HADH (hydroxyacyl-CoA dehydrogenase) - Rat Genome Database

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Gene: HADH (hydroxyacyl-CoA dehydrogenase) Homo sapiens
Analyze
Symbol: HADH
Name: hydroxyacyl-CoA dehydrogenase
RGD ID: 1351201
HGNC Page HGNC:4799
Description: Enables 3-hydroxyacyl-CoA dehydrogenase activity; NAD+ binding activity; and identical protein binding activity. Involved in fatty acid beta-oxidation. Located in mitochondrion and nucleoplasm. Implicated in familial hyperinsulinemic hypoglycemia 4.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: HAD; HADH1; HADHSC; HCDH; HHF4; hydroxyacyl-coenzyme A dehydrogenase, mitochondrial; L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain; M/SCHAD; medium and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase; MGC8392; MSCHAD; SCHAD; short-chain 3-hydroxyacyl-CoA dehydrogenase; testis secretory sperm-binding protein Li 203a
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: LOC390586  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384107,989,889 - 108,035,171 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4107,989,714 - 108,035,241 (+)EnsemblGRCh38hg38GRCh38
GRCh374108,911,045 - 108,956,327 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364109,130,389 - 109,175,780 (+)NCBINCBI36Build 36hg18NCBI36
Celera4106,205,689 - 106,251,144 (+)NCBICelera
Cytogenetic Map4q25NCBI
HuRef4104,642,283 - 104,687,973 (+)NCBIHuRef
CHM1_14108,887,327 - 108,932,780 (+)NCBICHM1_1
T2T-CHM13v2.04111,292,223 - 111,337,508 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-dexrazoxane  (ISO)
(+)-schisandrin B  (ISO)
(1->4)-beta-D-glucan  (ISO)
(R)-adrenaline  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4,6-tribromophenol  (EXP)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-methylcholine  (EXP)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3-chloropropane-1,2-diol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP,ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP)
6-(4-chlorophenyl)imidazo[2,1-b][1,3]thiazole-5-carbaldehyde O-(3,4-dichlorobenzyl)oxime  (EXP)
6-propyl-2-thiouracil  (ISO)
7H-xanthine  (ISO)
9H-xanthine  (ISO)
acetamide  (ISO)
acrolein  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP,ISO)
amitrole  (ISO)
ammonium chloride  (ISO)
aristolochic acid A  (EXP)
arsenous acid  (ISO)
atrazine  (EXP)
azathioprine  (EXP)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP)
cadmium atom  (ISO)
carbon nanotube  (ISO)
carmustine  (EXP)
cefaloridine  (ISO)
CGP 52608  (EXP)
chromium(6+)  (ISO)
cisplatin  (EXP,ISO)
clofibrate  (ISO)
cobalt dichloride  (EXP,ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
cyclosporin A  (EXP,ISO)
cylindrospermopsin  (ISO)
decabromodiphenyl ether  (EXP)
dexamethasone  (EXP,ISO)
dextran sulfate  (ISO)
diarsenic trioxide  (ISO)
dibutyl phthalate  (ISO)
dioxygen  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
endosulfan  (ISO)
Enterolactone  (EXP)
enzyme inhibitor  (EXP)
ethanol  (ISO)
fenamidone  (ISO)
fenofibrate  (EXP)
fenvalerate  (ISO)
flavonoids  (ISO)
flutamide  (ISO)
folic acid  (ISO)
furan  (ISO)
genistein  (EXP)
gentamycin  (ISO)
glafenine  (ISO)
glyphosate  (ISO)
GW 4064  (EXP)
GW 7647  (EXP)
indinavir  (ISO)
indometacin  (EXP,ISO)
inulin  (ISO)
isotretinoin  (EXP)
ivermectin  (EXP)
lamivudine  (ISO)
menadione  (EXP)
methapyrilene  (ISO)
methimazole  (ISO)
microcystin-LR  (ISO)
milrinone  (ISO)
Muraglitazar  (ISO)
NAD zwitterion  (EXP)
NAD(+)  (EXP)
nickel atom  (EXP)
nickel dichloride  (ISO)
niclosamide  (EXP)
nitric oxide  (ISO)
nitrofen  (ISO)
oleic acid  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
pentachlorophenol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
PhIP  (ISO)
pirinixic acid  (ISO)
pravastatin  (ISO)
progesterone  (EXP)
propan-2-ol  (EXP)
resveratrol  (EXP)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (ISO)
saquinavir  (ISO)
SB 431542  (EXP)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
Soman  (ISO)
sulfadimethoxine  (ISO)
tauroursodeoxycholic acid  (ISO)
temozolomide  (EXP)
tert-butyl hydroperoxide  (EXP)
Tesaglitazar  (ISO)
testosterone  (EXP)
tetrachloromethane  (ISO)
tetracycline  (ISO)
thapsigargin  (ISO)
theophylline  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topotecan  (EXP)
tributylstannane  (ISO)
Tributyltin oxide  (ISO)
triptonide  (ISO)
troglitazone  (ISO)
tunicamycin  (EXP)
uranium atom  (EXP)
valproic acid  (EXP)
vincaleukoblastine  (EXP)
zaragozic acid A  (ISO)
zidovudine  (ISO)
zinc atom  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IDA)
mitochondrial matrix  (IEA,TAS)
mitochondrion  (IBA,IDA,IEA,TAS)
nucleoplasm  (IDA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Different forms of obesity as a function of diet composition. Dourmashkin JT, etal., Int J Obes (Lond). 2005 Nov;29(11):1368-78.
2. Serial evaluation of fatty acid metabolism in rats with myocardial infarction by pinhole SPECT. Hirai T, etal., J Nucl Cardiol. 2001 Jul-Aug;8(4):472-81.
3. Effects of streptozotocin diabetes, insulin treatment, and training on the diaphragm. Ianuzzo CD, etal., J Appl Physiol. 1982 Jun;52(6):1471-5.
4. Specificity in beta cell expression of L-3-hydroxyacyl-CoA dehydrogenase, short chain, and potential role in down-regulating insulin release. Martens GA, etal., J Biol Chem. 2007 Jul 20;282(29):21134-44. Epub 2007 May 9.
5. Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation. Molven A, etal., Diabetes. 2004 Jan;53(1):221-7.
6. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
7. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
8. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
9. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
10. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
11. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:975867   PMID:1835339   PMID:8687463   PMID:8825408   PMID:8889548   PMID:9185222   PMID:9716664   PMID:10068455   PMID:10231530   PMID:10347277   PMID:10840044   PMID:10931422  
PMID:11256614   PMID:11451959   PMID:11489939   PMID:12477932   PMID:14702039   PMID:15489334   PMID:16176262   PMID:16344560   PMID:17065362   PMID:18029348   PMID:19318379   PMID:19847302  
PMID:20301549   PMID:20332099   PMID:20562859   PMID:20877624   PMID:20931292   PMID:21252247   PMID:21347589   PMID:21832049   PMID:21873635   PMID:21988832   PMID:21990309   PMID:22271489  
PMID:22583614   PMID:22658674   PMID:23273570   PMID:23842279   PMID:24529757   PMID:24981860   PMID:25921289   PMID:26167880   PMID:26268944   PMID:26316438   PMID:26344197   PMID:26361074  
PMID:27181376   PMID:27503909   PMID:28380382   PMID:28712289   PMID:28973437   PMID:29568061   PMID:31056398   PMID:31298480   PMID:31478661   PMID:31536960   PMID:31560077   PMID:31586073  
PMID:31871319   PMID:32235678   PMID:32614325   PMID:32628020   PMID:32707033   PMID:32876354   PMID:32877691   PMID:33881965   PMID:34079125   PMID:34428256   PMID:34736508   PMID:35032548  
PMID:35256949   PMID:35271311   PMID:35337019   PMID:35530310   PMID:35562734   PMID:35831314   PMID:35918402   PMID:35944360   PMID:36215168   PMID:36239258   PMID:36575184   PMID:37827155  
PMID:38113892  


Genomics

Comparative Map Data
HADH
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384107,989,889 - 108,035,171 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4107,989,714 - 108,035,241 (+)EnsemblGRCh38hg38GRCh38
GRCh374108,911,045 - 108,956,327 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364109,130,389 - 109,175,780 (+)NCBINCBI36Build 36hg18NCBI36
Celera4106,205,689 - 106,251,144 (+)NCBICelera
Cytogenetic Map4q25NCBI
HuRef4104,642,283 - 104,687,973 (+)NCBIHuRef
CHM1_14108,887,327 - 108,932,780 (+)NCBICHM1_1
T2T-CHM13v2.04111,292,223 - 111,337,508 (+)NCBIT2T-CHM13v2.0
Hadh
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm393131,027,068 - 131,065,750 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl3131,027,068 - 131,065,750 (-)EnsemblGRCm39 Ensembl
GRCm383131,233,419 - 131,272,101 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl3131,233,419 - 131,272,101 (-)EnsemblGRCm38mm10GRCm38
MGSCv373130,936,342 - 130,974,955 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv363131,222,610 - 131,261,182 (-)NCBIMGSCv36mm8
Celera3137,754,696 - 137,793,253 (-)NCBICelera
Cytogenetic Map3G3NCBI
cM Map360.86NCBI
Hadh
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82222,462,049 - 222,504,446 (-)NCBIGRCr8
mRatBN7.22219,787,935 - 219,830,335 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2219,787,927 - 219,830,353 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2227,444,166 - 227,486,582 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02225,343,838 - 225,386,248 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02220,201,461 - 220,243,878 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02236,353,445 - 236,395,067 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2236,353,445 - 236,395,067 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02254,902,140 - 254,944,001 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42228,698,545 - 228,751,691 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12228,685,284 - 228,738,431 (-)NCBI
Celera2212,044,254 - 212,086,368 (-)NCBICelera
Cytogenetic Map2q43NCBI
Hadh
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554961,835,034 - 1,861,407 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554961,835,034 - 1,861,410 (-)NCBIChiLan1.0ChiLan1.0
HADH
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v23106,088,578 - 106,133,957 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan14106,383,480 - 106,428,851 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v04100,495,205 - 100,540,589 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.14111,067,537 - 111,112,945 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl4111,067,336 - 111,113,868 (+)Ensemblpanpan1.1panPan2
HADH
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13228,460,445 - 28,506,141 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3228,460,193 - 28,531,280 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3213,516,288 - 13,562,132 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03228,689,480 - 28,735,351 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3228,689,484 - 28,780,497 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13228,682,743 - 28,728,360 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03228,427,283 - 28,473,178 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03211,383,587 - 11,429,427 (-)NCBIUU_Cfam_GSD_1.0
Hadh
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530112,605,927 - 12,654,203 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936818575,023 - 623,568 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936818575,272 - 623,496 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HADH
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl8113,950,034 - 114,005,511 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.18113,952,561 - 114,005,510 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.28122,212,898 - 122,265,850 (-)NCBISscrofa10.2Sscrofa10.2susScr3
HADH
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1755,919,499 - 55,965,074 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl755,919,623 - 55,964,857 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603734,546,087 - 34,591,597 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Hadh
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248301,426,775 - 1,451,440 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248301,429,989 - 1,451,447 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in HADH
181 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005327.7(HADH):c.706C>T (p.Arg236Ter) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003460539]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV000032678]|not provided [RCV001781331] Chr4:108027757 [GRCh38]
Chr4:108948913 [GRCh37]
Chr4:4q25
pathogenic|likely pathogenic
NC_000004.12:g.107986495_107992009del deletion Hyperinsulinemic hypoglycemia, familial, 4 [RCV000032679] Chr4:107986493..107992007 [GRCh38]
Chr4:108907649..108913163 [GRCh37]
Chr4:4q25
pathogenic
NM_005327.7(HADH):c.636+471G>T single nucleotide variant Hyperinsulinemic hypoglycemia, familial, 4 [RCV000032680] Chr4:108024034 [GRCh38]
Chr4:108945190 [GRCh37]
Chr4:4q25
pathogenic
NM_005327.7(HADH):c.118G>A (p.Ala40Thr) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000008482]|Hyperinsulinemic hypoglycemia [RCV003221346] Chr4:107990050 [GRCh38]
Chr4:108911206 [GRCh37]
Chr4:4q25
pathogenic|likely risk allele
NM_005327.7(HADH):c.171C>A (p.Asp57Glu) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000008483]|Hyperinsulinemic hypoglycemia [RCV003221347]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV001762038] Chr4:108009797 [GRCh38]
Chr4:108930953 [GRCh37]
Chr4:4q25
pathogenic|uncertain risk allele|uncertain significance
NM_005327.7(HADH):c.773C>T (p.Pro258Leu) single nucleotide variant Hyperinsulinemic hypoglycemia, familial, 4 [RCV000008484] Chr4:108033239 [GRCh38]
Chr4:108954395 [GRCh37]
Chr4:4q25
pathogenic
NM_005327.7(HADH):c.547-3_549del deletion Hyperinsulinemic hypoglycemia, familial, 4 [RCV000008485] Chr4:108023469..108023474 [GRCh38]
Chr4:108944625..108944630 [GRCh37]
Chr4:4q25
pathogenic
NM_005327.4(HADH):c.132+1001C>G single nucleotide variant Lung cancer [RCV000093933] Chr4:107991065 [GRCh38]
Chr4:108912221 [GRCh37]
Chr4:4q25
uncertain significance
GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3 copy number gain See cases [RCV000051776] Chr4:96092893..136410207 [GRCh38]
Chr4:97014044..137331362 [GRCh37]
Chr4:97233067..137550812 [NCBI36]
Chr4:4q22.3-28.3
pathogenic
GRCh38/hg38 4q24-25(chr4:105778347-110206873)x3 copy number gain See cases [RCV000051777] Chr4:105778347..110206873 [GRCh38]
Chr4:106699504..111128029 [GRCh37]
Chr4:106918953..111347478 [NCBI36]
Chr4:4q24-25
pathogenic
GRCh38/hg38 4q22.2-32.3(chr4:92913386-165299707)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|See cases [RCV000051775] Chr4:92913386..165299707 [GRCh38]
Chr4:93834537..166220859 [GRCh37]
Chr4:94053560..166440309 [NCBI36]
Chr4:4q22.2-32.3
pathogenic
NM_005327.7(HADH):c.643C>A (p.Pro215Thr) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000764523]|Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001082981]|Hyperinsulinemic hypoglycemia [RCV003222089]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV001145823]|Monogenic diabetes [RCV000664101]|not provided [RCV000872937]|not specified [RCV001816664] Chr4:108027694 [GRCh38]
Chr4:108948850 [GRCh37]
Chr4:4q25
likely benign|conflicting interpretations of pathogenicity|uncertain risk allele|uncertain significance
NM_005327.7(HADH):c.257T>C (p.Leu86Pro) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001513868]|not specified [RCV000153344] Chr4:108009883 [GRCh38]
Chr4:108931039 [GRCh37]
Chr4:4q25
benign
NM_005327.7(HADH):c.132+7G>T single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001148479]|Hyperinsulinemic hypoglycemia [RCV003221350]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV001148478]|not specified [RCV000192445] Chr4:107990071 [GRCh38]
Chr4:108911227 [GRCh37]
Chr4:4q25
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005327.7(HADH):c.579A>G (p.Thr193=) single nucleotide variant Hyperinsulinemic hypoglycemia [RCV003221848]|not specified [RCV000192759] Chr4:108023506 [GRCh38]
Chr4:108944662 [GRCh37]
Chr4:4q25
benign|likely benign|uncertain significance
NM_005327.7(HADH):c.275T>G (p.Phe92Cys) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001084975]|Hyperinsulinemic hypoglycemia [RCV003221847]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV001143927]|Monogenic diabetes [RCV000664099]|not provided [RCV000224208]|not specified [RCV000193662] Chr4:108014444 [GRCh38]
Chr4:108935600 [GRCh37]
Chr4:4q25
likely risk allele|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005327.7(HADH):c.486A>G (p.Arg162=) single nucleotide variant Hyperinsulinemic hypoglycemia [RCV003221837]|not provided [RCV000178240] Chr4:108019606 [GRCh38]
Chr4:108940762 [GRCh37]
Chr4:4q25
benign|likely benign|uncertain significance
NM_005327.7(HADH):c.676T>C (p.Tyr226His) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000194052]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV001762415] Chr4:108027727 [GRCh38]
Chr4:108948883 [GRCh37]
Chr4:4q25
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_005327.7(HADH):c.456G>T (p.Gln152His) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000764522]|Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001086439]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV001143929]|Monogenic diabetes [RCV000664100]|not provided [RCV000757347]|not specified [RCV000194877] Chr4:108019576 [GRCh38]
Chr4:108940732 [GRCh37]
Chr4:4q25
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005327.7(HADH):c.*109T>A single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000263458]|Hyperinsulinemic hypoglycemia [RCV003221950]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV000355889]|not provided [RCV001636966] Chr4:108034466 [GRCh38]
Chr4:108955622 [GRCh37]
Chr4:4q25
benign|likely benign
NM_005327.4(HADH):c.-193G>A single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000336235]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV000281233]|not provided [RCV001653673] Chr4:107989740 [GRCh38]
Chr4:108910896 [GRCh37]
Chr4:4q25
benign|likely benign
NM_005327.7(HADH):c.-36C>T single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000274359]|Hyperinsulinemic hypoglycemia [RCV003221300]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV000320124] Chr4:107989897 [GRCh38]
Chr4:108911053 [GRCh37]
Chr4:4q25
likely benign|uncertain significance
NM_005327.7(HADH):c.240G>A (p.Lys80=) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000339159]|Hyperinsulinemic hypoglycemia [RCV003221353]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV000284074] Chr4:108009866 [GRCh38]
Chr4:108931022 [GRCh37]
Chr4:4q25
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005327.7(HADH):c.636+13G>A single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000344444]|Hyperinsulinemic hypoglycemia, familial, 1 [RCV002463669]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV000404211]|not provided [RCV001539407]|not specified [RCV000247839] Chr4:108023576 [GRCh38]
Chr4:108944732 [GRCh37]
Chr4:4q25
benign|likely benign
NM_005327.4(HADH):c.-65G>A single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000308496]|Hyperinsulinemic hypoglycemia [RCV003221297]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV000272026]|not provided [RCV001591005] Chr4:107989868 [GRCh38]
Chr4:108911024 [GRCh37]
Chr4:4q25
benign|likely benign
NM_005327.7(HADH):c.*600C>T single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000266633]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV000324098] Chr4:108034957 [GRCh38]
Chr4:108956113 [GRCh37]
Chr4:4q25
conflicting interpretations of pathogenicity|uncertain significance
NM_005327.4(HADH):c.-51delC deletion Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000363186]|Hyperinsulinemic hypoglycemia [RCV003221298]|Hyperinsulinism, Dominant/Recessive [RCV000277767]|not specified [RCV002248623] Chr4:107989882 [GRCh38]
Chr4:108911038 [GRCh37]
Chr4:4q25
uncertain risk allele|uncertain significance
NM_005327.7(HADH):c.889G>A (p.Val297Ile) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000371008]|Hyperinsulinemic hypoglycemia [RCV003221948]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV000314001] Chr4:108034301 [GRCh38]
Chr4:108955457 [GRCh37]
Chr4:4q25
uncertain risk allele|uncertain significance
NM_005327.7(HADH):c.-38T>C single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000387551]|Hyperinsulinemic hypoglycemia [RCV003221299]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV000333105]|not provided [RCV001660727] Chr4:107989895 [GRCh38]
Chr4:108911051 [GRCh37]
Chr4:4q25
benign|likely benign
NM_005327.7(HADH):c.*305T>A single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000354558]|Hyperinsulinemic hypoglycemia [RCV003221951]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV000316039] Chr4:108034662 [GRCh38]
Chr4:108955818 [GRCh37]
Chr4:4q25
likely benign|uncertain significance
NM_005327.4(HADH):c.-71C>T single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000366276]|Hyperinsulinemic hypoglycemia [RCV003221296]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV000302264] Chr4:107989862 [GRCh38]
Chr4:108911018 [GRCh37]
Chr4:4q25
benign|likely benign
NM_005327.4(HADH):c.-115delG deletion Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000405942]|Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002488759]|Hyperinsulinemic hypoglycemia [RCV003221294]|Hyperinsulinism, Dominant/Recessive [RCV000305842] Chr4:107989818 [GRCh38]
Chr4:108910974 [GRCh37]
Chr4:4q25
uncertain risk allele|uncertain significance
NM_005327.4(HADH):c.-102G>A single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000341903]|Hyperinsulinemic hypoglycemia [RCV003221295]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV000395285]|not provided [RCV002512078] Chr4:107989831 [GRCh38]
Chr4:108910987 [GRCh37]
Chr4:4q25
benign|likely benign|uncertain significance
NM_005327.7(HADH):c.72G>A (p.Lys24=) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000378436]|Hyperinsulinemic hypoglycemia [RCV003221352]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV000342506] Chr4:107990004 [GRCh38]
Chr4:108911160 [GRCh37]
Chr4:4q25
likely benign|uncertain significance
NM_005327.7(HADH):c.291G>T (p.Leu97=) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000405760]|Hyperinsulinemic hypoglycemia [RCV003221947]|Hyperinsulinism, Dominant/Recessive [RCV000310617] Chr4:108014460 [GRCh38]
Chr4:108935616 [GRCh37]
Chr4:4q25
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005327.4(HADH):c.*818A>G single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000327724]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV000384606] Chr4:108035175 [GRCh38]
Chr4:108956331 [GRCh37]
Chr4:4q25
benign|likely benign
NM_005327.7(HADH):c.*59G>A single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000393352]|Hyperinsulinemic hypoglycemia [RCV003221949]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV000312670] Chr4:108034416 [GRCh38]
Chr4:108955572 [GRCh37]
Chr4:4q25
likely benign|uncertain significance
NM_005327.7(HADH):c.21G>A (p.Gln7=) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000372649]|Hyperinsulinemic hypoglycemia [RCV003221351]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV000278031] Chr4:107989953 [GRCh38]
Chr4:108911109 [GRCh37]
Chr4:4q25
likely benign|uncertain significance
NM_005327.4(HADH):c.-195A>C single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000293533]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV000387801] Chr4:107989738 [GRCh38]
Chr4:108910894 [GRCh37]
Chr4:4q25
uncertain significance
NM_005327.4(HADH):c.-195A>G single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000375121]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV000348454] Chr4:107989738 [GRCh38]
Chr4:108910894 [GRCh37]
Chr4:4q25
uncertain significance
NM_005327.7(HADH):c.*661dup duplication Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000376602]|Hyperinsulinism, Dominant/Recessive [RCV000284469] Chr4:108035012..108035013 [GRCh38]
Chr4:108956168..108956169 [GRCh37]
Chr4:4q25
uncertain significance
NM_005327.7(HADH):c.349G>T (p.Val117Leu) single nucleotide variant Abnormal brain morphology [RCV000454321] Chr4:108014518 [GRCh38]
Chr4:108935674 [GRCh37]
Chr4:4q25
likely pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
NM_005327.7(HADH):c.881A>G (p.Asn294Ser) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000865133]|Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002481352]|Hyperinsulinemic hypoglycemia [RCV003221981]|Monogenic diabetes [RCV000445389]|not provided [RCV001653781]|not specified [RCV000502882] Chr4:108034293 [GRCh38]
Chr4:108955449 [GRCh37]
Chr4:4q25
benign|likely benign|uncertain risk allele
NM_005327.7(HADH):c.662G>A (p.Arg221His) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000764524]|Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001084606]|Hyperinsulinemic hypoglycemia [RCV003221980]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV001145824]|Monogenic diabetes [RCV000445511]|not provided [RCV000521350]|not specified [RCV001821213] Chr4:108027713 [GRCh38]
Chr4:108948869 [GRCh37]
Chr4:4q25
likely pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
NM_005327.7(HADH):c.374_375insTTCA (p.Lys125fs) insertion Hyperinsulinemic hypoglycemia [RCV003222004]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV001764478]|not provided [RCV000498051] Chr4:108014542..108014543 [GRCh38]
Chr4:108935698..108935699 [GRCh37]
Chr4:4q25
pathogenic|likely pathogenic|uncertain significance
NM_005327.7(HADH):c.419+39del deletion Hyperinsulinemic hypoglycemia [RCV003222009]|not specified [RCV000500776] Chr4:108014613 [GRCh38]
Chr4:108935769 [GRCh37]
Chr4:4q25
likely benign|uncertain significance
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 copy number gain See cases [RCV000510970] Chr4:93071152..190957473 [GRCh37]
Chr4:4q22.1-35.2
pathogenic
NM_005327.7(HADH):c.257= (p.Leu86=) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000530765] Chr4:108009883 [GRCh38]
Chr4:108931039 [GRCh37]
Chr4:4q25
benign
NM_005327.7(HADH):c.517A>C (p.Asn173His) single nucleotide variant Inborn genetic diseases [RCV003300570] Chr4:108019637 [GRCh38]
Chr4:108940793 [GRCh37]
Chr4:4q25
uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q24-25(chr4:105039193-110409978)x3 copy number gain not provided [RCV000743885] Chr4:105039193..110409978 [GRCh37]
Chr4:4q24-25
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
NC_000004.12:g.107989685C>A single nucleotide variant not provided [RCV001724579] Chr4:107989685 [GRCh38]
Chr4:108910841 [GRCh37]
Chr4:4q25
benign
NM_005327.7(HADH):c.547-51C>T single nucleotide variant not provided [RCV001678946] Chr4:108023423 [GRCh38]
Chr4:108944579 [GRCh37]
Chr4:4q25
benign
NM_005327.7(HADH):c.710-240T>C single nucleotide variant not provided [RCV001668762] Chr4:108032936 [GRCh38]
Chr4:108954092 [GRCh37]
Chr4:4q25
benign
NM_005327.7(HADH):c.710-319C>G single nucleotide variant not provided [RCV001669146] Chr4:108032857 [GRCh38]
Chr4:108954013 [GRCh37]
Chr4:4q25
benign
NM_005327.7(HADH):c.636+385A>G single nucleotide variant not provided [RCV001693237] Chr4:108023948 [GRCh38]
Chr4:108945104 [GRCh37]
Chr4:4q25
benign
NM_005327.7(HADH):c.261+1G>A single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000987461]|Hyperinsulinemic hypoglycemia [RCV003221307]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV001766803] Chr4:108009888 [GRCh38]
Chr4:108931044 [GRCh37]
Chr4:4q25
pathogenic|likely pathogenic
NM_005327.7(HADH):c.132+6C>G single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001148477]|Hyperinsulinemic hypoglycemia [RCV003221360]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV001148476] Chr4:107990070 [GRCh38]
Chr4:108911226 [GRCh37]
Chr4:4q25
likely benign|uncertain significance
NM_005327.7(HADH):c.159A>G (p.Val53=) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001148482]|Hyperinsulinemic hypoglycemia [RCV003221362]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV001148483] Chr4:108009785 [GRCh38]
Chr4:108930941 [GRCh37]
Chr4:4q25
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005327.7(HADH):c.825T>G (p.Asp275Glu) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001148594]|Hyperinsulinemic hypoglycemia [RCV003222235]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV001148595] Chr4:108033291 [GRCh38]
Chr4:108954447 [GRCh37]
Chr4:4q25
likely benign|uncertain significance
NM_005327.4(HADH):c.-112C>T single nucleotide variant not provided [RCV003435128] Chr4:107989821 [GRCh38]
Chr4:108910977 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.710-14C>T single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001145827]|Hyperinsulinemic hypoglycemia [RCV003222232]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV001145828] Chr4:108033162 [GRCh38]
Chr4:108954318 [GRCh37]
Chr4:4q25
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005327.7(HADH):c.827-10C>T single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001421184]|Hyperinsulinemic hypoglycemia [RCV003222174] Chr4:108034229 [GRCh38]
Chr4:108955385 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.384C>T (p.Asn128=) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001506288]|Hyperinsulinemic hypoglycemia [RCV003222177] Chr4:108014553 [GRCh38]
Chr4:108935709 [GRCh37]
Chr4:4q25
benign|likely benign
NM_005327.7(HADH):c.795C>T (p.Val265=) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002540969]|Hyperinsulinemic hypoglycemia [RCV003222173] Chr4:108033261 [GRCh38]
Chr4:108954417 [GRCh37]
Chr4:4q25
benign|likely benign
NM_005327.7(HADH):c.614G>C (p.Gly205Ala) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000875947]|Hyperinsulinemic hypoglycemia [RCV003222160]|Monogenic diabetes [RCV001174482]|not specified [RCV001817035] Chr4:108023541 [GRCh38]
Chr4:108944697 [GRCh37]
Chr4:4q25
likely benign|uncertain risk allele|uncertain significance
NM_005327.7(HADH):c.266G>A (p.Gly89Asp) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000793783]|Hyperinsulinemic hypoglycemia [RCV003221357] Chr4:108014435 [GRCh38]
Chr4:108935591 [GRCh37]
Chr4:4q25
uncertain risk allele|uncertain significance
NM_005327.7(HADH):c.100G>C (p.Gly34Arg) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000816566]|Hyperinsulinemic hypoglycemia [RCV003221358]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV002470991] Chr4:107990032 [GRCh38]
Chr4:108911188 [GRCh37]
Chr4:4q25
likely pathogenic|uncertain significance
NM_005327.7(HADH):c.908G>T (p.Gly303Val) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000801921]|Hyperinsulinemic hypoglycemia [RCV003222134]|not provided [RCV001577280]|not specified [RCV003387933] Chr4:108034320 [GRCh38]
Chr4:108955476 [GRCh37]
Chr4:4q25
pathogenic|likely risk allele|uncertain significance
NM_005327.7(HADH):c.349G>C (p.Val117Leu) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000808541]|Hyperinsulinemic hypoglycemia [RCV003222136]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV001143928]|not provided [RCV003437431] Chr4:108014518 [GRCh38]
Chr4:108935674 [GRCh37]
Chr4:4q25
uncertain significance
NM_005327.7(HADH):c.494G>A (p.Arg165Gln) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001067135]|Hyperinsulinemic hypoglycemia [RCV003222215] Chr4:108019614 [GRCh38]
Chr4:108940770 [GRCh37]
Chr4:4q25
uncertain risk allele|uncertain significance
Single allele duplication not provided [RCV000845097] Chr4:108641272..109259781 [GRCh37]
Chr4:4q25
not provided
NM_005327.7(HADH):c.809C>T (p.Thr270Met) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001148590]|Hyperinsulinemic hypoglycemia [RCV003222233]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV001148591] Chr4:108033275 [GRCh38]
Chr4:108954431 [GRCh37]
Chr4:4q25
uncertain risk allele|uncertain significance
NM_005327.7(HADH):c.823G>A (p.Asp275Asn) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001148593]|Hyperinsulinemic hypoglycemia [RCV003222234]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV001148592]|Inborn genetic diseases [RCV002557184] Chr4:108033289 [GRCh38]
Chr4:108954445 [GRCh37]
Chr4:4q25
uncertain risk allele|uncertain significance
NM_005327.7(HADH):c.*383G>C single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001145933]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV001145932] Chr4:108034740 [GRCh38]
Chr4:108955896 [GRCh37]
Chr4:4q25
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005327.7(HADH):c.*168A>T single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001150165]|Hyperinsulinemic hypoglycemia [RCV003222237]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV001150164] Chr4:108034525 [GRCh38]
Chr4:108955681 [GRCh37]
Chr4:4q25
likely benign|uncertain significance
NM_005327.7(HADH):c.361G>A (p.Val121Met) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001873642]|Hyperinsulinemic hypoglycemia [RCV003222244]|Monogenic diabetes [RCV001174481] Chr4:108014530 [GRCh38]
Chr4:108935686 [GRCh37]
Chr4:4q25
uncertain risk allele|uncertain significance
NM_005327.7(HADH):c.262-34G>A single nucleotide variant not provided [RCV001576048] Chr4:108014397 [GRCh38]
Chr4:108935553 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.661C>T (p.Arg221Cys) single nucleotide variant Inborn genetic diseases [RCV003241325] Chr4:108027712 [GRCh38]
Chr4:108948868 [GRCh37]
Chr4:4q25
uncertain significance
NM_005327.7(HADH):c.710-1045_710-1041del microsatellite not provided [RCV001647896] Chr4:108032126..108032130 [GRCh38]
Chr4:108953282..108953286 [GRCh37]
Chr4:4q25
benign
NM_005327.7(HADH):c.419+226C>G single nucleotide variant not provided [RCV001534874] Chr4:108014814 [GRCh38]
Chr4:108935970 [GRCh37]
Chr4:4q25
benign
NM_005327.7(HADH):c.261+161A>G single nucleotide variant not provided [RCV001580986] Chr4:108010048 [GRCh38]
Chr4:108931204 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.710-656T>A single nucleotide variant not provided [RCV001710178] Chr4:108032520 [GRCh38]
Chr4:108953676 [GRCh37]
Chr4:4q25
benign
NM_005327.7(HADH):c.636+351C>A single nucleotide variant not provided [RCV001674533] Chr4:108023914 [GRCh38]
Chr4:108945070 [GRCh37]
Chr4:4q25
benign
NM_005327.7(HADH):c.636+315A>G single nucleotide variant not provided [RCV001557626] Chr4:108023878 [GRCh38]
Chr4:108945034 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.324C>T (p.Ser108=) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002066024]|Hyperinsulinemic hypoglycemia [RCV003222175] Chr4:108014493 [GRCh38]
Chr4:108935649 [GRCh37]
Chr4:4q25
benign|likely benign
NM_005327.7(HADH):c.99C>G (p.Ile33Met) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000875072]|Hyperinsulinemic hypoglycemia [RCV003221359] Chr4:107990031 [GRCh38]
Chr4:108911187 [GRCh37]
Chr4:4q25
likely risk allele|likely benign
NM_005327.7(HADH):c.479C>T (p.Thr160Ile) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001071323]|Hyperinsulinemic hypoglycemia [RCV003222218] Chr4:108019599 [GRCh38]
Chr4:108940755 [GRCh37]
Chr4:4q25
uncertain risk allele|uncertain significance
NM_005327.7(HADH):c.-34C>T single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001145717]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV001145718] Chr4:107989899 [GRCh38]
Chr4:108911055 [GRCh37]
Chr4:4q25
uncertain significance
NM_005327.7(HADH):c.688G>A (p.Ala230Thr) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001145825]|Hyperinsulinemic hypoglycemia [RCV003222231]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV001145826] Chr4:108027739 [GRCh38]
Chr4:108948895 [GRCh37]
Chr4:4q25
likely pathogenic|uncertain significance
NM_005327.7(HADH):c.47C>T (p.Ser16Phe) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001873641]|Hyperinsulinemic hypoglycemia [RCV003221364]|Monogenic diabetes [RCV001174480] Chr4:107989979 [GRCh38]
Chr4:108911135 [GRCh37]
Chr4:4q25
uncertain risk allele|uncertain significance
NM_005327.7(HADH):c.617del (p.Lys206fs) deletion Hyperinsulinemic hypoglycemia [RCV003222221]|not provided [RCV001090884] Chr4:108023542 [GRCh38]
Chr4:108944698 [GRCh37]
Chr4:4q25
pathogenic|uncertain significance
NM_005327.7(HADH):c.*335C>A single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001144026]|Hyperinsulinemic hypoglycemia [RCV003222229]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV001144025] Chr4:108034692 [GRCh38]
Chr4:108955848 [GRCh37]
Chr4:4q25
likely benign|uncertain significance
NM_005327.7(HADH):c.*377G>A single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001144027]|Hyperinsulinemic hypoglycemia [RCV003222230]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV001144028] Chr4:108034734 [GRCh38]
Chr4:108955890 [GRCh37]
Chr4:4q25
likely benign|uncertain significance
NM_005327.7(HADH):c.696G>A (p.Arg232=) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002544502]|Hyperinsulinemic hypoglycemia [RCV003222176] Chr4:108027747 [GRCh38]
Chr4:108948903 [GRCh37]
Chr4:4q25
likely benign|uncertain significance
NM_005327.7(HADH):c.587del (p.Ser196fs) deletion Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000987462]|Hyperinsulinemic hypoglycemia [RCV003221308]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV001766804] Chr4:108023514 [GRCh38]
Chr4:108944670 [GRCh37]
Chr4:4q25
pathogenic|likely pathogenic|likely risk allele|uncertain risk allele
NM_005327.7(HADH):c.261+135C>T single nucleotide variant not provided [RCV001592067] Chr4:108010022 [GRCh38]
Chr4:108931178 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.419+21C>A single nucleotide variant not provided [RCV001657208] Chr4:108014609 [GRCh38]
Chr4:108935765 [GRCh37]
Chr4:4q25
benign
NM_005327.7(HADH):c.132+89A>G single nucleotide variant not provided [RCV001581374] Chr4:107990153 [GRCh38]
Chr4:108911309 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.133-304A>G single nucleotide variant not provided [RCV001698519] Chr4:108009455 [GRCh38]
Chr4:108930611 [GRCh37]
Chr4:4q25
benign
NM_005327.7(HADH):c.636+127A>G single nucleotide variant not provided [RCV001677364] Chr4:108023690 [GRCh38]
Chr4:108944846 [GRCh37]
Chr4:4q25
benign
NM_005327.4(HADH):c.-56C>A single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001145595]|Hyperinsulinemic hypoglycemia [RCV003221310]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV001145596] Chr4:107989877 [GRCh38]
Chr4:108911033 [GRCh37]
Chr4:4q25
benign|uncertain significance
NM_005327.7(HADH):c.636+102C>T single nucleotide variant not provided [RCV001684038] Chr4:108023665 [GRCh38]
Chr4:108944821 [GRCh37]
Chr4:4q25
benign
NM_005327.7(HADH):c.827-245C>T single nucleotide variant not provided [RCV001651544] Chr4:108033994 [GRCh38]
Chr4:108955150 [GRCh37]
Chr4:4q25
benign
NM_005327.7(HADH):c.261+107dup duplication not provided [RCV001533807] Chr4:108009977..108009978 [GRCh38]
Chr4:108931133..108931134 [GRCh37]
Chr4:4q25
benign
NM_005327.7(HADH):c.419+127G>A single nucleotide variant not provided [RCV001713598] Chr4:108014715 [GRCh38]
Chr4:108935871 [GRCh37]
Chr4:4q25
benign
NM_005327.4(HADH):c.-203A>G single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001148371]|Hyperinsulinemic hypoglycemia [RCV003221311]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV001148372] Chr4:107989730 [GRCh38]
Chr4:108910886 [GRCh37]
Chr4:4q25
likely benign|uncertain significance
NM_005327.7(HADH):c.133-15C>T single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001148480]|Hyperinsulinemic hypoglycemia [RCV003221361]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV001148481]|not provided [RCV001664707] Chr4:108009744 [GRCh38]
Chr4:108930900 [GRCh37]
Chr4:4q25
benign|likely benign|uncertain significance
NM_005327.4(HADH):c.-86G>T single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001149933]|Hyperinsulinemic hypoglycemia [RCV003221312]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV001149932] Chr4:107989847 [GRCh38]
Chr4:108911003 [GRCh37]
Chr4:4q25
likely benign|uncertain significance
NM_005327.7(HADH):c.*142G>A single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001150163]|Hyperinsulinemic hypoglycemia [RCV003222236]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV001150162] Chr4:108034499 [GRCh38]
Chr4:108955655 [GRCh37]
Chr4:4q25
likely benign|uncertain significance
NM_005327.7(HADH):c.*514A>G single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001145935]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV001145934] Chr4:108034871 [GRCh38]
Chr4:108956027 [GRCh37]
Chr4:4q25
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005327.7(HADH):c.380A>G (p.Lys127Arg) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001236441]|Hyperinsulinemic hypoglycemia [RCV003222269] Chr4:108014549 [GRCh38]
Chr4:108935705 [GRCh37]
Chr4:4q25
likely pathogenic|uncertain significance
NM_005327.7(HADH):c.264C>T (p.Ala88=) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001150055]|Hyperinsulinemic hypoglycemia [RCV003221363]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV001150056] Chr4:108014433 [GRCh38]
Chr4:108935589 [GRCh37]
Chr4:4q25
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005327.7(HADH):c.710-845C>G single nucleotide variant Hyperinsulinemic hypoglycemia [RCV003222245]|Monogenic diabetes [RCV001174483] Chr4:108032331 [GRCh38]
Chr4:108953487 [GRCh37]
Chr4:4q25
benign|uncertain significance
NM_005327.7(HADH):c.*279C>A single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001144023]|Hyperinsulinemic hypoglycemia [RCV003222228]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV001144024] Chr4:108034636 [GRCh38]
Chr4:108955792 [GRCh37]
Chr4:4q25
likely benign|uncertain significance
NM_005327.7(HADH):c.820G>A (p.Val274Met) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001325202]|Hyperinsulinemic hypoglycemia [RCV003222305] Chr4:108033286 [GRCh38]
Chr4:108954442 [GRCh37]
Chr4:4q25
likely benign|uncertain significance
NC_000004.11:g.(?_108911069)_(108955533_?)dup duplication Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001319821] Chr4:108911069..108955533 [GRCh37]
Chr4:4q25
uncertain significance
NM_005327.7(HADH):c.710-822C>A single nucleotide variant Hyperinsulinemic hypoglycemia, familial, 4 [RCV001761396] Chr4:108032354 [GRCh38]
Chr4:108953510 [GRCh37]
Chr4:4q25
pathogenic|uncertain significance
NM_005327.7(HADH):c.280G>C (p.Glu94Gln) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001302501]|Hyperinsulinemic hypoglycemia [RCV003222296] Chr4:108014449 [GRCh38]
Chr4:108935605 [GRCh37]
Chr4:4q25
likely pathogenic|uncertain significance
NM_005327.7(HADH):c.827-4A>C single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001412479] Chr4:108034235 [GRCh38]
Chr4:108955391 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.112A>G (p.Met38Val) single nucleotide variant not provided [RCV001356713] Chr4:107990044 [GRCh38]
Chr4:108911200 [GRCh37]
Chr4:4q25
uncertain significance
NM_005327.7(HADH):c.863A>C (p.Gln288Pro) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001370063] Chr4:108034275 [GRCh38]
Chr4:108955431 [GRCh37]
Chr4:4q25
uncertain significance
NM_005327.7(HADH):c.725A>G (p.Glu242Gly) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001300175]|Hyperinsulinemic hypoglycemia [RCV003222294] Chr4:108033191 [GRCh38]
Chr4:108954347 [GRCh37]
Chr4:4q25
likely risk allele|uncertain significance
NM_005327.7(HADH):c.761A>G (p.Tyr254Cys) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001306539]|Hyperinsulinemic hypoglycemia [RCV003222299] Chr4:108033227 [GRCh38]
Chr4:108954383 [GRCh37]
Chr4:4q25
likely risk allele|uncertain significance
NM_005327.7(HADH):c.740C>T (p.Ala247Val) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001304594]|Hyperinsulinemic hypoglycemia [RCV003222297] Chr4:108033206 [GRCh38]
Chr4:108954362 [GRCh37]
Chr4:4q25
uncertain risk allele|uncertain significance
NM_005327.7(HADH):c.255C>T (p.Asn85=) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001458375] Chr4:108009881 [GRCh38]
Chr4:108931037 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.99C>T (p.Ile33=) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001466383] Chr4:107990031 [GRCh38]
Chr4:108911187 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.237G>A (p.Lys79=) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001463559] Chr4:108009863 [GRCh38]
Chr4:108931019 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.419+26T>C single nucleotide variant not provided [RCV001716721] Chr4:108014614 [GRCh38]
Chr4:108935770 [GRCh37]
Chr4:4q25
benign
NM_005327.7(HADH):c.827-275G>T single nucleotide variant not provided [RCV001698564] Chr4:108033964 [GRCh38]
Chr4:108955120 [GRCh37]
Chr4:4q25
benign
NM_005327.7(HADH):c.419+57T>A single nucleotide variant not provided [RCV001592563] Chr4:108014645 [GRCh38]
Chr4:108935801 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.710-262G>A single nucleotide variant not provided [RCV001672217] Chr4:108032914 [GRCh38]
Chr4:108954070 [GRCh37]
Chr4:4q25
benign
NM_005327.7(HADH):c.261+16C>T single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001513223] Chr4:108009903 [GRCh38]
Chr4:108931059 [GRCh37]
Chr4:4q25
benign
NM_005327.7(HADH):c.144A>C (p.Ala48=) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001402351]|not provided [RCV001552038] Chr4:108009770 [GRCh38]
Chr4:108930926 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.133-1G>A single nucleotide variant not provided [RCV001783412] Chr4:108009758 [GRCh38]
Chr4:108930914 [GRCh37]
Chr4:4q25
pathogenic
NM_005327.7(HADH):c.406A>G (p.Lys136Glu) single nucleotide variant Hyperinsulinemic hypoglycemia, familial, 4 [RCV001761395] Chr4:108014575 [GRCh38]
Chr4:108935731 [GRCh37]
Chr4:4q25
uncertain significance
NM_005327.7(HADH):c.907G>A (p.Gly303Ser) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002540457]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV001761397] Chr4:108034319 [GRCh38]
Chr4:108955475 [GRCh37]
Chr4:4q25
uncertain significance
NM_005327.7(HADH):c.707G>A (p.Arg236Gln) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001968716] Chr4:108027758 [GRCh38]
Chr4:108948914 [GRCh37]
Chr4:4q25
uncertain significance
GRCh37/hg19 4q22.3-25(chr4:95490755-109977216)x3 copy number gain not provided [RCV001827745] Chr4:95490755..109977216 [GRCh37]
Chr4:4q22.3-25
likely pathogenic
NM_005327.7(HADH):c.643C>T (p.Pro215Ser) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001927759]|not provided [RCV002275278] Chr4:108027694 [GRCh38]
Chr4:108948850 [GRCh37]
Chr4:4q25
uncertain significance
GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3 copy number gain not provided [RCV001827738] Chr4:52866944..143582507 [GRCh37]
Chr4:4q12-31.21
pathogenic
NM_005327.7(HADH):c.283A>G (p.Lys95Glu) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001890103] Chr4:108014452 [GRCh38]
Chr4:108935608 [GRCh37]
Chr4:4q25
uncertain significance
NM_005327.7(HADH):c.806C>G (p.Thr269Ser) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001908780]|Inborn genetic diseases [RCV002555309] Chr4:108033272 [GRCh38]
Chr4:108954428 [GRCh37]
Chr4:4q25
uncertain significance
NM_005327.7(HADH):c.715G>T (p.Ala239Ser) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001946292]|not provided [RCV003313252] Chr4:108033181 [GRCh38]
Chr4:108954337 [GRCh37]
Chr4:4q25
uncertain significance
NM_005327.7(HADH):c.449C>T (p.Ser150Phe) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002006585] Chr4:108019569 [GRCh38]
Chr4:108940725 [GRCh37]
Chr4:4q25
uncertain significance
GRCh37/hg19 4q24-31.21(chr4:104715235-145252595) copy number gain not specified [RCV002053446] Chr4:104715235..145252595 [GRCh37]
Chr4:4q24-31.21
pathogenic
NM_005327.7(HADH):c.325G>A (p.Val109Ile) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002041012] Chr4:108014494 [GRCh38]
Chr4:108935650 [GRCh37]
Chr4:4q25
uncertain significance
NM_005327.7(HADH):c.805A>G (p.Thr269Ala) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001881631] Chr4:108033271 [GRCh38]
Chr4:108954427 [GRCh37]
Chr4:4q25
uncertain significance
NM_005327.7(HADH):c.126T>G (p.Ile42Met) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001972000]|Inborn genetic diseases [RCV003264292] Chr4:107990058 [GRCh38]
Chr4:108911214 [GRCh37]
Chr4:4q25
uncertain significance
NM_005327.7(HADH):c.100G>A (p.Gly34Ser) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001919756] Chr4:107990032 [GRCh38]
Chr4:108911188 [GRCh37]
Chr4:4q25
uncertain significance
NM_005327.7(HADH):c.757G>A (p.Gly253Ser) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001951724] Chr4:108033223 [GRCh38]
Chr4:108954379 [GRCh37]
Chr4:4q25
uncertain significance
NM_005327.7(HADH):c.8T>C (p.Phe3Ser) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001924631] Chr4:107989940 [GRCh38]
Chr4:108911096 [GRCh37]
Chr4:4q25
uncertain significance
NM_005327.7(HADH):c.817A>G (p.Ile273Val) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001939288] Chr4:108033283 [GRCh38]
Chr4:108954439 [GRCh37]
Chr4:4q25
uncertain significance
NM_005327.7(HADH):c.34G>A (p.Val12Met) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001979071] Chr4:107989966 [GRCh38]
Chr4:108911122 [GRCh37]
Chr4:4q25
uncertain significance
NM_005327.7(HADH):c.235AAG[2] (p.Lys81del) microsatellite Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002018667] Chr4:108009861..108009863 [GRCh38]
Chr4:108931017..108931019 [GRCh37]
Chr4:4q25
uncertain significance
NM_005327.7(HADH):c.220C>T (p.Leu74Phe) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001905786] Chr4:108009846 [GRCh38]
Chr4:108931002 [GRCh37]
Chr4:4q25
uncertain significance
NM_005327.7(HADH):c.106G>C (p.Gly36Arg) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001881456] Chr4:107990038 [GRCh38]
Chr4:108911194 [GRCh37]
Chr4:4q25
uncertain significance
NM_005327.7(HADH):c.827-9G>A single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002110848] Chr4:108034230 [GRCh38]
Chr4:108955386 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.144A>T (p.Ala48=) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002185350] Chr4:108009770 [GRCh38]
Chr4:108930926 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.714C>T (p.Asp238=) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002150939] Chr4:108033180 [GRCh38]
Chr4:108954336 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.709+8T>A single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002193039] Chr4:108027768 [GRCh38]
Chr4:108948924 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.636+2_636+3insCT insertion Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002249070] Chr4:108023564..108023565 [GRCh38]
Chr4:108944720..108944721 [GRCh37]
Chr4:4q25
likely pathogenic
NM_005327.4(HADH):c.-106G>A single nucleotide variant not provided [RCV003439457] Chr4:107989827 [GRCh38]
Chr4:108910983 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.709+18G>A single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002157820] Chr4:108027778 [GRCh38]
Chr4:108948934 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.262-19C>T single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002175532] Chr4:108014412 [GRCh38]
Chr4:108935568 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.261+17G>A single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002159963] Chr4:108009904 [GRCh38]
Chr4:108931060 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.546+18dup duplication Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002161048] Chr4:108019682..108019683 [GRCh38]
Chr4:108940838..108940839 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.360C>T (p.Ile120=) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003110858] Chr4:108014529 [GRCh38]
Chr4:108935685 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.705A>C (p.Glu235Asp) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003113064] Chr4:108027756 [GRCh38]
Chr4:108948912 [GRCh37]
Chr4:4q25
uncertain significance
NC_000004.11:g.(?_108816710)_(108955513_?)dup duplication Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003116349] Chr4:108816710..108955513 [GRCh37]
Chr4:4q25
uncertain significance
NM_005327.7(HADH):c.*660_*661del deletion Hyperinsulinemic hypoglycemia, familial, 4 [RCV003232910] Chr4:108035013..108035014 [GRCh38]
Chr4:108956169..108956170 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.340G>T (p.Asp114Tyr) single nucleotide variant not provided [RCV002505974] Chr4:108014509 [GRCh38]
Chr4:108935665 [GRCh37]
Chr4:4q25
uncertain significance
NM_005327.7(HADH):c.434C>A (p.Ala145Asp) single nucleotide variant Hyperinsulinemic hypoglycemia, familial, 4 [RCV002471463] Chr4:108019554 [GRCh38]
Chr4:108940710 [GRCh37]
Chr4:4q25
likely pathogenic
NM_005327.7(HADH):c.497T>A (p.Phe166Tyr) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003074318] Chr4:108019617 [GRCh38]
Chr4:108940773 [GRCh37]
Chr4:4q25
uncertain significance
NM_005327.7(HADH):c.311C>T (p.Thr104Met) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002756079] Chr4:108014480 [GRCh38]
Chr4:108935636 [GRCh37]
Chr4:4q25
uncertain significance
NM_005327.7(HADH):c.846A>G (p.Ala282=) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002780105] Chr4:108034258 [GRCh38]
Chr4:108955414 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.18G>A (p.Arg6=) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002996427] Chr4:107989950 [GRCh38]
Chr4:108911106 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.390C>T (p.Leu130=) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002750784] Chr4:108014559 [GRCh38]
Chr4:108935715 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.420A>T (p.Glu140Asp) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003033270] Chr4:108019540 [GRCh38]
Chr4:108940696 [GRCh37]
Chr4:4q25
uncertain significance
NM_005327.7(HADH):c.710-15C>T single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002760837] Chr4:108033161 [GRCh38]
Chr4:108954317 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.246T>C (p.Phe82=) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003100308] Chr4:108009872 [GRCh38]
Chr4:108931028 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.427A>G (p.Ile143Val) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002569667] Chr4:108019547 [GRCh38]
Chr4:108940703 [GRCh37]
Chr4:4q25
uncertain significance
NM_005327.7(HADH):c.424A>G (p.Thr142Ala) single nucleotide variant Inborn genetic diseases [RCV002888800] Chr4:108019544 [GRCh38]
Chr4:108940700 [GRCh37]
Chr4:4q25
uncertain significance
NM_005327.7(HADH):c.875C>T (p.Ser292Phe) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002637193] Chr4:108034287 [GRCh38]
Chr4:108955443 [GRCh37]
Chr4:4q25
uncertain significance
NM_005327.7(HADH):c.533T>A (p.Met178Lys) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002979328] Chr4:108019653 [GRCh38]
Chr4:108940809 [GRCh37]
Chr4:4q25
uncertain significance
NM_005327.7(HADH):c.64_69del (p.Ala22_Lys23del) deletion Inborn genetic diseases [RCV002887163] Chr4:107989995..107990000 [GRCh38]
Chr4:108911151..108911156 [GRCh37]
Chr4:4q25
uncertain significance
NM_005327.7(HADH):c.636+20G>A single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003080924] Chr4:108023583 [GRCh38]
Chr4:108944739 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.547-10G>T single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003085227] Chr4:108023464 [GRCh38]
Chr4:108944620 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.639C>T (p.Asp213=) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002645697] Chr4:108027690 [GRCh38]
Chr4:108948846 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.710-11T>G single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002663674] Chr4:108033165 [GRCh38]
Chr4:108954321 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.832C>T (p.His278Tyr) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002594432] Chr4:108034244 [GRCh38]
Chr4:108955400 [GRCh37]
Chr4:4q25
uncertain significance
NM_005327.7(HADH):c.906C>G (p.Phe302Leu) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002572294] Chr4:108034318 [GRCh38]
Chr4:108955474 [GRCh37]
Chr4:4q25
uncertain significance
NM_005327.7(HADH):c.261+8C>T single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002642738] Chr4:108009895 [GRCh38]
Chr4:108931051 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.420-4A>G single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002985536] Chr4:108019536 [GRCh38]
Chr4:108940692 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.422A>G (p.His141Arg) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002572591] Chr4:108019542 [GRCh38]
Chr4:108940698 [GRCh37]
Chr4:4q25
uncertain significance
NM_005327.7(HADH):c.385G>C (p.Glu129Gln) single nucleotide variant Inborn genetic diseases [RCV002921023] Chr4:108014554 [GRCh38]
Chr4:108935710 [GRCh37]
Chr4:4q25
uncertain significance
NM_005327.7(HADH):c.32C>T (p.Ser11Phe) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002632364] Chr4:107989964 [GRCh38]
Chr4:108911120 [GRCh37]
Chr4:4q25
uncertain significance
NM_005327.7(HADH):c.819C>T (p.Ile273=) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003091995] Chr4:108033285 [GRCh38]
Chr4:108954441 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.261+12T>C single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003091346] Chr4:108009899 [GRCh38]
Chr4:108931055 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.865C>T (p.Pro289Ser) single nucleotide variant Inborn genetic diseases [RCV002714112] Chr4:108034277 [GRCh38]
Chr4:108955433 [GRCh37]
Chr4:4q25
uncertain significance
NM_005327.7(HADH):c.651T>C (p.Phe217=) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002628493] Chr4:108027702 [GRCh38]
Chr4:108948858 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.546+9G>A single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002647351] Chr4:108019675 [GRCh38]
Chr4:108940831 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.642T>C (p.Thr214=) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003028823] Chr4:108027693 [GRCh38]
Chr4:108948849 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.443C>T (p.Thr148Ile) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003044048] Chr4:108019563 [GRCh38]
Chr4:108940719 [GRCh37]
Chr4:4q25
uncertain significance
NM_005327.7(HADH):c.540T>C (p.Leu180=) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003088517] Chr4:108019660 [GRCh38]
Chr4:108940816 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.419+12C>G single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002899609] Chr4:108014600 [GRCh38]
Chr4:108935756 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.594A>G (p.Val198=) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003026638] Chr4:108023521 [GRCh38]
Chr4:108944677 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.420-17A>G single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002933493] Chr4:108019523 [GRCh38]
Chr4:108940679 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.316G>A (p.Ala106Thr) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002832790] Chr4:108014485 [GRCh38]
Chr4:108935641 [GRCh37]
Chr4:4q25
uncertain significance
NM_005327.7(HADH):c.253A>G (p.Asn85Asp) single nucleotide variant Inborn genetic diseases [RCV002720003] Chr4:108009879 [GRCh38]
Chr4:108931035 [GRCh37]
Chr4:4q25
uncertain significance
NM_005327.7(HADH):c.134T>C (p.Val45Ala) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003009880] Chr4:108009760 [GRCh38]
Chr4:108930916 [GRCh37]
Chr4:4q25
uncertain significance
NM_005327.7(HADH):c.838A>G (p.Met280Val) single nucleotide variant Inborn genetic diseases [RCV002959628] Chr4:108034250 [GRCh38]
Chr4:108955406 [GRCh37]
Chr4:4q25
uncertain significance
NM_005327.7(HADH):c.388C>T (p.Leu130Phe) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002602279] Chr4:108014557 [GRCh38]
Chr4:108935713 [GRCh37]
Chr4:4q25
uncertain significance
NM_005327.7(HADH):c.710-13G>A single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002602426] Chr4:108033163 [GRCh38]
Chr4:108954319 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.267C>T (p.Gly89=) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003092646] Chr4:108014436 [GRCh38]
Chr4:108935592 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.243G>T (p.Lys81Asn) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002604479] Chr4:108009869 [GRCh38]
Chr4:108931025 [GRCh37]
Chr4:4q25
uncertain significance
NM_005327.7(HADH):c.825T>C (p.Asp275=) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002721963] Chr4:108033291 [GRCh38]
Chr4:108954447 [GRCh37]
Chr4:4q25
uncertain significance
NM_005327.7(HADH):c.336C>T (p.Ser112=) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002603739] Chr4:108014505 [GRCh38]
Chr4:108935661 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.636+16G>A single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002608784] Chr4:108023579 [GRCh38]
Chr4:108944735 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.710-18C>T single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002611263] Chr4:108033158 [GRCh38]
Chr4:108954314 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.203dup (p.Ile70fs) duplication not provided [RCV003145974] Chr4:108009824..108009825 [GRCh38]
Chr4:108930980..108930981 [GRCh37]
Chr4:4q25
likely pathogenic
NM_005327.7(HADH):c.166_169del (p.Val56fs) deletion Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003159274] Chr4:108009791..108009794 [GRCh38]
Chr4:108930947..108930950 [GRCh37]
Chr4:4q25
likely pathogenic
NM_005327.7(HADH):c.710-822C>T single nucleotide variant Hyperinsulinemic hypoglycemia [RCV003221471] Chr4:108032354 [GRCh38]
Chr4:108953510 [GRCh37]
Chr4:4q25
likely pathogenic
NM_005327.4(HADH):c.-193G>T single nucleotide variant Hyperinsulinemic hypoglycemia [RCV003221342] Chr4:107989740 [GRCh38]
Chr4:108910896 [GRCh37]
Chr4:4q25
likely benign
NM_005327.4(HADH):c.-195A>T single nucleotide variant Hyperinsulinemic hypoglycemia [RCV003221343] Chr4:107989738 [GRCh38]
Chr4:108910894 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.28C>T (p.Arg10Cys) single nucleotide variant Inborn genetic diseases [RCV003202386] Chr4:107989960 [GRCh38]
Chr4:108911116 [GRCh37]
Chr4:4q25
uncertain significance
NM_005327.7(HADH):c.308G>C (p.Ser103Thr) single nucleotide variant Inborn genetic diseases [RCV003345935] Chr4:108014477 [GRCh38]
Chr4:108935633 [GRCh37]
Chr4:4q25
uncertain significance
NM_005327.7(HADH):c.262-2A>G single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003468307] Chr4:108014429 [GRCh38]
Chr4:108935585 [GRCh37]
Chr4:4q25
likely pathogenic
NM_005327.7(HADH):c.424dup (p.Thr142fs) duplication Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003468308] Chr4:108019543..108019544 [GRCh38]
Chr4:108940699..108940700 [GRCh37]
Chr4:4q25
likely pathogenic
NM_005327.7(HADH):c.827-20C>T single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003875572] Chr4:108034219 [GRCh38]
Chr4:108955375 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.351G>A (p.Val117=) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003873901] Chr4:108014520 [GRCh38]
Chr4:108935676 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.523G>A (p.Val175Met) single nucleotide variant not specified [RCV003479980] Chr4:108019643 [GRCh38]
Chr4:108940799 [GRCh37]
Chr4:4q25
uncertain significance
NM_005327.7(HADH):c.133-4945T>C single nucleotide variant not provided [RCV003435129] Chr4:108004814 [GRCh38]
Chr4:108925970 [GRCh37]
Chr4:4q25
uncertain significance
NM_005327.7(HADH):c.130C>T (p.Gln44Ter) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003461715] Chr4:107990062 [GRCh38]
Chr4:108911218 [GRCh37]
Chr4:4q25
likely pathogenic
NM_005327.7(HADH):c.414T>A (p.Ala138=) single nucleotide variant not provided [RCV003439458] Chr4:108014583 [GRCh38]
Chr4:108935739 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.709+2T>C single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003476416] Chr4:108027762 [GRCh38]
Chr4:108948918 [GRCh37]
Chr4:4q25
likely pathogenic
NM_005327.7(HADH):c.419+1G>C single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003461716] Chr4:108014589 [GRCh38]
Chr4:108935745 [GRCh37]
Chr4:4q25
likely pathogenic
NM_005327.7(HADH):c.419+1G>A single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003468309] Chr4:108014589 [GRCh38]
Chr4:108935745 [GRCh37]
Chr4:4q25
pathogenic
NM_005327.7(HADH):c.304_307dup (p.Ser103fs) duplication Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003510094] Chr4:108014472..108014473 [GRCh38]
Chr4:108935628..108935629 [GRCh37]
Chr4:4q25
pathogenic
NM_005327.7(HADH):c.636+18T>C single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003510220] Chr4:108023581 [GRCh38]
Chr4:108944737 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.419+16A>T single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003510388] Chr4:108014604 [GRCh38]
Chr4:108935760 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.50C>T (p.Thr17Ile) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003509139] Chr4:107989982 [GRCh38]
Chr4:108911138 [GRCh37]
Chr4:4q25
uncertain significance
NM_005327.7(HADH):c.756C>T (p.Ala252=) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003511048] Chr4:108033222 [GRCh38]
Chr4:108954378 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.39C>T (p.Ser13=) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003876049] Chr4:107989971 [GRCh38]
Chr4:108911127 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.133-19T>C single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003510635] Chr4:108009740 [GRCh38]
Chr4:108930896 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.126T>C (p.Ile42=) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003510382] Chr4:107990058 [GRCh38]
Chr4:108911214 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.120C>T (p.Ala40=) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003511013] Chr4:107990052 [GRCh38]
Chr4:108911208 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.133-20T>G single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003510452] Chr4:108009739 [GRCh38]
Chr4:108930895 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.123C>T (p.Gly41=) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003510538] Chr4:107990055 [GRCh38]
Chr4:108911211 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.546+15G>T single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003510328] Chr4:108019681 [GRCh38]
Chr4:108940837 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.419+18A>G single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003510389] Chr4:108014606 [GRCh38]
Chr4:108935762 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.827-20C>G single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003511030] Chr4:108034219 [GRCh38]
Chr4:108955375 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.810G>A (p.Thr270=) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003511118] Chr4:108033276 [GRCh38]
Chr4:108954432 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.163T>C (p.Leu55=) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003509175] Chr4:108009789 [GRCh38]
Chr4:108930945 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.756C>G (p.Ala252=) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003510160] Chr4:108033222 [GRCh38]
Chr4:108954378 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.897G>A (p.Glu299=) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003509341] Chr4:108034309 [GRCh38]
Chr4:108955465 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.636+2T>C single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003510680] Chr4:108023565 [GRCh38]
Chr4:108944721 [GRCh37]
Chr4:4q25
likely pathogenic
NM_005327.7(HADH):c.498C>T (p.Phe166=) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003877899] Chr4:108019618 [GRCh38]
Chr4:108940774 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.315T>C (p.Asp105=) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003510212] Chr4:108014484 [GRCh38]
Chr4:108935640 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.261+16C>G single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003509418] Chr4:108009903 [GRCh38]
Chr4:108931059 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.637-20T>C single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003510523] Chr4:108027668 [GRCh38]
Chr4:108948824 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.262-5A>G single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003509187] Chr4:108014426 [GRCh38]
Chr4:108935582 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.261+20G>A single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003510327] Chr4:108009907 [GRCh38]
Chr4:108931063 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.132+16T>A single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003510343] Chr4:107990080 [GRCh38]
Chr4:108911236 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.826+8T>C single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003510992] Chr4:108033300 [GRCh38]
Chr4:108954456 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.906C>T (p.Phe302=) single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003511014] Chr4:108034318 [GRCh38]
Chr4:108955474 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.132+15C>A single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003510653] Chr4:107990079 [GRCh38]
Chr4:108911235 [GRCh37]
Chr4:4q25
likely benign
NM_005327.7(HADH):c.636+16G>T single nucleotide variant Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003509999] Chr4:108023579 [GRCh38]
Chr4:108944735 [GRCh37]
Chr4:4q25
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2189
Count of miRNA genes:629
Interacting mature miRNAs:694
Transcripts:ENST00000309522, ENST00000403312, ENST00000454409, ENST00000505878, ENST00000507260, ENST00000510728, ENST00000511742, ENST00000514776, ENST00000515462, ENST00000603302
Prediction methods:Microtar, 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.

Markers in Region
SHGC-67734  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374108,917,239 - 108,917,370UniSTSGRCh37
Build 364109,136,688 - 109,136,819RGDNCBI36
Celera4106,212,058 - 106,212,189RGD
Cytogenetic Map4q22-q26UniSTS
HuRef4104,648,652 - 104,648,783UniSTS
GeneMap99-GB4 RH Map4508.95UniSTS
D4S2795  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374108,956,058 - 108,956,259UniSTSGRCh37
Build 364109,175,507 - 109,175,708RGDNCBI36
Celera4106,250,871 - 106,251,072RGD
Cytogenetic Map4q22-q26UniSTS
HuRef4104,687,700 - 104,687,901UniSTS
GeneMap99-GB4 RH Map4505.82UniSTS
Whitehead-RH Map4545.7UniSTS
Whitehead-YAC Contig Map4 UniSTS
SHGC-83599  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374108,937,116 - 108,937,236UniSTSGRCh37
Build 364109,156,565 - 109,156,685RGDNCBI36
Celera4106,231,935 - 106,232,055RGD
Cytogenetic Map4q22-q26UniSTS
HuRef4104,668,528 - 104,668,648UniSTS
TNG Radiation Hybrid Map466436.0UniSTS
SHGC-18755  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374108,943,693 - 108,943,782UniSTSGRCh37
Build 364109,163,142 - 109,163,231RGDNCBI36
Celera4106,238,512 - 106,238,601RGD
Cytogenetic Map4q22-q26UniSTS
HuRef4104,675,097 - 104,675,186UniSTS
TNG Radiation Hybrid Map466455.0UniSTS
Stanford-G3 RH Map46265.0UniSTS
SHGC-51987  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374108,912,741 - 108,912,926UniSTSGRCh37
Build 364109,132,190 - 109,132,375RGDNCBI36
Celera4106,207,560 - 106,207,745RGD
Cytogenetic Map4q22-q26UniSTS
HuRef4104,644,154 - 104,644,339UniSTS
TNG Radiation Hybrid Map466336.0UniSTS
D4S1008  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374108,940,099 - 108,940,263UniSTSGRCh37
Build 364109,159,548 - 109,159,712RGDNCBI36
Celera4106,234,924 - 106,235,088RGD
Cytogenetic Map4q22-q26UniSTS
HuRef4104,671,511 - 104,671,675UniSTS
TNG Radiation Hybrid Map466436.0UniSTS
Stanford-G3 RH Map46233.0UniSTS
D4S2516E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374108,956,057 - 108,956,126UniSTSGRCh37
Build 364109,175,506 - 109,175,575RGDNCBI36
Celera4106,250,870 - 106,250,939RGD
Cytogenetic Map4q22-q26UniSTS
HuRef4104,687,699 - 104,687,768UniSTS
GeneMap99-GB4 RH Map4506.85UniSTS
SHGC-18759  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374108,931,887 - 108,932,005UniSTSGRCh37
Build 364109,151,336 - 109,151,454RGDNCBI36
Celera4106,226,706 - 106,226,824RGD
Cytogenetic Map4q22-q26UniSTS
HuRef4104,663,299 - 104,663,417UniSTS
Stanford-G3 RH Map46244.0UniSTS
SHGC-57594  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374108,955,431 - 108,955,559UniSTSGRCh37
Build 364109,174,880 - 109,175,008RGDNCBI36
Celera4106,250,244 - 106,250,372RGD
Cytogenetic Map4q22-q26UniSTS
HuRef4104,687,073 - 104,687,201UniSTS
TNG Radiation Hybrid Map466461.0UniSTS
SHGC-59812  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374108,953,245 - 108,953,488UniSTSGRCh37
Build 364109,172,694 - 109,172,937RGDNCBI36
Celera4106,248,063 - 106,248,301RGD
Cytogenetic Map4q22-q26UniSTS
HuRef4104,684,892 - 104,685,130UniSTS
GeneMap99-GB4 RH Map4505.82UniSTS
RH18323  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374108,956,034 - 108,956,220UniSTSGRCh37
Build 364109,175,483 - 109,175,669RGDNCBI36
Celera4106,250,847 - 106,251,033RGD
Cytogenetic Map4q22-q26UniSTS
HuRef4104,687,676 - 104,687,862UniSTS
GeneMap99-GB4 RH Map4505.93UniSTS


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 2415 2127 1679 616 1150 457 4331 2095 2228 409 1446 1534 174 1 1202 2776 4 2
Low 24 844 47 8 781 8 26 102 1506 10 14 79 1 2 12 2
Below cutoff 20 20

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001184705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001331027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001741214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002959727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007096395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC114733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC118062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF001902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF001903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF001904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF095703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH006998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI017358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM682975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA825380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM005616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X96752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000309522   ⟹   ENSP00000312288
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4107,989,889 - 108,035,171 (+)Ensembl
RefSeq Acc Id: ENST00000403312   ⟹   ENSP00000385638
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4107,989,896 - 108,035,118 (+)Ensembl
RefSeq Acc Id: ENST00000505878   ⟹   ENSP00000425952
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4107,989,714 - 108,034,861 (+)Ensembl
RefSeq Acc Id: ENST00000507260
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4107,989,847 - 108,035,151 (+)Ensembl
RefSeq Acc Id: ENST00000510728
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4108,026,064 - 108,035,241 (+)Ensembl
RefSeq Acc Id: ENST00000511742   ⟹   ENSP00000425254
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4107,989,855 - 108,005,334 (+)Ensembl
RefSeq Acc Id: ENST00000514776
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4108,027,619 - 108,035,241 (+)Ensembl
RefSeq Acc Id: ENST00000515462
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4108,025,865 - 108,035,241 (+)Ensembl
RefSeq Acc Id: ENST00000603302   ⟹   ENSP00000474560
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4107,989,714 - 108,035,174 (+)Ensembl
RefSeq Acc Id: ENST00000626637   ⟹   ENSP00000486771
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4108,004,482 - 108,034,923 (+)Ensembl
RefSeq Acc Id: ENST00000638559   ⟹   ENSP00000490998
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4107,989,946 - 108,034,923 (+)Ensembl
RefSeq Acc Id: ENST00000638621   ⟹   ENSP00000491581
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4107,989,854 - 108,034,488 (+)Ensembl
RefSeq Acc Id: ENST00000638648
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4108,004,451 - 108,034,922 (+)Ensembl
RefSeq Acc Id: ENST00000639013
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4107,989,858 - 108,004,750 (+)Ensembl
RefSeq Acc Id: ENST00000639146   ⟹   ENSP00000492345
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4107,989,837 - 108,035,149 (+)Ensembl
RefSeq Acc Id: ENST00000639335   ⟹   ENSP00000491310
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4107,989,829 - 108,034,762 (+)Ensembl
RefSeq Acc Id: ENST00000639698   ⟹   ENSP00000492420
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4107,990,053 - 108,035,112 (+)Ensembl
RefSeq Acc Id: ENST00000639784   ⟹   ENSP00000491783
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4108,009,763 - 108,035,103 (+)Ensembl
RefSeq Acc Id: ENST00000640048   ⟹   ENSP00000492009
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4108,009,789 - 108,035,110 (+)Ensembl
RefSeq Acc Id: ENST00000640060   ⟹   ENSP00000492734
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4107,989,902 - 108,035,022 (+)Ensembl
RefSeq Acc Id: ENST00000640201
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4107,989,847 - 108,035,120 (+)Ensembl
RefSeq Acc Id: ENST00000640586   ⟹   ENSP00000492674
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4107,990,016 - 108,025,946 (+)Ensembl
RefSeq Acc Id: ENST00000640752
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4107,989,847 - 108,035,157 (+)Ensembl
RefSeq Acc Id: ENST00000681992
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4107,989,896 - 108,018,511 (+)Ensembl
RefSeq Acc Id: ENST00000682067   ⟹   ENSP00000507544
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4108,004,826 - 108,034,922 (+)Ensembl
RefSeq Acc Id: ENST00000682086
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4108,026,983 - 108,034,923 (+)Ensembl
RefSeq Acc Id: ENST00000682197
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4107,989,849 - 108,020,320 (+)Ensembl
RefSeq Acc Id: ENST00000682373   ⟹   ENSP00000508283
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4107,989,989 - 108,035,070 (+)Ensembl
RefSeq Acc Id: ENST00000684696   ⟹   ENSP00000507675
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4107,989,864 - 108,034,923 (+)Ensembl
RefSeq Acc Id: NM_001184705   ⟹   NP_001171634
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384107,989,889 - 108,035,171 (+)NCBI
GRCh374108,910,870 - 108,956,331 (+)NCBI
HuRef4104,642,283 - 104,687,973 (+)ENTREZGENE
CHM1_14108,887,327 - 108,932,780 (+)NCBI
T2T-CHM13v2.04111,292,223 - 111,337,508 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001331027   ⟹   NP_001317956
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384108,004,611 - 108,035,171 (+)NCBI
T2T-CHM13v2.04111,306,949 - 111,337,508 (+)NCBI
Sequence:
RefSeq Acc Id: NM_005327   ⟹   NP_005318
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384107,989,889 - 108,035,171 (+)NCBI
GRCh374108,910,870 - 108,956,331 (+)ENTREZGENE
Build 364109,130,389 - 109,175,780 (+)NCBI Archive
HuRef4104,642,283 - 104,687,973 (+)ENTREZGENE
CHM1_14108,887,327 - 108,932,780 (+)NCBI
T2T-CHM13v2.04111,292,223 - 111,337,508 (+)NCBI
Sequence:
RefSeq Acc Id: XR_007096395
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384107,989,889 - 108,033,263 (+)NCBI
RefSeq Acc Id: XR_008486973
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04111,292,223 - 111,335,600 (+)NCBI
RefSeq Acc Id: NP_001171634   ⟸   NM_001184705
- Peptide Label: isoform 1 precursor
- UniProtKB: A0A0A0MSE2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_005318   ⟸   NM_005327
- Peptide Label: isoform 2 precursor
- UniProtKB: Q16836 (UniProtKB/Swiss-Prot),   O00753 (UniProtKB/Swiss-Prot),   O00397 (UniProtKB/Swiss-Prot),   O00324 (UniProtKB/Swiss-Prot),   J3KQ17 (UniProtKB/Swiss-Prot),   Q4W5B4 (UniProtKB/Swiss-Prot),   A0A140VK76 (UniProtKB/TrEMBL),   B2RB06 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001317956   ⟸   NM_001331027
- Peptide Label: isoform 3
- UniProtKB: A0A0D9SFP2 (UniProtKB/TrEMBL),   B3KTT6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000425952   ⟸   ENST00000505878
RefSeq Acc Id: ENSP00000312288   ⟸   ENST00000309522
RefSeq Acc Id: ENSP00000491581   ⟸   ENST00000638621
RefSeq Acc Id: ENSP00000490998   ⟸   ENST00000638559
RefSeq Acc Id: ENSP00000492345   ⟸   ENST00000639146
RefSeq Acc Id: ENSP00000491783   ⟸   ENST00000639784
RefSeq Acc Id: ENSP00000492420   ⟸   ENST00000639698
RefSeq Acc Id: ENSP00000491310   ⟸   ENST00000639335
RefSeq Acc Id: ENSP00000486771   ⟸   ENST00000626637
RefSeq Acc Id: ENSP00000385638   ⟸   ENST00000403312
RefSeq Acc Id: ENSP00000492009   ⟸   ENST00000640048
RefSeq Acc Id: ENSP00000492734   ⟸   ENST00000640060
RefSeq Acc Id: ENSP00000492674   ⟸   ENST00000640586
RefSeq Acc Id: ENSP00000474560   ⟸   ENST00000603302
RefSeq Acc Id: ENSP00000425254   ⟸   ENST00000511742
RefSeq Acc Id: ENSP00000507675   ⟸   ENST00000684696
RefSeq Acc Id: ENSP00000507544   ⟸   ENST00000682067
RefSeq Acc Id: ENSP00000508283   ⟸   ENST00000682373
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q16836-F1-model_v2 AlphaFold Q16836 1-314 view protein structure

Promoters
RGD ID:6868236
Promoter ID:EPDNEW_H7283
Type:initiation region
Name:HADH_1
Description:hydroxyacyl-CoA dehydrogenase
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
GRCh384107,989,853 - 107,989,913EPDNEW
RGD ID:6802374
Promoter ID:HG_KWN:48877
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000403312,   OTTHUMT00000254750,   UC010ILY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 364109,129,596 - 109,130,487 (+)MPROMDB
RGD ID:6851432
Promoter ID:EP73517
Type:initiation region
Name:HS_HADHSC
Description:L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain.
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 364109,130,458 - 109,130,518EPD
RGD ID:6802357
Promoter ID:HG_KWN:48878
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC003HYR.1
Position:
Human AssemblyChrPosition (strand)Source
Build 364109,144,526 - 109,145,026 (+)MPROMDB
RGD ID:6802369
Promoter ID:HG_KWN:48879
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:UC010ILZ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 364109,159,061 - 109,159,561 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4799 AgrOrtholog
COSMIC HADH COSMIC
Ensembl Genes ENSG00000138796 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000309522 ENTREZGENE
  ENST00000309522.8 UniProtKB/Swiss-Prot
  ENST00000403312.6 UniProtKB/TrEMBL
  ENST00000505878.4 UniProtKB/TrEMBL
  ENST00000511742.1 UniProtKB/TrEMBL
  ENST00000603302 ENTREZGENE
  ENST00000603302.5 UniProtKB/Swiss-Prot
  ENST00000626637 ENTREZGENE
  ENST00000626637.2 UniProtKB/TrEMBL
  ENST00000638559.1 UniProtKB/TrEMBL
  ENST00000638621.1 UniProtKB/TrEMBL
  ENST00000638648.2 UniProtKB/TrEMBL
  ENST00000639146.1 UniProtKB/TrEMBL
  ENST00000639335.1 UniProtKB/TrEMBL
  ENST00000639698.1 UniProtKB/TrEMBL
  ENST00000639784.1 UniProtKB/TrEMBL
  ENST00000640048.1 UniProtKB/TrEMBL
  ENST00000640060.1 UniProtKB/TrEMBL
  ENST00000640586.1 UniProtKB/TrEMBL
  ENST00000682067.1 UniProtKB/TrEMBL
  ENST00000682373.1 UniProtKB/TrEMBL
  ENST00000684696.1 UniProtKB/TrEMBL
Gene3D-CATH 6.10.250.1150 UniProtKB/TrEMBL
  NAD(P)-binding Rossmann-like Domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000138796 GTEx
HGNC ID HGNC:4799 ENTREZGENE
Human Proteome Map HADH Human Proteome Map
InterPro 3-OHacyl-CoA_DH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3-OHacyl-CoA_DH_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3-OHacyl-CoA_DH_NAD-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3HC_DH_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  6-PGluconate_DH-like_C_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  6PGD_dom2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAD(P)-bd_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3033 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 3033 ENTREZGENE
OMIM 601609 OMIM
PANTHER HYDROXYACYL-COENZYME A DEHYDROGENASE, MITOCHONDRIAL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR43561 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam 3HCDH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3HCDH_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29173 PharmGKB
PIRSF HCDH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE 3HCDH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48179 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF51735 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0A0MSE2 ENTREZGENE, UniProtKB/TrEMBL
  A0A0D9SFP2 ENTREZGENE, UniProtKB/TrEMBL
  A0A140VK76 ENTREZGENE, UniProtKB/TrEMBL
  A0A1W2PNM1_HUMAN UniProtKB/TrEMBL
  A0A1W2PP40_HUMAN UniProtKB/TrEMBL
  A0A1W2PQ55_HUMAN UniProtKB/TrEMBL
  A0A1W2PQ78_HUMAN UniProtKB/TrEMBL
  A0A1W2PQC2_HUMAN UniProtKB/TrEMBL
  A0A1W2PQV5_HUMAN UniProtKB/TrEMBL
  A0A1W2PRM6_HUMAN UniProtKB/TrEMBL
  A0A1W2PRT2_HUMAN UniProtKB/TrEMBL
  A0A804HJK7_HUMAN UniProtKB/TrEMBL
  A0A804HJW7_HUMAN UniProtKB/TrEMBL
  A0A804HKJ2_HUMAN UniProtKB/TrEMBL
  A0A804HLB5_HUMAN UniProtKB/TrEMBL
  B2RB06 ENTREZGENE, UniProtKB/TrEMBL
  B3KTT6 ENTREZGENE, UniProtKB/TrEMBL
  E9PF18_HUMAN UniProtKB/TrEMBL
  HCDH_HUMAN UniProtKB/Swiss-Prot
  J3KQ17 ENTREZGENE
  J3KR89_HUMAN UniProtKB/TrEMBL
  O00324 ENTREZGENE
  O00397 ENTREZGENE
  O00753 ENTREZGENE
  Q16836 ENTREZGENE
  Q4W5B4 ENTREZGENE
UniProt Secondary J3KQ17 UniProtKB/Swiss-Prot
  O00324 UniProtKB/Swiss-Prot
  O00397 UniProtKB/Swiss-Prot
  O00753 UniProtKB/Swiss-Prot
  Q4W5B4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-07-27 HADH  hydroxyacyl-CoA dehydrogenase  HADH  hydroxyacyl-Coenzyme A dehydrogenase  Symbol and/or name change 5135510 APPROVED