg19 10q26.13-26.3(chr10:125450893-135427143)x1	copy number loss	not provided [RCV000683285]	Chr10:125450893..135427143 [GRCh37] Chr10:10q26.13-26.3	pathogenic
GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3	copy number gain	not provided [RCV000683290]	Chr10:105613040..135427143 [GRCh37] Chr10:10q24.33-26.3	pathogenic
GRCh37/hg19 10q26.12-26.3(chr10:123019239-135427143)x1	copy number loss	not provided [RCV000683286]	Chr10:123019239..135427143 [GRCh37] Chr10:10q26.12-26.3	pathogenic
GRCh37/hg19 10q26.3(chr10:131949020-135427143)x1	copy number loss	not provided [RCV000683274]	Chr10:131949020..135427143 [GRCh37] Chr10:10q26.3	pathogenic
GRCh37/hg19 10q26.12-26.3(chr10:122509781-135427143)x1	copy number loss	not provided [RCV000683287]	Chr10:122509781..135427143 [GRCh37] Chr10:10q26.12-26.3	pathogenic
GRCh37/hg19 10q26.11-26.3(chr10:121269222-135427143)x3	copy number gain	not provided [RCV000683288]	Chr10:121269222..135427143 [GRCh37] Chr10:10q26.11-26.3	pathogenic
GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	copy number gain	not provided [RCV000683291]	Chr10:94346520..135427143 [GRCh37] Chr10:10q23.33-26.3	pathogenic
GRCh37/hg19 10q26.12-26.3(chr10:122443197-135477883)x1	copy number loss	not provided [RCV000737305]	Chr10:122443197..135477883 [GRCh37] Chr10:10q26.12-26.3	pathogenic
GRCh37/hg19 10q26.2-26.3(chr10:129454892-135447971)x1	copy number loss	not provided [RCV000737323]	Chr10:129454892..135447971 [GRCh37] Chr10:10q26.2-26.3	pathogenic
GRCh37/hg19 10q26.3(chr10:134589631-135244723)x1	copy number loss	not provided [RCV000737342]	Chr10:134589631..135244723 [GRCh37] Chr10:10q26.3	benign
GRCh37/hg19 10q26.3(chr10:134777671-135434303)x1	copy number loss	not provided [RCV000749862]	Chr10:134777671..135434303 [GRCh37] Chr10:10q26.3	benign
GRCh37/hg19 10q26.3(chr10:134889866-135379710)x3	copy number gain	not provided [RCV000749866]	Chr10:134889866..135379710 [GRCh37] Chr10:10q26.3	benign
GRCh37/hg19 10q26.3(chr10:135012384-135278193)x3	copy number gain	not provided [RCV000749873]	Chr10:135012384..135278193 [GRCh37] Chr10:10q26.3	benign
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3	copy number gain	not provided [RCV000749464]	Chr10:73232..135524321 [GRCh37] Chr10:10p15.3-q26.3	pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3	copy number gain	not provided [RCV000749465]	Chr10:98087..135477883 [GRCh37] Chr10:10p15.3-q26.3	pathogenic
NM_004092.4(ECHS1):c.740C>T (p.Ala247Val)	single nucleotide variant	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency [RCV000988460]	Chr10:133364725 [GRCh38] Chr10:135178229 [GRCh37] Chr10:10q26.3	likely pathogenic
NM_004092.4(ECHS1):c.637T>C (p.Cys213Arg)	single nucleotide variant	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency [RCV000988461]	Chr10:133366078 [GRCh38] Chr10:135179582 [GRCh37] Chr10:10q26.3	likely pathogenic
NM_004092.4(ECHS1):c.583G>A (p.Gly195Ser)	single nucleotide variant	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency [RCV000988462]	Chr10:133366925 [GRCh38] Chr10:135180429 [GRCh37] Chr10:10q26.3	pathogenic
NM_004092.4(ECHS1):c.161G>A (p.Arg54His)	single nucleotide variant	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency [RCV000988463]	Chr10:133370685 [GRCh38] Chr10:135184189 [GRCh37] Chr10:10q26.3	pathogenic
NM_004092.4(ECHS1):c.89-10C>T	single nucleotide variant	not provided [RCV000949341]	Chr10:133370767 [GRCh38] Chr10:135184271 [GRCh37] Chr10:10q26.3	likely benign
NM_004092.4(ECHS1):c.6C>G (p.Ala2=)	single nucleotide variant	not provided [RCV000982770]	Chr10:133373328 [GRCh38] Chr10:135186832 [GRCh37] Chr10:10q26.3	likely benign
NM_004092.4(ECHS1):c.564G>A (p.Ala188=)	single nucleotide variant	not provided [RCV000900955]	Chr10:133366944 [GRCh38] Chr10:135180448 [GRCh37] Chr10:10q26.3	likely benign
NM_004092.4(ECHS1):c.345G>A (p.Lys115=)	single nucleotide variant	not provided [RCV000901819]	Chr10:133369973 [GRCh38] Chr10:135183477 [GRCh37] Chr10:10q26.3	likely benign
NM_004092.4(ECHS1):c.89-6C>T	single nucleotide variant	not provided [RCV000950195]	Chr10:133370763 [GRCh38] Chr10:135184267 [GRCh37] Chr10:10q26.3	likely benign
GRCh37/hg19 10q26.2-26.3(chr10:129009772-135427143)x1	copy number loss	not provided [RCV001006362]	Chr10:129009772..135427143 [GRCh37] Chr10:10q26.2-26.3	pathogenic
GRCh37/hg19 10q26.2-26.3(chr10:129381095-135427143)x1	copy number loss	not provided [RCV001006364]	Chr10:129381095..135427143 [GRCh37] Chr10:10q26.2-26.3	pathogenic
GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095)	copy number gain	not provided [RCV000767665]	Chr10:110022170..135439095 [GRCh37] Chr10:10q25.1-26.3	pathogenic
NM_004092.4(ECHS1):c.514+147G>A	single nucleotide variant	not provided [RCV000835737]	Chr10:133368776 [GRCh38] Chr10:135182280 [GRCh37] Chr10:10q26.3	benign
NM_004092.4(ECHS1):c.514+251G>A	single nucleotide variant	not provided [RCV000832332]	Chr10:133368672 [GRCh38] Chr10:135182176 [GRCh37] Chr10:10q26.3	likely benign
NM_004092.4(ECHS1):c.515-279C>T	single nucleotide variant	not provided [RCV000832392]	Chr10:133367272 [GRCh38] Chr10:135180776 [GRCh37] Chr10:10q26.3	benign
NM_004092.4(ECHS1):c.619+176T>C	single nucleotide variant	not provided [RCV000832425]	Chr10:133366713 [GRCh38] Chr10:135180217 [GRCh37] Chr10:10q26.3	benign
NM_004092.4(ECHS1):c.739+264A>C	single nucleotide variant	not provided [RCV000832426]	Chr10:133365712 [GRCh38] Chr10:135179216 [GRCh37] Chr10:10q26.3	benign
NM_004092.4(ECHS1):c.740-230G>C	single nucleotide variant	not provided [RCV000832427]	Chr10:133364955 [GRCh38] Chr10:135178459 [GRCh37] Chr10:10q26.3	benign
NM_004092.4(ECHS1):c.515-65A>G	single nucleotide variant	not provided [RCV000836191]	Chr10:133367058 [GRCh38] Chr10:135180562 [GRCh37] Chr10:10q26.3	benign
NM_004092.4(ECHS1):c.619+111G>A	single nucleotide variant	not provided [RCV000836192]	Chr10:133366778 [GRCh38] Chr10:135180282 [GRCh37] Chr10:10q26.3	benign
NM_004092.4(ECHS1):c.286+262A>G	single nucleotide variant	not provided [RCV000843942]	Chr10:133370298 [GRCh38] Chr10:135183802 [GRCh37] Chr10:10q26.3	benign
GRCh37/hg19 10q26.3(chr10:135079677-135427143)x4	copy number gain	not provided [RCV000848040]	Chr10:135079677..135427143 [GRCh37] Chr10:10q26.3	uncertain significance
GRCh37/hg19 10q26.13-26.3(chr10:124988334-135427143)x3	copy number gain	not provided [RCV000848791]	Chr10:124988334..135427143 [GRCh37] Chr10:10q26.13-26.3	pathogenic
NM_004092.4(ECHS1):c.619+116A>G	single nucleotide variant	not provided [RCV000836193]	Chr10:133366773 [GRCh38] Chr10:135180277 [GRCh37] Chr10:10q26.3	benign
NM_004092.4(ECHS1):c.619+136A>G	single nucleotide variant	not provided [RCV000836194]	Chr10:133366753 [GRCh38] Chr10:135180257 [GRCh37] Chr10:10q26.3	benign
NM_004092.4(ECHS1):c.538A>G (p.Thr180Ala)	single nucleotide variant	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency [RCV000851532]	Chr10:133366970 [GRCh38] Chr10:135180474 [GRCh37] Chr10:10q26.3	pathogenic\|likely pathogenic
NM_004092.4(ECHS1):c.415-211T>C	single nucleotide variant	not provided [RCV000828560]	Chr10:133369233 [GRCh38] Chr10:135182737 [GRCh37] Chr10:10q26.3	benign
NM_004092.4(ECHS1):c.89-294A>C	single nucleotide variant	not provided [RCV000843938]	Chr10:133371051 [GRCh38] Chr10:135184555 [GRCh37] Chr10:10q26.3	benign
NM_004092.4(ECHS1):c.89-160G>C	single nucleotide variant	not provided [RCV000843939]	Chr10:133370917 [GRCh38] Chr10:135184421 [GRCh37] Chr10:10q26.3	benign
NM_004092.4(ECHS1):c.287-174C>A	single nucleotide variant	not provided [RCV000843943]	Chr10:133370205 [GRCh38] Chr10:135183709 [GRCh37] Chr10:10q26.3	benign
NM_004092.4(ECHS1):c.414+314G>T	single nucleotide variant	not provided [RCV000843944]	Chr10:133369590 [GRCh38] Chr10:135183094 [GRCh37] Chr10:10q26.3	benign
NM_004092.4(ECHS1):c.620-178G>A	single nucleotide variant	not provided [RCV000843948]	Chr10:133366273 [GRCh38] Chr10:135179777 [GRCh37] Chr10:10q26.3	benign
NM_004092.4(ECHS1):c.619+208T>C	single nucleotide variant	not provided [RCV000831807]	Chr10:133366681 [GRCh38] Chr10:135180185 [GRCh37] Chr10:10q26.3	likely benign
NM_004092.4(ECHS1):c.620-289G>A	single nucleotide variant	not provided [RCV000831808]	Chr10:133366384 [GRCh38] Chr10:135179888 [GRCh37] Chr10:10q26.3	likely benign
GRCh37/hg19 10q25.2-26.3(chr10:114544537-135427143)x3	copy number gain	not provided [RCV000847820]	Chr10:114544537..135427143 [GRCh37] Chr10:10q25.2-26.3	pathogenic
GRCh37/hg19 10q26.3(chr10:135111843-135427143)x1	copy number loss	not provided [RCV000848506]	Chr10:135111843..135427143 [GRCh37] Chr10:10q26.3	uncertain significance
NM_004092.4(ECHS1):c.121_122AG[1] (p.Gly42fs)	microsatellite	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency [RCV000988464]	Chr10:133370722..133370723 [GRCh38] Chr10:135184226..135184227 [GRCh37] Chr10:10q26.3	pathogenic
NM_004092.4(ECHS1):c.1A>T (p.Met1Leu)	single nucleotide variant	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency [RCV000988465]	Chr10:133373333 [GRCh38] Chr10:135186837 [GRCh37] Chr10:10q26.3	likely pathogenic
NM_004092.4(ECHS1):c.268G>C (p.Gly90Arg)	single nucleotide variant	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency [RCV000850549]	Chr10:133370578 [GRCh38] Chr10:135184082 [GRCh37] Chr10:10q26.3	uncertain significance
GRCh37/hg19 10q26.11-26.3(chr10:119996339-135427143)x3	copy number gain	not provided [RCV001006356]	Chr10:119996339..135427143 [GRCh37] Chr10:10q26.11-26.3	pathogenic
NM_004092.4(ECHS1):c.229G>C (p.Glu77Gln)	single nucleotide variant	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency [RCV001248823]	Chr10:133370617 [GRCh38] Chr10:135184121 [GRCh37] Chr10:10q26.3	pathogenic
NM_004092.4(ECHS1):c.847A>G (p.Arg283Gly)	single nucleotide variant	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency [RCV000853272]	Chr10:133362894 [GRCh38] Chr10:135176398 [GRCh37] Chr10:10q26.3	likely pathogenic
NM_004092.4(ECHS1):c.8C>T (p.Ala3Val)	single nucleotide variant	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency [RCV000853273]	Chr10:133373326 [GRCh38] Chr10:135186830 [GRCh37] Chr10:10q26.3	likely pathogenic
GRCh37/hg19 10q26.3(chr10:135158728-135427143)x1	copy number loss	not provided [RCV000847103]	Chr10:135158728..135427143 [GRCh37] Chr10:10q26.3	uncertain significance
NM_004092.4(ECHS1):c.89-7G>T	single nucleotide variant	not provided [RCV000949340]	Chr10:133370764 [GRCh38] Chr10:135184268 [GRCh37] Chr10:10q26.3	likely benign
NM_004092.4(ECHS1):c.713C>T (p.Ala238Val)	single nucleotide variant	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency [RCV001248826]	Chr10:133366002 [GRCh38] Chr10:135179506 [GRCh37] Chr10:10q26.3	pathogenic
NM_004092.4(ECHS1):c.88+8C>T	single nucleotide variant	not provided [RCV000934099]	Chr10:133373238 [GRCh38] Chr10:135186742 [GRCh37] Chr10:10q26.3	likely benign
NM_004092.4(ECHS1):c.796A>G (p.Thr266Ala)	single nucleotide variant	Inborn genetic diseases [RCV001265901]\|Mitochondrial short-chain enoyl-coa hydratase 1 deficiency [RCV000988459]	Chr10:133364669 [GRCh38] Chr10:135178173 [GRCh37] Chr10:10q26.3	likely pathogenic\|uncertain significance
NM_004092.4(ECHS1):c.414+1G>A	single nucleotide variant	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency [RCV001089955]	Chr10:133369903 [GRCh38] Chr10:135183407 [GRCh37] Chr10:10q26.3	likely pathogenic
NM_004092.4(ECHS1):c.444G>T (p.Met148Ile)	single nucleotide variant	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency [RCV001250099]	Chr10:133368993 [GRCh38] Chr10:135182497 [GRCh37] Chr10:10q26.3	uncertain significance
GRCh37/hg19 10q26.3(chr10:135165733-135427143)x3	copy number gain	not provided [RCV001259088]	Chr10:135165733..135427143 [GRCh37] Chr10:10q26.3	likely benign
NM_004092.4(ECHS1):c.467A>G (p.Glu156Gly)	single nucleotide variant	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency [RCV001260247]	Chr10:133368970 [GRCh38] Chr10:135182474 [GRCh37] Chr10:10q26.3	pathogenic
GRCh37/hg19 10q26.2-26.3(chr10:129031265-135427143)x1	copy number loss	not provided [RCV001259085]	Chr10:129031265..135427143 [GRCh37] Chr10:10q26.2-26.3	pathogenic
NM_004092.4(ECHS1):c.688G>A (p.Ala230Thr)	single nucleotide variant	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency [RCV001267693]	Chr10:133366027 [GRCh38] Chr10:135179531 [GRCh37] Chr10:10q26.3	uncertain significance
NM_004092.4(ECHS1):c.72G>A (p.Trp24Ter)	single nucleotide variant	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency [RCV001267694]	Chr10:133373262 [GRCh38] Chr10:135186766 [GRCh37] Chr10:10q26.3	uncertain significance
NM_004092.4(ECHS1):c.589C>G (p.Arg197Gly)	single nucleotide variant	Inborn genetic diseases [RCV001265900]	Chr10:133366919 [GRCh38] Chr10:135180423 [GRCh37] Chr10:10q26.3	uncertain significance
NM_004092.4(ECHS1):c.833C>T (p.Ala278Val)	single nucleotide variant	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency [RCV001336116]	Chr10:133362908 [GRCh38] Chr10:135176412 [GRCh37] Chr10:10q26.3	uncertain significance
GRCh37/hg19 10q26.2-26.3(chr10:129483682-135434178)	copy number loss	Global developmental delay [RCV001352664]	Chr10:129483682..135434178 [GRCh37] Chr10:10q26.2-26.3	pathogenic

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:3151	AgrOrtholog
COSMIC	ECHS1	COSMIC
Ensembl Genes	ENSG00000127884	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein	ENSP00000357535	ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000368547	ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH	1.10.12.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000127884	GTEx
HGNC ID	HGNC:3151	ENTREZGENE
Human Proteome Map	ECHS1	Human Proteome Map
InterPro	ClpP/crotonase-like_dom_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Enoyl-CoA_hyd/isom_CS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Enoyl-CoA_hydra/iso	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Enoyl-CoA_hydra_C	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:1892	UniProtKB/Swiss-Prot
NCBI Gene	1892	ENTREZGENE
OMIM	602292	OMIM
	616277	OMIM
Pfam	ECH_1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA27597	PharmGKB
PROSITE	ENOYL_COA_HYDRATASE	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF52096	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A384MDW7_HUMAN	UniProtKB/TrEMBL
	ECHM_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary	O00739	UniProtKB/Swiss-Prot
	Q5VWY1	UniProtKB/Swiss-Prot
	Q96H54	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-07-05	ECHS1	enoyl-CoA hydratase, short chain 1		enoyl-CoA hydratase, short chain, 1, mitochondrial	Symbol and/or name change	5135510	APPROVED
2015-11-17	ECHS1	enoyl-CoA hydratase, short chain, 1, mitochondrial		enoyl CoA hydratase, short chain, 1, mitochondrial	Symbol and/or name change	5135510	APPROVED
2011-08-17	ECHS1	enoyl CoA hydratase, short chain, 1, mitochondrial	ECHS1	enoyl CoA hydratase, short chain, 1, mitochondrial	Symbol and/or name change	5135510	APPROVED
2011-07-27	ECHS1	enoyl CoA hydratase, short chain, 1, mitochondrial	ECHS1	enoyl Coenzyme A hydratase, short chain, 1, mitochondrial	Symbol and/or name change	5135510	APPROVED

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