ECHS1 (enoyl-CoA hydratase, short chain 1) - Rat Genome Database

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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 AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl10133,362,485 - 133,373,354 (-)EnsemblGRCh38hg38GRCh38
GRCh3810133,362,480 - 133,373,396 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh3710135,175,989 - 135,186,858 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3610135,025,980 - 135,036,898 (-)NCBINCBI36hg18NCBI36
Build 3410135,064,870 - 135,075,789NCBI
Celera10128,330,716 - 128,341,541 (+)NCBI
Cytogenetic Map10q26.3NCBI
HuRef10128,720,102 - 128,735,596 (-)NCBIHuRef
CHM1_110135,457,879 - 135,468,770 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Cellular Component
mitochondrial matrix  (TAS)
mitochondrion  (IBA,IDA,ISO,TAS)

Molecular Function

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)

References

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 AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl10133,362,485 - 133,373,354 (-)EnsemblGRCh38hg38GRCh38
GRCh3810133,362,480 - 133,373,396 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh3710135,175,989 - 135,186,858 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3610135,025,980 - 135,036,898 (-)NCBINCBI36hg18NCBI36
Build 3410135,064,870 - 135,075,789NCBI
Celera10128,330,716 - 128,341,541 (+)NCBI
Cytogenetic Map10q26.3NCBI
HuRef10128,720,102 - 128,735,596 (-)NCBIHuRef
CHM1_110135,457,879 - 135,468,770 (-)NCBICHM1_1
Echs1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397139,685,623 - 139,696,334 (-)NCBIGRCm39mm39
GRCm39 Ensembl7139,685,623 - 139,696,389 (-)Ensembl
GRCm387140,105,710 - 140,116,421 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7140,105,710 - 140,116,476 (-)EnsemblGRCm38mm10GRCm38
MGSCv377147,291,622 - 147,302,322 (-)NCBIGRCm37mm9NCBIm37
MGSCv367139,957,043 - 139,967,743 (-)NCBImm8
Celera7139,903,786 - 139,914,486 (-)NCBICelera
Cytogenetic Map7F4NCBI
Echs1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21194,895,036 - 194,903,863 (-)NCBI
Rnor_6.0 Ensembl1212,570,195 - 212,579,057 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0 Ensembl1141,821,916 - 141,830,764 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01212,570,213 - 212,579,040 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01219,484,862 - 219,493,689 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41199,901,585 - 199,910,412 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11200,051,577 - 200,060,404 (-)NCBI
Celera1192,572,098 - 192,580,925 (-)NCBICelera
Cytogenetic Map1q41NCBI
Echs1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495547711,012,451 - 11,021,486 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495547711,012,451 - 11,021,487 (-)NCBIChiLan1.0ChiLan1.0
ECHS1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.110134,278,388 - 134,289,308 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl10134,278,388 - 134,289,308 (-)Ensemblpanpan1.1panPan2
ECHS1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12840,939,856 - 40,947,694 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2840,939,961 - 40,946,167 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2840,994,970 - 41,002,785 (-)NCBI
ROS_Cfam_1.02841,574,846 - 41,582,544 (-)NCBI
UMICH_Zoey_3.12841,058,933 - 41,067,149 (-)NCBI
UNSW_CanFamBas_1.02841,048,529 - 41,056,202 (-)NCBI
UU_Cfam_GSD_1.02841,451,431 - 41,459,252 (-)NCBI
Echs1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244072136,064,697 - 6,072,679 (+)NCBI
SpeTri2.0NW_00493648619,488,619 - 19,496,583 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ECHS1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl14141,335,990 - 141,349,030 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.114141,340,320 - 141,348,870 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
ECHS1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12653,212,299 - 53,222,805 (-)NCBI
Echs1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473713,329,052 - 13,338,358 (+)NCBI

Position Markers
D10S1700  
Human AssemblyChrPosition (strand)SourceJBrowse
Celera10128,340,626 - 128,340,753RGD
Cytogenetic Map10q26.2-q26.3UniSTS
HuRef10128,720,890 - 128,721,019UniSTS
Marshfield Genetic Map10172.26RGD
Marshfield Genetic Map10172.26UniSTS
Genethon Genetic Map10181.7UniSTS
D10S2290  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710135,176,016 - 135,176,351UniSTSGRCh37
Build 3610135,026,006 - 135,026,341RGDNCBI36
Celera10128,341,177 - 128,341,512RGD
Cytogenetic Map10q26.2-q26.3UniSTS
HuRef10128,720,131 - 128,720,466UniSTS
Stanford-G3 RH Map106267.0UniSTS
NCBI RH Map101398.7UniSTS
GeneMap99-G3 RH Map106503.0UniSTS
RH67939  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710135,176,102 - 135,176,211UniSTSGRCh37
Build 3610135,026,092 - 135,026,201RGDNCBI36
Celera10128,341,317 - 128,341,426RGD
Cytogenetic Map10q26.2-q26.3UniSTS
HuRef10128,720,217 - 128,720,326UniSTS
GeneMap99-GB4 RH Map10561.05UniSTS
NCBI RH Map101382.8UniSTS
G54149  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710135,176,034 - 135,176,185UniSTSGRCh37
Build 3610135,026,024 - 135,026,175RGDNCBI36
Celera10128,341,343 - 128,341,494RGD
Cytogenetic Map10q26.2-q26.3UniSTS
HuRef10128,720,149 - 128,720,300UniSTS
G60572  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710135,176,694 - 135,176,976UniSTSGRCh37
Build 3610135,026,684 - 135,026,966RGDNCBI36
Celera10128,340,546 - 128,340,834RGD
Cytogenetic Map10q26.2-q26.3UniSTS
HuRef10128,720,809 - 128,721,099UniSTS
D10S1291E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710135,176,042 - 135,176,217UniSTSGRCh37
Build 3610135,026,032 - 135,026,207RGDNCBI36
Celera10128,341,311 - 128,341,486RGD
Cytogenetic Map10q26.2-q26.3UniSTS
HuRef10128,720,157 - 128,720,332UniSTS

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 52 52 52 22 25 1
Medium 2432 2891 1671 570 1865 412 4355 2181 3708 396 1423 1608 171 1203 2788 4
Low 93 83 12
Below cutoff

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 AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl10133,362,485 - 133,373,354 (-)Ensembl
RefSeq Acc Id: NM_004092   ⟹   NP_004083
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810133,362,485 - 133,373,354 (-)NCBI
GRCh3710135,175,987 - 135,186,908 (-)ENTREZGENE
Build 3610135,025,980 - 135,036,898 (-)NCBI Archive
HuRef10128,720,102 - 128,735,596 (-)ENTREZGENE
CHM1_110135,457,879 - 135,468,770 (-)NCBI
Sequence:
RefSeq Acc Id: XR_002956965
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810133,362,480 - 133,373,396 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_004083   ⟸   NM_004092
- UniProtKB: P30084 (UniProtKB/Swiss-Prot)
- 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 AssemblyChrPosition (strand)Source
GRCh3810133,373,341 - 133,373,401EPDNEW
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 AssemblyChrPosition (strand)Source
GRCh3810133,373,730 - 133,373,790EPDNEW
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 AssemblyChrPosition (strand)Source
Build 3610135,036,746 - 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 AssemblyChrPosition (strand)Source
Build 3610135,036,836 - 135,036,896EPD

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

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