HADHA (hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha) - Rat Genome Database

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Gene: HADHA (hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha) Homo sapiens
Analyze
Symbol: HADHA
Name: hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
RGD ID: 733877
HGNC Page HGNC
Description: Predicted to enable enoyl-CoA hydratase activity and long-chain-3-hydroxyacyl-CoA dehydrogenase activity. Involved in cardiolipin acyl-chain remodeling. Located in mitochondrial nucleoid. Implicated in fatty liver disease and mitochondrial trifunctional protein deficiency. Biomarker of Alzheimer's disease.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 3-ketoacyl-Coenzyme A (CoA) thiolase, alpha subunit; 3-oxoacyl-CoA thiolase; 78 kDa gastrin-binding protein; ECHA; gastrin-binding protein; GBP; HADH; hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit; hydroxyacyl-coenzyme a dehydrogenase/3-ketoacyl-coenzyme a hiolase/enoyl-coenzyme a hydratase (trifunctional protein), alpha subunit; hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit; LCEH; LCHAD; long-chain 2-enoyl-CoA hydratase; long-chain-3-hydroxyacyl-CoA dehydrogenase; MGC1728; mitochondrial long-chain 2-enoyl-Coenzyme A (CoA) hydratase, alpha subunit; mitochondrial long-chain L-3-hydroxyacyl-Coenzyme A (CoA) dehydrogenase, alpha subunit; mitochondrial trifunctional enzyme, alpha subunit; mitochondrial trifunctional protein, alpha subunit; monolysocardiolipin acyltransferase; MTPA; TP-ALPHA; trifunctional enzyme subunit alpha, mitochondrial
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: HADHAP1   HADHAP2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl226,190,635 - 26,244,672 (-)EnsemblGRCh38hg38GRCh38
GRCh38226,190,635 - 26,244,632 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37226,413,504 - 26,467,500 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36226,267,008 - 26,321,098 (-)NCBINCBI36hg18NCBI36
Build 34226,325,159 - 26,379,140NCBI
Celera226,253,733 - 26,307,825 (-)NCBI
Cytogenetic Map2p23.3NCBI
HuRef226,149,287 - 26,203,382 (-)NCBIHuRef
CHM1_1226,343,424 - 26,397,498 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-dexrazoxane  (ISO)
(+)-schisandrin B  (ISO)
(R)-carnitine  (EXP)
1,2-dimethylhydrazine  (ISO)
1,4-benzoquinone  (EXP)
1-chloro-2,4-dinitrobenzene  (EXP)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-trinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-acetamidofluorene  (ISO)
2-amino-14,16-dimethyloctadecan-3-ol  (EXP)
3,3',4,4'-tetrachlorobiphenyl  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-(4-chlorophenyl)imidazo[2,1-b][1,3]thiazole-5-carbaldehyde O-(3,4-dichlorobenzyl)oxime  (EXP)
7,9-dihydro-1H-purine-2,6,8(3H)-trione  (ISO)
acetamide  (ISO)
acrolein  (EXP)
aflatoxin B1  (EXP,ISO)
allopurinol  (ISO)
alpha-pinene  (EXP)
ammonium chloride  (ISO)
aspartame  (ISO)
atrazine  (EXP)
bathocuproine disulfonic acid  (EXP)
benzo[a]pyrene  (EXP)
bezafibrate  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
bleomycin A2  (ISO)
bortezomib  (EXP)
Brodifacoum  (ISO)
ciglitazone  (EXP)
ciguatoxin CTX1B  (ISO)
clofibrate  (ISO)
Clofop  (EXP)
cyclosporin A  (EXP,ISO)
cyproconazole  (ISO)
decabromodiphenyl ether  (ISO)
dexamethasone  (ISO)
dibutyl phthalate  (ISO)
diethyldithiocarbamic acid  (ISO)
disodium selenite  (EXP)
doxorubicin  (ISO)
elemental selenium  (EXP)
enzyme inhibitor  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
farnesol  (EXP)
fenofibrate  (EXP,ISO)
fenvalerate  (ISO)
fipronil  (ISO)
flavonoids  (ISO)
flutamide  (ISO)
folic acid  (ISO)
furan  (ISO)
glutathione  (ISO)
GW 4064  (EXP)
GW 501516  (EXP)
GW 7647  (EXP)
ionomycin  (EXP)
ivermectin  (EXP)
L-ascorbic acid  (ISO)
lamivudine  (ISO)
lead(0)  (EXP)
lead(2+)  (EXP)
leflunomide  (ISO)
linsidomine  (ISO)
methapyrilene  (ISO)
methotrexate  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
monosodium L-glutamate  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosomorpholine  (ISO)
nefazodone  (ISO)
oleic acid  (EXP)
oxybenzone  (ISO)
ozone  (EXP)
perflubutane  (EXP)
perfluorobutanesulfonic acid  (ISO)
perfluorobutyric acid  (ISO)
perfluorodecanoic acid  (EXP)
perfluorododecanoic acid  (EXP,ISO)
perfluoroheptanoic acid  (EXP)
perfluorohexanesulfonic acid  (EXP,ISO)
perfluorohexanoic acid  (EXP,ISO)
perfluorononanoic acid  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (EXP,ISO)
perfluoroundecanoic acid  (EXP,ISO)
phenobarbital  (ISO)
phorbol 13-acetate 12-myristate  (EXP)
pirinixic acid  (ISO)
pravastatin  (ISO)
pyrrolidine dithiocarbamate  (EXP)
rotenone  (ISO)
sarin  (EXP)
SB 431542  (EXP)
selenium atom  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (ISO)
Tesaglitazar  (ISO)
testosterone enanthate  (EXP)
tetrachloromethane  (ISO)
tetracycline  (ISO)
thapsigargin  (ISO)
thimerosal  (EXP)
titanium dioxide  (ISO)
tributylstannane  (ISO)
triptonide  (ISO)
troglitazone  (ISO)
valproic acid  (EXP)
vitamin E  (EXP)
zaragozic acid A  (ISO)
zidovudine  (ISO)
zinc atom  (ISO)
zinc(0)  (ISO)
zoledronic acid  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal electroretinogram  (IAGP)
Abnormality of retinal pigmentation  (IAGP)
Abnormality of the amniotic fluid  (IAGP)
Areflexia  (IAGP)
Arrhythmia  (IAGP)
Autosomal recessive inheritance  (IAGP)
Babinski sign  (IAGP)
Cardiomyopathy  (IAGP)
Cholestasis  (IAGP)
Cholestatic liver disease  (IAGP)
Chorioretinal atrophy  (IAGP)
Chronic hepatic failure  (IAGP)
Coma  (IAGP)
Congestive heart failure  (IAGP)
Decreased 3-hydroxyacyl-CoA dehydrogenase level  (IAGP)
Decreased patellar reflex  (IAGP)
Difficulty climbing stairs  (IAGP)
Diffuse hepatic steatosis  (IAGP)
Dilated cardiomyopathy  (IAGP)
Distal peripheral sensory neuropathy  (IAGP)
Elevated circulating acylcarnitine concentration  (IAGP)
Elevated circulating aspartate aminotransferase concentration  (IAGP)
Elevated circulating creatine kinase concentration  (IAGP)
Elevated hepatic transaminase  (IAGP)
Equinovarus deformity  (IAGP)
Equinus calcaneus  (IAGP)
Exercise intolerance  (IAGP)
Exotropia  (IAGP)
Failure to thrive  (IAGP)
Failure to thrive in infancy  (IAGP)
Feeding difficulties  (IAGP)
Frequent falls  (IAGP)
Generalized hypotonia  (IAGP)
Generalized muscle weakness  (IAGP)
Global developmental delay  (IAGP)
Hepatomegaly  (IAGP)
Hydrops fetalis  (IAGP)
Hyperammonemia  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypocalcemia  (IAGP)
Hypoglycemia  (IAGP)
Hypoketotic hypoglycemia  (IAGP)
Hypoparathyroidism  (IAGP)
Hypotonia  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Lactic acidosis  (IAGP)
Left ventricular hypertrophy  (IAGP)
Lethargy  (IAGP)
Lower limb muscle weakness  (IAGP)
Mitral regurgitation  (IAGP)
Motor delay  (IAGP)
Muscle spasm  (IAGP)
Myalgia  (IAGP)
Myoglobinuria  (IAGP)
Myopathy  (IAGP)
Myopia  (IAGP)
Neonatal onset  (IAGP)
Nyctalopia  (IAGP)
Peripheral neuropathy  (IAGP)
Pes cavus  (IAGP)
Photophobia  (IAGP)
Pigmentary retinopathy  (IAGP)
Poor suck  (IAGP)
Posterior staphyloma  (IAGP)
Prenatal maternal abnormality  (IAGP)
Primitive reflex  (IAGP)
Progressive distal muscle weakness  (IAGP)
Respiratory failure  (IAGP)
Respiratory insufficiency  (IAGP)
Retinopathy  (IAGP)
Rhabdomyolysis  (IAGP)
Rigors  (IAGP)
Seizure  (IAGP)
Sensorimotor neuropathy  (IAGP)
Skeletal myopathy  (IAGP)
Small for gestational age  (IAGP)
Sudden death  (IAGP)
Toe walking  (IAGP)
Tricuspid regurgitation  (IAGP)
Visual loss  (IAGP)
References

Additional References at PubMed
PMID:1550553   PMID:7738175   PMID:7811722   PMID:7918661   PMID:7958339   PMID:8135828   PMID:8163672   PMID:8770876   PMID:8865274   PMID:8921383   PMID:9003853   PMID:9266371  
PMID:9605857   PMID:9739053   PMID:10075708   PMID:11978893   PMID:12118083   PMID:12413376   PMID:12477932   PMID:12601813   PMID:12754706   PMID:12971430   PMID:14630990   PMID:14743216  
PMID:15146197   PMID:15161933   PMID:15347768   PMID:15489334   PMID:15952740   PMID:16055720   PMID:16176262   PMID:16196087   PMID:17081983   PMID:17143551   PMID:17199921   PMID:17313315  
PMID:17353931   PMID:18029348   PMID:18031367   PMID:18045290   PMID:18063578   PMID:18485779   PMID:18676680   PMID:19064571   PMID:19170196   PMID:19615732   PMID:19625176   PMID:19692168  
PMID:19737925   PMID:19738201   PMID:19765186   PMID:20186120   PMID:20305087   PMID:20360068   PMID:20532202   PMID:20562859   PMID:20589231   PMID:20736409   PMID:20814823   PMID:20825197  
PMID:20833797   PMID:20877624   PMID:21080425   PMID:21081666   PMID:21139048   PMID:21145461   PMID:21319273   PMID:21549624   PMID:21565611   PMID:21654808   PMID:21873635   PMID:21890473  
PMID:21906983   PMID:21963094   PMID:21988832   PMID:22000755   PMID:22178446   PMID:22190034   PMID:22304920   PMID:22325456   PMID:22471497   PMID:22496890   PMID:22583932   PMID:22586326  
PMID:22746996   PMID:22751105   PMID:22939629   PMID:23000965   PMID:23152787   PMID:23181366   PMID:23211419   PMID:23253803   PMID:23398456   PMID:23443559   PMID:23455922   PMID:23473034  
PMID:23874603   PMID:23979707   PMID:24067654   PMID:24105666   PMID:24255178   PMID:24550385   PMID:24657165   PMID:24711643   PMID:24816145   PMID:24980433   PMID:24981860   PMID:25147182  
PMID:25281560   PMID:25315684   PMID:25437307   PMID:25478839   PMID:25670202   PMID:25673715   PMID:25720964   PMID:25816318   PMID:25921289   PMID:25963833   PMID:26043024   PMID:26109258  
PMID:26344197   PMID:26367179   PMID:26446488   PMID:26496610   PMID:26549023   PMID:26687479   PMID:26715271   PMID:26972000   PMID:27025967   PMID:27248496   PMID:27375898   PMID:27377895  
PMID:27462432   PMID:27512140   PMID:27609421   PMID:27637333   PMID:27684187   PMID:27880917   PMID:28027390   PMID:28302793   PMID:28330616   PMID:28378594   PMID:28514442   PMID:28515276  
PMID:28581483   PMID:28712289   PMID:28902428   PMID:28927264   PMID:29053956   PMID:29095929   PMID:29128334   PMID:29229926   PMID:29395067   PMID:29449217   PMID:29459657   PMID:29467282  
PMID:29507755   PMID:29509190   PMID:29509794   PMID:29564676   PMID:29568061   PMID:29676528   PMID:29704455   PMID:29845934   PMID:29915090   PMID:29955894   PMID:29991511   PMID:30021884  
PMID:30209976   PMID:30251372   PMID:30462309   PMID:30463901   PMID:30575818   PMID:30619736   PMID:30669930   PMID:30711629   PMID:30737378   PMID:30804502   PMID:30833792   PMID:30890647  
PMID:30940648   PMID:30948266   PMID:30997501   PMID:31048545   PMID:31073040   PMID:31091453   PMID:31152661   PMID:31239290   PMID:31300519   PMID:31343991   PMID:31353912   PMID:31405213  
PMID:31472118   PMID:31501420   PMID:31527828   PMID:31536960   PMID:31586073   PMID:31685992   PMID:31980649   PMID:31985487   PMID:32033570   PMID:32041737   PMID:32129710   PMID:32513696  
PMID:32552912   PMID:32780723   PMID:32807901   PMID:32814053   PMID:32877691   PMID:32897397   PMID:32941674   PMID:33306668   PMID:33393495   PMID:33417214   PMID:33957083   PMID:34079125  


Genomics

Comparative Map Data
HADHA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl226,190,635 - 26,244,672 (-)EnsemblGRCh38hg38GRCh38
GRCh38226,190,635 - 26,244,632 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37226,413,504 - 26,467,500 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36226,267,008 - 26,321,098 (-)NCBINCBI36hg18NCBI36
Build 34226,325,159 - 26,379,140NCBI
Celera226,253,733 - 26,307,825 (-)NCBI
Cytogenetic Map2p23.3NCBI
HuRef226,149,287 - 26,203,382 (-)NCBIHuRef
CHM1_1226,343,424 - 26,397,498 (-)NCBICHM1_1
Hadha
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39530,324,421 - 30,359,978 (-)NCBIGRCm39mm39
GRCm39 Ensembl530,323,302 - 30,360,160 (-)Ensembl
GRCm38530,119,423 - 30,154,980 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl530,118,304 - 30,155,162 (-)EnsemblGRCm38mm10GRCm38
MGSCv37530,444,844 - 30,481,520 (-)NCBIGRCm37mm9NCBIm37
MGSCv36530,449,091 - 30,485,767 (-)NCBImm8
Celera527,635,841 - 27,672,518 (-)NCBICelera
Cytogenetic Map5B1NCBI
Hadha
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2626,187,969 - 26,227,605 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl626,187,956 - 26,227,869 (+)Ensembl
Rnor_6.0627,589,840 - 27,628,921 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl627,589,657 - 27,629,175 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0637,400,511 - 37,439,592 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4626,173,798 - 26,191,433 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1626,176,752 - 26,194,387NCBI
Celera625,664,847 - 25,704,584 (+)NCBICelera
Cytogenetic Map6q14NCBI
Hadha
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554698,183,945 - 8,233,869 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554698,183,945 - 8,233,869 (-)NCBIChiLan1.0ChiLan1.0
HADHA
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12A26,279,761 - 26,334,068 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A26,279,995 - 26,334,068 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02A26,185,938 - 26,240,229 (-)NCBIMhudiblu_PPA_v0panPan3
HADHA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11720,307,207 - 20,355,659 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1720,307,226 - 20,355,508 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1720,202,960 - 20,251,371 (-)NCBI
ROS_Cfam_1.01720,629,967 - 20,678,383 (-)NCBI
UMICH_Zoey_3.11720,316,604 - 20,365,079 (-)NCBI
UNSW_CanFamBas_1.01720,326,338 - 20,376,047 (-)NCBI
UU_Cfam_GSD_1.01720,374,308 - 20,422,731 (-)NCBI
Hadha
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629264,615,197 - 64,656,732 (-)NCBI
SpeTri2.0NW_0049364936,182,786 - 6,224,601 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HADHA
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl3112,752,865 - 112,797,735 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.13112,753,343 - 112,797,627 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.23119,690,643 - 119,782,862 (+)NCBISscrofa10.2Sscrofa10.2susScr3
HADHA
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11481,411,620 - 81,468,415 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl1481,411,648 - 81,472,257 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604530,689,160 - 30,746,673 (-)NCBIVero_WHO_p1.0
Hadha
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247388,338,250 - 8,384,701 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
D2S158  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37226,452,164 - 26,452,434UniSTSGRCh37
Build 36226,305,668 - 26,305,938RGDNCBI36
Celera226,292,392 - 26,292,666RGD
Cytogenetic Map2p23UniSTS
HuRef226,187,946 - 26,188,216UniSTS
Marshfield Genetic Map245.83RGD
Marshfield Genetic Map245.83UniSTS
Genethon Genetic Map250.1UniSTS
deCODE Assembly Map249.47UniSTS
Whitehead-YAC Contig Map2 UniSTS
SHGC-945  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37226,452,157 - 26,452,328UniSTSGRCh37
Build 36226,305,661 - 26,305,832RGDNCBI36
Celera226,292,385 - 26,292,560RGD
Cytogenetic Map2p23UniSTS
HuRef226,187,939 - 26,188,110UniSTS
TNG Radiation Hybrid Map219313.0UniSTS
RH17550  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37128,787,532 - 8,787,807UniSTSGRCh37
GRCh374166,326,677 - 166,326,951UniSTSGRCh37
Build 364166,546,127 - 166,546,401RGDNCBI36
Celera1210,325,117 - 10,325,392UniSTS
Celera4163,662,108 - 163,662,382RGD
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p23UniSTS
HuRef4162,078,476 - 162,078,750UniSTS
HuRef128,569,571 - 8,569,846UniSTS
RH103795  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37226,420,275 - 26,420,453UniSTSGRCh37
Build 36226,273,779 - 26,273,957RGDNCBI36
Celera226,260,504 - 26,260,682RGD
Cytogenetic Map2p23UniSTS
HuRef226,156,057 - 26,156,235UniSTS
GeneMap99-GB4 RH Map289.92UniSTS
D2S1548E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37226,414,365 - 26,414,496UniSTSGRCh37
Build 36226,267,869 - 26,268,000RGDNCBI36
Celera226,254,594 - 26,254,725RGD
Cytogenetic Map2p23UniSTS
HuRef226,150,148 - 26,150,279UniSTS
D12S1229E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37226,417,968 - 26,418,090UniSTSGRCh37
GRCh37128,789,407 - 8,789,530UniSTSGRCh37
Build 36226,271,472 - 26,271,594RGDNCBI36
Celera226,258,197 - 26,258,319RGD
Celera1210,326,992 - 10,327,115UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map2p23UniSTS
HuRef226,153,750 - 26,153,872UniSTS
HuRef128,571,446 - 8,571,569UniSTS
GDB:451574  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37226,413,843 - 26,413,963UniSTSGRCh37
GRCh37128,790,369 - 8,790,493UniSTSGRCh37
Build 36226,267,347 - 26,267,467RGDNCBI36
Celera226,254,072 - 26,254,192RGD
Celera1210,327,954 - 10,328,078UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map2p23UniSTS
HuRef226,149,626 - 26,149,746UniSTS
HuRef128,572,408 - 8,572,532UniSTS
HADHA-I16  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37226,417,307 - 26,417,671UniSTSGRCh37
Build 36226,270,811 - 26,271,175RGDNCBI36
Celera226,257,536 - 26,257,900RGD
HuRef226,153,089 - 26,153,453UniSTS
RH47828  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37226,437,603 - 26,437,728UniSTSGRCh37
Build 36226,291,107 - 26,291,232RGDNCBI36
Celera226,277,830 - 26,277,955RGD
Cytogenetic Map2p23UniSTS
HuRef226,173,384 - 26,173,509UniSTS
GeneMap99-GB4 RH Map297.79UniSTS
A002C23  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37226,413,930 - 26,414,048UniSTSGRCh37
Build 36226,267,434 - 26,267,552RGDNCBI36
Celera226,254,159 - 26,254,277RGD
Cytogenetic Map2p23UniSTS
HuRef226,149,713 - 26,149,831UniSTS
GeneMap99-GB4 RH Map289.92UniSTS
SHGC-34066  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374166,326,678 - 166,326,802UniSTSGRCh37
GRCh37226,437,387 - 26,438,002UniSTSGRCh37
Build 364166,546,128 - 166,546,252RGDNCBI36
Celera226,277,614 - 26,278,229UniSTS
Celera4163,662,109 - 163,662,233RGD
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map2p23UniSTS
Cytogenetic Map4q32UniSTS
HuRef4162,078,477 - 162,078,601UniSTS
HuRef226,173,168 - 26,173,783UniSTS
Whitehead-RH Map2147.7UniSTS
GeneMap99-G3 RH Map12567.0UniSTS
RH1478  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37226,413,825 - 26,414,005UniSTSGRCh37
Build 36226,267,329 - 26,267,509RGDNCBI36
Celera226,254,054 - 26,254,234RGD
Cytogenetic Map2p23UniSTS
HuRef226,149,608 - 26,149,788UniSTS
SHGC-31508  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37226,413,893 - 26,414,102UniSTSGRCh37
Build 36226,267,397 - 26,267,606RGDNCBI36
Celera226,254,122 - 26,254,331RGD
Cytogenetic Map2p23UniSTS
HuRef226,149,676 - 26,149,885UniSTS
TNG Radiation Hybrid Map219307.0UniSTS
GeneMap99-GB4 RH Map290.12UniSTS
Whitehead-RH Map2156.8UniSTS
GeneMap99-G3 RH Map25896.0UniSTS
G19975  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37226,413,930 - 26,414,048UniSTSGRCh37
Build 36226,267,434 - 26,267,552RGDNCBI36
Celera226,254,159 - 26,254,277RGD
Cytogenetic Map2p23UniSTS
HuRef226,149,713 - 26,149,831UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1128
Count of miRNA genes:716
Interacting mature miRNAs:811
Transcripts:ENST00000380649, ENST00000457468, ENST00000461025, ENST00000471743, ENST00000492433
Prediction methods:Miranda, Rnahybrid, Targetscan
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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2432 2973 1723 622 1946 464 4355 2182 3706 418 1448 1608 171 1204 2788 4
Low 3 16 3 1 5 1 13 23 1 5 1 4 1 2 1
Below cutoff 1 1 1 1 3 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB020811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC010896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC011742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI972144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN264228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D16480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ626228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GU727642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U04627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000380649   ⟹   ENSP00000370023
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl226,190,635 - 26,244,632 (-)Ensembl
RefSeq Acc Id: ENST00000461025
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl226,232,202 - 26,235,304 (-)Ensembl
RefSeq Acc Id: ENST00000471743
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl226,211,937 - 26,244,607 (-)Ensembl
RefSeq Acc Id: ENST00000492433   ⟹   ENSP00000438039
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl226,190,655 - 26,244,604 (-)Ensembl
RefSeq Acc Id: ENST00000643057   ⟹   ENSP00000493761
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl226,190,671 - 26,244,610 (-)Ensembl
RefSeq Acc Id: ENST00000643063   ⟹   ENSP00000495353
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl226,190,922 - 26,244,604 (-)Ensembl
RefSeq Acc Id: ENST00000643233   ⟹   ENSP00000493880
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl226,190,889 - 26,244,626 (-)Ensembl
RefSeq Acc Id: ENST00000644428   ⟹   ENSP00000495560
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl226,190,655 - 26,244,672 (-)Ensembl
RefSeq Acc Id: ENST00000645274   ⟹   ENSP00000493996
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl226,190,881 - 26,244,616 (-)Ensembl
RefSeq Acc Id: ENST00000646031   ⟹   ENSP00000493956
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl226,191,059 - 26,214,449 (-)Ensembl
RefSeq Acc Id: ENST00000646483   ⟹   ENSP00000496185
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl226,191,250 - 26,244,596 (-)Ensembl
RefSeq Acc Id: NM_000182   ⟹   NP_000173
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38226,190,635 - 26,244,632 (-)NCBI
GRCh37226,413,504 - 26,467,665 (-)NCBI
Build 36226,267,008 - 26,321,098 (-)NCBI Archive
HuRef226,149,287 - 26,203,382 (-)ENTREZGENE
CHM1_1226,343,424 - 26,397,498 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000173   ⟸   NM_000182
- Peptide Label: precursor
- UniProtKB: P40939 (UniProtKB/Swiss-Prot),   E9KL44 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000438039   ⟸   ENST00000492433
RefSeq Acc Id: ENSP00000493880   ⟸   ENST00000643233
RefSeq Acc Id: ENSP00000495353   ⟸   ENST00000643063
RefSeq Acc Id: ENSP00000493761   ⟸   ENST00000643057
RefSeq Acc Id: ENSP00000495560   ⟸   ENST00000644428
RefSeq Acc Id: ENSP00000370023   ⟸   ENST00000380649
RefSeq Acc Id: ENSP00000493996   ⟸   ENST00000645274
RefSeq Acc Id: ENSP00000493956   ⟸   ENST00000646031
RefSeq Acc Id: ENSP00000496185   ⟸   ENST00000646483
Protein Domains
3HCDH   3HCDH_N

Promoters
RGD ID:6859828
Promoter ID:EPDNEW_H3078
Type:initiation region
Name:HADHA_1
Description:hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoAhydratase , alpha subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38226,244,610 - 26,244,670EPDNEW
RGD ID:6797555
Promoter ID:HG_KWN:31856
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:NM_000182,   OTTHUMT00000214050,   OTTHUMT00000324480,   OTTHUMT00000324481,   OTTHUMT00000324482,   UC002RHA.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36226,320,516 - 26,322,222 (+)MPROMDB
RGD ID:6851952
Promoter ID:EP73782
Type:initiation region
Name:HS_HADHA
Description:Hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme Athiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alphasubunit.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36226,320,998 - 26,321,058EPD

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000182.5(HADHA):c.180+1G>A single nucleotide variant Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000665265]|Mitochondrial trifunctional protein deficiency [RCV000009269]|Mitochondrial trifunctional protein deficiency [RCV001382535] Chr2:26238933 [GRCh38]
Chr2:26461801 [GRCh37]
Chr2:2p23.3
pathogenic|likely pathogenic
NM_000182.5(HADHA):c.180+3A>G single nucleotide variant Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000984272]|Mitochondrial trifunctional protein deficiency [RCV000009270]|Mitochondrial trifunctional protein deficiency [RCV000763079]|not provided [RCV000185934] Chr2:26238931 [GRCh38]
Chr2:26461799 [GRCh37]
Chr2:2p23.3
pathogenic|likely pathogenic
NM_000182.5(HADHA):c.2132dup (p.Pro712fs) duplication Mitochondrial trifunctional protein deficiency [RCV000009272] Chr2:26191496..26191497 [GRCh38]
Chr2:26414365..26414366 [GRCh37]
Chr2:2p23.3
pathogenic
NM_000182.5(HADHA):c.2114T>A (p.Val705Asp) single nucleotide variant Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000674004]|not provided [RCV000521619] Chr2:26191515 [GRCh38]
Chr2:26414384 [GRCh37]
Chr2:2p23.3
likely pathogenic|uncertain significance
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln) single nucleotide variant HADHA-Related Disorders [RCV000778608]|Inborn genetic diseases [RCV000624767]|LCHAD Deficiency [RCV000504332]|Lchad deficiency with maternal acute fatty liver of pregnancy [RCV000009267]|Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000174836]|Mitochondrial trifunctional protein deficiency [RCV000009266]|Mitochondrial trifunctional protein deficiency [RCV000535911]|not provided [RCV000185933]|not specified [RCV001001910] Chr2:26195184 [GRCh38]
Chr2:26418053 [GRCh37]
Chr2:2p23.3
pathogenic
NM_000182.5(HADHA):c.1132C>T (p.Gln378Ter) single nucleotide variant Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000665238]|Mitochondrial trifunctional protein deficiency [RCV000009268] Chr2:26204150 [GRCh38]
Chr2:26427019 [GRCh37]
Chr2:2p23.3
pathogenic|likely pathogenic
NM_000182.5(HADHA):c.1678C>T (p.Arg560Ter) single nucleotide variant Mitochondrial trifunctional protein deficiency [RCV000009271]|Mitochondrial trifunctional protein deficiency [RCV000820848] Chr2:26194581 [GRCh38]
Chr2:26417450 [GRCh37]
Chr2:2p23.3
pathogenic
NM_000182.5(HADHA):c.1025T>C (p.Leu342Pro) single nucleotide variant Mitochondrial trifunctional protein deficiency [RCV000009273] Chr2:26209840 [GRCh38]
Chr2:26432709 [GRCh37]
Chr2:2p23.3
pathogenic
NM_000182.5(HADHA):c.845T>A (p.Val282Asp) single nucleotide variant Mitochondrial trifunctional protein deficiency [RCV000009274] Chr2:26214516 [GRCh38]
Chr2:26437385 [GRCh37]
Chr2:2p23.3
pathogenic
NM_000182.5(HADHA):c.914T>A (p.Ile305Asn) single nucleotide variant Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000984273]|Mitochondrial trifunctional protein deficiency [RCV000009275]|Mitochondrial trifunctional protein deficiency [RCV000803503]|not provided [RCV000422654] Chr2:26214447 [GRCh38]
Chr2:26437316 [GRCh37]
Chr2:2p23.3
pathogenic|likely pathogenic|uncertain significance
NM_000182.5(HADHA):c.871C>T (p.Arg291Ter) single nucleotide variant Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000589800]|Mitochondrial trifunctional protein deficiency [RCV000009276]|Mitochondrial trifunctional protein deficiency [RCV000819036] Chr2:26214490 [GRCh38]
Chr2:26437359 [GRCh37]
Chr2:2p23.3
pathogenic
GRCh38/hg38 2p25.3-23.1(chr2:30141-31766749)x3 copy number gain See cases [RCV000052929] Chr2:30141..31766749 [GRCh38]
Chr2:30141..31991818 [GRCh37]
Chr2:20141..31845322 [NCBI36]
Chr2:2p25.3-23.1
pathogenic
GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3 copy number gain See cases [RCV000052933] Chr2:66097..55570637 [GRCh38]
Chr2:66097..55797773 [GRCh37]
Chr2:56097..55651277 [NCBI36]
Chr2:2p25.3-16.1
pathogenic
GRCh38/hg38 2p23.3(chr2:25759602-27297636)x3 copy number gain See cases [RCV000052629] Chr2:25759602..27297636 [GRCh38]
Chr2:25982471..27520504 [GRCh37]
Chr2:25835975..27374008 [NCBI36]
Chr2:2p23.3
uncertain significance
NM_000182.5(HADHA):c.919-2A>G single nucleotide variant Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000173656]|Mitochondrial trifunctional protein deficiency [RCV001232732]|not provided [RCV000185930] Chr2:26212628 [GRCh38]
Chr2:26435497 [GRCh37]
Chr2:2p23.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000182.4(HADHA):c.2106C>T (p.Ile702=) single nucleotide variant Malignant melanoma [RCV000065512] Chr2:26191523 [GRCh38]
Chr2:26414392 [GRCh37]
Chr2:26267896 [NCBI36]
Chr2:2p23.3
not provided
NM_000182.4(HADHA):c.1828C>T (p.Arg610Trp) single nucleotide variant Malignant melanoma [RCV000065513] Chr2:26193634 [GRCh38]
Chr2:26416503 [GRCh37]
Chr2:26270007 [NCBI36]
Chr2:2p23.3
not provided
NM_000182.4(HADHA):c.1380G>A (p.Lys460=) single nucleotide variant Malignant melanoma [RCV000065514] Chr2:26201161 [GRCh38]
Chr2:26424030 [GRCh37]
Chr2:26277534 [NCBI36]
Chr2:2p23.3
not provided
NM_000182.5(HADHA):c.-1G>T single nucleotide variant Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV001143036]|Mitochondrial trifunctional protein deficiency [RCV001141194]|not provided [RCV000997087]|not specified [RCV000078333] Chr2:26244597 [GRCh38]
Chr2:26467465 [GRCh37]
Chr2:2p23.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000182.5(HADHA):c.157C>T (p.Arg53Ter) single nucleotide variant Mitochondrial trifunctional protein deficiency [RCV000177003]|not provided [RCV000177002] Chr2:26238957 [GRCh38]
Chr2:26461825 [GRCh37]
Chr2:2p23.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000182.5(HADHA):c.1981C>T (p.Leu661=) single nucleotide variant Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000386562]|Mitochondrial trifunctional protein deficiency [RCV000294603]|Mitochondrial trifunctional protein deficiency [RCV001082488]|not provided [RCV000588853]|not specified [RCV000078335] Chr2:26192329 [GRCh38]
Chr2:26415198 [GRCh37]
Chr2:2p23.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000182.5(HADHA):c.474C>T (p.Tyr158=) single nucleotide variant Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000276323]|Mitochondrial trifunctional protein deficiency [RCV000370977]|Mitochondrial trifunctional protein deficiency [RCV001519830]|not specified [RCV000078336] Chr2:26232259 [GRCh38]
Chr2:26455127 [GRCh37]
Chr2:2p23.3
benign
NM_000182.5(HADHA):c.1620+11G>C single nucleotide variant Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000370199]|Mitochondrial trifunctional protein deficiency [RCV000331814]|Mitochondrial trifunctional protein deficiency [RCV001522982]|none provided [RCV001287123]|not specified [RCV000125340] Chr2:26195081 [GRCh38]
Chr2:26417950 [GRCh37]
Chr2:2p23.3
benign|likely benign
NM_000182.5(HADHA):c.2083G>A (p.Ala695Thr) single nucleotide variant not provided [RCV000144491] Chr2:26191546 [GRCh38]
Chr2:26414415 [GRCh37]
Chr2:2p23.3
not provided
NM_000182.5(HADHA):c.2146+1G>A single nucleotide variant Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000175394]|not provided [RCV000724121] Chr2:26191482 [GRCh38]
Chr2:26414351 [GRCh37]
Chr2:2p23.3
pathogenic|likely pathogenic
NM_000182.5(HADHA):c.1918C>T (p.Gln640Ter) single nucleotide variant not provided [RCV000175266] Chr2:26192392 [GRCh38]
Chr2:26415261 [GRCh37]
Chr2:2p23.3
pathogenic
NM_000182.5(HADHA):c.403A>G (p.Lys135Glu) single nucleotide variant Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000178729]|not provided [RCV000724120] Chr2:26234267 [GRCh38]
Chr2:26457135 [GRCh37]
Chr2:2p23.3
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000182.5(HADHA):c.2259T>C (p.His753=) single nucleotide variant Mitochondrial trifunctional protein deficiency [RCV001493741] Chr2:26191283 [GRCh38]
Chr2:26414152 [GRCh37]
Chr2:2p23.3
likely benign
NM_000182.5(HADHA):c.1418C>A (p.Ala473Asp) single nucleotide variant Mitochondrial trifunctional protein deficiency [RCV001242839]|not provided [RCV000174666] Chr2:26197752 [GRCh38]
Chr2:26420621 [GRCh37]
Chr2:2p23.3
uncertain significance
GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3 copy number gain See cases [RCV000135398] Chr2:30341..28419664 [GRCh38]
Chr2:30341..28642531 [GRCh37]
Chr2:20341..28496035 [NCBI36]
Chr2:2p25.3-23.2
pathogenic
GRCh38/hg38 2p23.3(chr2:25064306-27154398)x1 copy number loss See cases [RCV000137065] Chr2:25064306..27154398 [GRCh38]
Chr2:25287175..27377266 [GRCh37]
Chr2:25140679..27230770 [NCBI36]
Chr2:2p23.3
uncertain significance
GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3 copy number gain See cases [RCV000137344] Chr2:17019..26318846 [GRCh38]
Chr2:17019..26541714 [GRCh37]
Chr2:7019..26395218 [NCBI36]
Chr2:2p25.3-23.3
pathogenic
GRCh38/hg38 2p23.3(chr2:25819153-26272376)x1 copy number loss See cases [RCV000141873] Chr2:25819153..26272376 [GRCh38]
Chr2:26042022..26495244 [GRCh37]
Chr2:25895526..26348748 [NCBI36]
Chr2:2p23.3
uncertain significance
GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3 copy number gain See cases [RCV000141829] Chr2:12770..33711509 [GRCh38]
Chr2:12770..33936576 [GRCh37]
Chr2:2770..33790080 [NCBI36]
Chr2:2p25.3-22.3
pathogenic
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 copy number gain See cases [RCV000141494] Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2
benign
GRCh38/hg38 2p24.1-23.2(chr2:22579652-28525186)x1 copy number loss See cases [RCV000142071] Chr2:22579652..28525186 [GRCh38]
Chr2:22802524..28748053 [GRCh37]
Chr2:22656029..28601557 [NCBI36]
Chr2:2p24.1-23.2
pathogenic
GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3 copy number gain See cases [RCV000143682] Chr2:236816..45983232 [GRCh38]
Chr2:236816..46210371 [GRCh37]
Chr2:226816..46063875 [NCBI36]
Chr2:2p25.3-21
pathogenic
NM_000182.5(HADHA):c.1967del (p.Ile655_Leu656insTer) deletion Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000169001]|Mitochondrial trifunctional protein deficiency [RCV001239627]|not provided [RCV000255407] Chr2:26192343 [GRCh38]
Chr2:26415212 [GRCh37]
Chr2:2p23.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000182.5(HADHA):c.1793_1794del (p.His598fs) deletion Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000169337]|Mitochondrial trifunctional protein deficiency [RCV001041924] Chr2:26193668..26193669 [GRCh38]
Chr2:26416537..26416538 [GRCh37]
Chr2:2p23.3
pathogenic|likely pathogenic
NM_000182.5(HADHA):c.703C>T (p.Arg235Trp) single nucleotide variant Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000169366]|not provided [RCV000421144] Chr2:26215149 [GRCh38]
Chr2:26438018 [GRCh37]
Chr2:2p23.3
likely pathogenic
NM_000182.5(HADHA):c.1981_1999del (p.Leu661fs) deletion Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000169495]|Mitochondrial trifunctional protein deficiency [RCV001193146] Chr2:26192311..26192329 [GRCh38]
Chr2:26415180..26415198 [GRCh37]
Chr2:2p23.3
likely pathogenic
NM_000182.5(HADHA):c.274_278del (p.Ser92fs) deletion HADHA-Related Disorders [RCV000779319]|Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000169517]|Mitochondrial trifunctional protein deficiency [RCV001058997]|not provided [RCV000185936] Chr2:26236891..26236895 [GRCh38]
Chr2:26459759..26459763 [GRCh37]
Chr2:2p23.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000182.5(HADHA):c.573+8dup duplication Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV001276346]|Mitochondrial trifunctional protein deficiency [RCV000645256]|not specified [RCV000185924] Chr2:26232151..26232152 [GRCh38]
Chr2:26455019..26455020 [GRCh37]
Chr2:2p23.3
benign
NM_000182.5(HADHA):c.1392+10G>A single nucleotide variant Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000277775]|Mitochondrial trifunctional protein deficiency [RCV000316751]|Mitochondrial trifunctional protein deficiency [RCV000559864]|not specified [RCV000185925] Chr2:26201139 [GRCh38]
Chr2:26424008 [GRCh37]
Chr2:2p23.3
benign|likely benign
NM_000182.5(HADHA):c.1690-6G>A single nucleotide variant Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000395377]|Mitochondrial trifunctional protein deficiency [RCV000340887]|Mitochondrial trifunctional protein deficiency [RCV000870997]|not specified [RCV000185926] Chr2:26193778 [GRCh38]
Chr2:26416647 [GRCh37]
Chr2:2p23.3
benign|uncertain significance
NM_000182.5(HADHA):c.2146+16T>C single nucleotide variant Mitochondrial trifunctional protein deficiency [RCV001516156]|none provided [RCV001283071]|not specified [RCV000185927] Chr2:26191467 [GRCh38]
Chr2:26414336 [GRCh37]
Chr2:2p23.3
benign
NM_000182.5(HADHA):c.-25C>G single nucleotide variant Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV001143037]|not specified [RCV000185928] Chr2:26244621 [GRCh38]
Chr2:26467489 [GRCh37]
Chr2:2p23.3
benign|likely benign
NM_000182.4(HADHA):c.479T>A (p.Ile160Lys) single nucleotide variant not specified [RCV000185929] Chr2:26232254 [GRCh38]
Chr2:26455122 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000182.5(HADHA):c.982G>A (p.Gly328Arg) single nucleotide variant Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000674081]|not specified [RCV000185932] Chr2:26209883 [GRCh38]
Chr2:26432752 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000182.5(HADHA):c.955G>A (p.Gly319Ser) single nucleotide variant Inborn genetic diseases [RCV000624142]|Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000665593]|not provided [RCV000505768] Chr2:26212590 [GRCh38]
Chr2:26435459 [GRCh37]
Chr2:2p23.3
likely pathogenic|uncertain significance
NM_000182.5(HADHA):c.1916_1919dup (p.Glu641fs) duplication not provided [RCV000185935] Chr2:26192390..26192391 [GRCh38]
Chr2:26415259..26415260 [GRCh37]
Chr2:2p23.3
pathogenic
NM_000182.5(HADHA):c.407C>G (p.Pro136Arg) single nucleotide variant not provided [RCV000185937] Chr2:26234263 [GRCh38]
Chr2:26457131 [GRCh37]
Chr2:2p23.3
likely pathogenic
NM_000182.5(HADHA):c.1668_1674dup (p.Ile559Ter) duplication not provided [RCV000185938] Chr2:26194584..26194585 [GRCh38]
Chr2:26417453..26417454 [GRCh37]
Chr2:2p23.3
pathogenic
NM_000182.5(HADHA):c.68-414A>G single nucleotide variant Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV001526455] Chr2:26239557 [GRCh38]
Chr2:26462425 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000182.5(HADHA):c.1072C>A (p.Gln358Lys) single nucleotide variant Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000320111]|Mitochondrial trifunctional protein deficiency [RCV000377268]|Mitochondrial trifunctional protein deficiency [RCV001081747]|not provided [RCV000224809]|not specified [RCV000594589] Chr2:26209793 [GRCh38]
Chr2:26432662 [GRCh37]
Chr2:2p23.3
pathogenic|benign|likely benign
NM_000182.5(HADHA):c.1543G>A (p.Glu515Lys) single nucleotide variant Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV001271659]|not provided [RCV000757348] Chr2:26195169 [GRCh38]
Chr2:26418038 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000182.5(HADHA):c.2226_2228dup (p.Gln743dup) duplication Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000669623] Chr2:26191313..26191314 [GRCh38]
Chr2:26414182..26414183 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000182.5(HADHA):c.2227_2228del (p.Gln743fs) deletion Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000669417] Chr2:26191314..26191315 [GRCh38]
Chr2:26414183..26414184 [GRCh37]
Chr2:2p23.3
likely pathogenic
NM_000182.5(HADHA):c.646_657dup (p.Gly216_Asp219dup) duplication Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000669764] Chr2:26230210..26230211 [GRCh38]
Chr2:26453078..26453079 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000182.5(HADHA):c.315-1G>A single nucleotide variant Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000670063]|Mitochondrial trifunctional protein deficiency [RCV001382534] Chr2:26234356 [GRCh38]
Chr2:26457224 [GRCh37]
Chr2:2p23.3
pathogenic|likely pathogenic
NM_000182.5(HADHA):c.*202G>A single nucleotide variant Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000269209]|Mitochondrial trifunctional protein deficiency [RCV000361491] Chr2:26191048 [GRCh38]
Chr2:26413917 [GRCh37]
Chr2:2p23.3
benign
NM_000182.4(HADHA):c.-37T>C single nucleotide variant LCHAD Deficiency [RCV000284459]|Mitochondrial trifunctional protein deficiency [RCV000339375] Chr2:26244633 [GRCh38]
Chr2:26467501 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000182.5(HADHA):c.1829G>A (p.Arg610Gln) single nucleotide variant Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000336816]|Mitochondrial trifunctional protein deficiency [RCV000279407]|Mitochondrial trifunctional protein deficiency [RCV001313068] Chr2:26193633 [GRCh38]
Chr2:26416502 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000182.5(HADHA):c.1212G>C (p.Val404=) single nucleotide variant Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000373682]|Mitochondrial trifunctional protein deficiency [RCV000281388]|Mitochondrial trifunctional protein deficiency [RCV001079829]|not provided [RCV000728811]|not specified [RCV000430549] Chr2:26204070 [GRCh38]
Chr2:26426939 [GRCh37]
Chr2:2p23.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000182.5(HADHA):c.*302G>A single nucleotide variant Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000265615]|Mitochondrial trifunctional protein deficiency [RCV000304403] Chr2:26190948 [GRCh38]
Chr2:26413817 [GRCh37]
Chr2:2p23.3
benign|likely benign
NM_000182.5(HADHA):c.1843A>G (p.Asn615Asp) single nucleotide variant Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV001271657]|Mitochondrial trifunctional protein deficiency [RCV000876475]|not specified [RCV000519687] Chr2:26193619 [GRCh38]
Chr2:26416488 [GRCh37]
Chr2:2p23.3
benign|uncertain significance
NM_000182.5(HADHA):c.1655C>T (p.Ala552Val) single nucleotide variant LCHAD Deficiency [RCV000274364]|Mitochondrial trifunctional protein deficiency [RCV000366235] Chr2:26194604 [GRCh38]
Chr2:26417473 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000182.5(HADHA):c.1690-14C>T single nucleotide variant Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000309249]|Mitochondrial trifunctional protein deficiency [RCV000270428] Chr2:26193786 [GRCh38]
Chr2:26416655 [GRCh37]
Chr2:2p23.3
likely benign|uncertain significance
NM_000182.5(HADHA):c.2113G>A (p.Val705Ile) single nucleotide variant Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000272673]|Mitochondrial trifunctional protein deficiency [RCV000329683]|Mitochondrial trifunctional protein deficiency [RCV001240790] Chr2:26191516 [GRCh38]
Chr2:26414385 [GRCh37]
Chr2:2p23.3
pathogenic|uncertain significance
NM_000182.5(HADHA):c.79C>T (p.Arg27Cys) single nucleotide variant Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000327720]|Mitochondrial trifunctional protein deficiency [RCV000272897]|Mitochondrial trifunctional protein deficiency [RCV001401918] Chr2:26239132 [GRCh38]
Chr2:26462000 [GRCh37]
Chr2:2p23.3
likely benign|uncertain significance
NM_000182.5(HADHA):c.1912A>G (p.Ile638Val) single nucleotide variant Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000351798]|Mitochondrial trifunctional protein deficiency [RCV000371597] Chr2:26192398 [GRCh38]
Chr2:26415267 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000182.5(HADHA):c.*355C>T single nucleotide variant Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000299877]|Mitochondrial trifunctional protein deficiency [RCV000357972] Chr2:26190895 [GRCh38]
Chr2:26413764 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000182.5(HADHA):c.585T>A (p.Pro195=) single nucleotide variant Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000301268]|Mitochondrial trifunctional protein deficiency [RCV000356043]|Mitochondrial trifunctional protein deficiency [RCV000890755] Chr2:26230283 [GRCh38]
Chr2:26453151 [GRCh37]
Chr2:2p23.3
likely benign|uncertain significance
NM_000182.5(HADHA):c.1794T>C (p.His598=) single nucleotide variant Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000406178]|Mitochondrial trifunctional protein deficiency [RCV000302409]|Mitochondrial trifunctional protein deficiency [RCV000892595] Chr2:26193668 [GRCh38]
Chr2:26416537 [GRCh37]
Chr2:2p23.3
likely benign|uncertain significance
NM_000182.5(HADHA):c.68-10T>G single nucleotide variant Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000382309]|Mitochondrial trifunctional protein deficiency [RCV000287761]|Mitochondrial trifunctional protein deficiency [RCV000556545]|not specified [RCV000436473] Chr2:26239153 [GRCh38]
Chr2:26462021 [GRCh37]
Chr2:2p23.3
benign|likely benign|uncertain significance
NM_000182.5(HADHA):c.*510A>T single nucleotide variant Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000377202]|Mitochondrial trifunctional protein deficiency [RCV000320371] Chr2:26190740 [GRCh38]
Chr2:26413609 [GRCh37]
Chr2:2p23.3
benign|likely benign
NM_000182.5(HADHA):c.858G>A (p.Val286=) single nucleotide variant Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000288747]|Mitochondrial trifunctional protein deficiency [RCV000404527]|Mitochondrial trifunctional protein deficiency [RCV000877582] Chr2:26214503 [GRCh38]
Chr2:26437372 [GRCh37]
Chr2:2p23.3
likely benign|uncertain significance
NM_000182.5(HADHA):c.1690-13G>A single nucleotide variant Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000305859]|Mitochondrial trifunctional protein deficiency [RCV000362785]|not specified [RCV000611287] Chr2:26193785 [GRCh38]
Chr2:26416654 [GRCh37]
Chr2:2p23.3
likely benign|uncertain significance
NM_000182.5(HADHA):c.16G>C (p.Ala6Pro) single nucleotide variant LCHAD Deficiency [RCV000378899]|Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV001141193]|Mitochondrial trifunctional protein deficiency [RCV000324084]|not provided [RCV001507551] Chr2:26244581 [GRCh38]
Chr2:26467449 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000182.5(HADHA):c.2147-8C>G single nucleotide variant Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000383464]|Mitochondrial trifunctional protein deficiency [RCV000326597]|Mitochondrial trifunctional protein deficiency [RCV000935744] Chr2:26191403 [GRCh38]
Chr2:26414272 [GRCh37]
Chr2:2p23.3
likely benign|uncertain significance
NM_000182.5(HADHA):c.560G>C (p.Arg187Thr) single nucleotide variant Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000297574]|Mitochondrial trifunctional protein deficiency [RCV000394004]|Mitochondrial trifunctional protein deficiency [RCV001246947] Chr2:26232173 [GRCh38]
Chr2:26455041 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000182.5(HADHA):c.454-13C>T single nucleotide variant Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000331335]|Mitochondrial trifunctional protein deficiency [RCV000367435] Chr2:26232292 [GRCh38]
Chr2:26455160 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000182.5(HADHA):c.*494G>T single nucleotide variant Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000266395]|Mitochondrial trifunctional protein deficiency [RCV000323964] Chr2:26190756 [GRCh38]
Chr2:26413625 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000182.5(HADHA):c.241G>A (p.Ala81Thr) single nucleotide variant Mitochondrial trifunctional protein deficiency [RCV001362752] Chr2:26236928 [GRCh38]
Chr2:26459796 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000182.5(HADHA):c.676+2T>C single nucleotide variant Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000586670]|Mitochondrial trifunctional protein deficiency [RCV001382533] Chr2:26230190 [GRCh38]
Chr2:26453058 [GRCh37]
Chr2:2p23.3
pathogenic
NM_000182.5(HADHA):c.914T>C (p.Ile305Thr) single nucleotide variant Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000674233]|not provided [RCV000520333] Chr2:26214447 [GRCh38]
Chr2:26437316 [GRCh37]
Chr2:2p23.3
likely pathogenic|uncertain significance
NM_000182.5(HADHA):c.*389C>G single nucleotide variant Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000395719]|Mitochondrial trifunctional protein deficiency [RCV000315108] Chr2:26190861 [GRCh38]
Chr2:26413730 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000182.5(HADHA):c.676+6T>C single nucleotide variant Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000346100]|Mitochondrial trifunctional protein deficiency [RCV000395686] Chr2:26230186 [GRCh38]
Chr2:26453054 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000182.5(HADHA):c.*458_*459TG[3] microsatellite LCHAD Deficiency [RCV000346146]|Mitochondrial trifunctional protein deficiency [RCV000384460] Chr2:26190785..26190786 [GRCh38]
Chr2:26413654..26413655 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000182.5(HADHA):c.*405C>T single nucleotide variant Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000292959]|Mitochondrial trifunctional protein deficiency [RCV000350206] Chr2:26190845 [GRCh38]
Chr2:26413714 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_001281512.1(HADHB):c.-201G>A single nucleotide variant LCHAD Deficiency [RCV000395927]|Mitochondrial trifunctional protein deficiency [RCV000336882] Chr2:26244798 [GRCh38]
Chr2:26467666 [GRCh37]
Chr2:2p23.3
benign
NM_000182.5(HADHA):c.*373_*374GT[1] microsatellite LCHAD Deficiency [RCV000396135]|Mitochondrial trifunctional protein deficiency [RCV000334999] Chr2:26190874..26190875 [GRCh38]
Chr2:26413743..26413744 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000182.5(HADHA):c.932G>C (p.Gly311Ala) single nucleotide variant Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000342501]|Mitochondrial trifunctional protein deficiency [RCV000285094] Chr2:26212613 [GRCh38]
Chr2:26435482 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_001281512.1(HADHB):c.-214C>T single nucleotide variant LCHAD Deficiency [RCV000284120]|Mitochondrial trifunctional protein deficiency [RCV000280419] Chr2:26244785 [GRCh38]
Chr2:26467653 [GRCh37]
Chr2:2p23.3
likely benign
NM_000182.5(HADHA):c.*489G>A single nucleotide variant Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000288820]|Mitochondrial trifunctional protein deficiency [RCV000380854] Chr2:26190761 [GRCh38]
Chr2:26413630 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_001281512.1(HADHB):c.-185G>C single nucleotide variant LCHAD Deficiency [RCV000335639]|Mitochondrial trifunctional protein deficiency [RCV000297087] Chr2:26244814 [GRCh38]
Chr2:26467682 [GRCh37]
Chr2:2p23.3
likely benign
NM_000182.5(HADHA):c.1234G>T (p.Val412Leu) single nucleotide variant not provided [RCV000595918] Chr2:26201307 [GRCh38]
Chr2:26424176 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000182.5(HADHA):c.1814_1815del (p.Lys605fs) deletion Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000675017]|not provided [RCV000598677] Chr2:26193647..26193648 [GRCh38]
Chr2:26416516..26416517 [GRCh37]
Chr2:2p23.3
likely pathogenic
NM_000182.5(HADHA):c.1465A>G (p.Lys489Glu) single nucleotide variant Mitochondrial trifunctional protein deficiency [RCV000802986]|not provided [RCV000587832] Chr2:26197705 [GRCh38]
Chr2:26420574 [GRCh37]
Chr2:2p23.3
likely benign|uncertain significance
NM_000182.5(HADHA):c.*59C>T single nucleotide variant Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV001138397]|Mitochondrial trifunctional protein deficiency [RCV001138398] Chr2:26191191 [GRCh38]
Chr2:26414060 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000182.5(HADHA):c.-17G>A single nucleotide variant not provided [RCV000588427] Chr2:26244613 [GRCh38]
Chr2:26467481 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000182.5(HADHA):c.1689+11C>T single nucleotide variant Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV001138508]|Mitochondrial trifunctional protein deficiency [RCV001138509] Chr2:26194559 [GRCh38]
Chr2:26417428 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000182.5(HADHA):c.1195C>T (p.Arg399Ter) single nucleotide variant Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000667154]|Mitochondrial trifunctional protein deficiency [RCV001169966]|not provided [RCV000523677] Chr2:26204087 [GRCh38]
Chr2:26426956 [GRCh37]
Chr2:2p23.3
pathogenic|likely pathogenic
NM_000182.5(HADHA):c.2146+2T>C single nucleotide variant Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000409142] Chr2:26191481 [GRCh38]
Chr2:26414350 [GRCh37]
Chr2:2p23.3
likely pathogenic
NM_000182.5(HADHA):c.1915_1918del (p.Tyr639fs) deletion Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000409331]|Mitochondrial trifunctional protein deficiency [RCV001234387] Chr2:26192392..26192395 [GRCh38]
Chr2:26415261..26415264 [GRCh37]
Chr2:2p23.3
pathogenic|likely pathogenic
NM_000182.5(HADHA):c.1052del (p.Lys351fs) deletion Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000409333] Chr2:26209813 [GRCh38]
Chr2:26432682 [GRCh37]
Chr2:2p23.3
likely pathogenic
NM_000182.5(HADHA):c.1A>G (p.Met1Val) single nucleotide variant Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000410119] Chr2:26244596 [GRCh38]
Chr2:26467464 [GRCh37]
Chr2:2p23.3
likely pathogenic
NM_000182.5(HADHA):c.2071G>T (p.Glu691Ter) single nucleotide variant Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000410253] Chr2:26191558 [GRCh38]
Chr2:26414427 [GRCh37]
Chr2:2p23.3
likely pathogenic
NM_000182.5(HADHA):c.1237A>T (p.Lys413Ter) single nucleotide variant Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000410271] Chr2:26201304 [GRCh38]
Chr2:26424173 [GRCh37]
Chr2:2p23.3
likely pathogenic
NM_000182.5(HADHA):c.1344_1345del (p.Val448_Phe449insTer) microsatellite Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000410451] Chr2:26201196..26201197 [GRCh38]
Chr2:26424065..26424066 [GRCh37]
Chr2:2p23.3
likely pathogenic
NM_000182.5(HADHA):c.453+1G>A single nucleotide variant Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000410550]|Mitochondrial trifunctional protein deficiency [RCV000824013] Chr2:26234216 [GRCh38]
Chr2:26457084 [GRCh37]
Chr2:2p23.3
likely pathogenic
NM_000182.5(HADHA):c.1690-2A>G single nucleotide variant Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000410623]|not provided [RCV000439661] Chr2:26193774 [GRCh38]
Chr2:26416643 [GRCh37]
Chr2:2p23.3
pathogenic|likely pathogenic
NM_000182.5(HADHA):c.1590del (p.Lys531fs) deletion Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000410644] Chr2:26195122 [GRCh38]
Chr2:26417991 [GRCh37]
Chr2:2p23.3
likely pathogenic
NM_000182.5(HADHA):c.515del (p.Pro172fs) deletion Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000411006] Chr2:26232218 [GRCh38]
Chr2:26455086 [GRCh37]
Chr2:2p23.3
likely pathogenic
NM_000182.5(HADHA):c.809C>T (p.Ala270Val) single nucleotide variant Mitochondrial trifunctional protein deficiency [RCV000537414] Chr2:26214552 [GRCh38]
Chr2:26437421 [GRCh37]
Chr2:2p23.3
likely benign|uncertain significance
NM_000182.5(HADHA):c.1811del (p.Gly604fs) deletion Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000411664]|not provided [RCV000413009] Chr2:26193651 [GRCh38]
Chr2:26416520 [GRCh37]
Chr2:2p23.3
pathogenic|likely pathogenic
NM_000182.5(HADHA):c.240G>A (p.Trp80Ter) single nucleotide variant Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000411851] Chr2:26236929 [GRCh38]
Chr2:26459797 [GRCh37]
Chr2:2p23.3
likely pathogenic
NM_000182.5(HADHA):c.1221-1G>C single nucleotide variant Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [RCV000411941] Chr2:26201321 [GRCh38]
Chr2:26424190 [GRCh37]