ACADS (acyl-CoA dehydrogenase short chain) - Rat Genome Database
Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: ACADS (acyl-CoA dehydrogenase short chain) Homo sapiens
Analyze
Symbol: ACADS
Name: acyl-CoA dehydrogenase short chain
RGD ID: 732202
HGNC Page HGNC
Description: Exhibits acyl-CoA dehydrogenase activity. Involved in fatty acid beta-oxidation using acyl-CoA dehydrogenase. Localizes to centrosome; mitochondrion; and nucleoplasm. Implicated in short chain acyl-CoA dehydrogenase deficiency.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ACAD3; acyl-CoA dehydrogenase, C-2 to C-3 short chain; acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain; butyryl-CoA dehydrogenase; mitochondrial short-chain specific acyl-CoA dehydrogenase; SCAD; short chain acyl-coenzyme a dehydrogenase; short-chain acyl-CoA dehydrogenase; short-chain specific acyl-CoA dehydrogenase, mitochondrial; unsaturated acyl-CoA reductase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl12120,725,774 - 120,740,008 (+)EnsemblGRCh38hg38GRCh38
GRCh3812120,725,826 - 120,740,008 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3712121,163,629 - 121,177,811 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh3712121,163,544 - 121,177,811 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3612119,648,050 - 119,662,193 (+)NCBINCBI36hg18NCBI36
Build 3412119,626,385 - 119,640,530NCBI
Celera12120,797,834 - 120,812,046 (+)NCBI
Cytogenetic Map12q24.31NCBI
HuRef12118,172,924 - 118,187,098 (+)NCBIHuRef
CHM1_112121,132,316 - 121,146,588 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-trinitrotoluene  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3,5-diethoxycarbonyl-1,4-dihydrocollidine  (ISO)
3-chloropropane-1,2-diol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-(4-chlorophenyl)imidazo[2,1-b][1,3]thiazole-5-carbaldehyde O-(3,4-dichlorobenzyl)oxime  (EXP)
6-propyl-2-thiouracil  (ISO)
acadesine  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP)
aflatoxin B2  (EXP)
ammonium chloride  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
aspartame  (ISO)
atrazine  (EXP)
benzo[a]pyrene  (EXP)
beta-hexachlorocyclohexane  (EXP,ISO)
bisphenol A  (ISO)
carbon nanotube  (ISO)
chenodeoxycholic acid  (ISO)
choline  (ISO)
clofibrate  (ISO)
copper(II) sulfate  (EXP)
DDE  (EXP)
dextran sulfate  (ISO)
dibutyl phthalate  (ISO)
dioscin  (ISO)
doxorubicin  (ISO)
elemental selenium  (EXP)
ethanol  (ISO)
farnesol  (EXP)
fenamidone  (ISO)
fenofibrate  (ISO)
flutamide  (ISO)
folic acid  (ISO)
fructose  (ISO)
furan  (ISO)
glafenine  (ISO)
glycidol  (ISO)
gold atom  (EXP)
gold(0)  (EXP)
guggulsterone  (ISO)
GW 4064  (EXP)
GW 7647  (EXP)
hypochlorous acid  (ISO)
L-methionine  (ISO)
maneb  (ISO)
melatonin  (ISO)
methapyrilene  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
monosodium L-glutamate  (ISO)
N-nitrosomorpholine  (ISO)
oleic acid  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
poly(I:C)  (ISO)
propiconazole  (ISO)
resveratrol  (ISO)
selenium atom  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (ISO)
sunitinib  (EXP)
tert-butyl hydroperoxide  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
troglitazone  (ISO)
urethane  (EXP)
vinclozolin  (ISO)
vitamin E  (EXP)
zinc atom  (EXP)
zinc sulfate  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:1286669   PMID:1692038   PMID:2565344   PMID:3597357   PMID:8276399   PMID:8503850   PMID:8889548   PMID:9383286   PMID:9499414   PMID:11134486   PMID:12220177   PMID:12477932  
PMID:12706374   PMID:15489334   PMID:15902559   PMID:16376132   PMID:16729965   PMID:18045290   PMID:18054510   PMID:18175080   PMID:18184946   PMID:18523805   PMID:18539996   PMID:18977676  
PMID:19470168   PMID:19913121   PMID:20037589   PMID:20180986   PMID:20371198   PMID:20376488   PMID:20554694   PMID:20628086   PMID:20843780   PMID:20877624   PMID:21211036   PMID:21630459  
PMID:21873635   PMID:21886157   PMID:21938826   PMID:21968293   PMID:21988832   PMID:22004070   PMID:24485985   PMID:24554194   PMID:24586186   PMID:24816252   PMID:24850141   PMID:25307522  
PMID:26186194   PMID:26344197   PMID:27466294   PMID:28514442   PMID:28532786   PMID:29678161   PMID:31652420   PMID:33429745  


Genomics

Comparative Map Data
ACADS
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl12120,725,774 - 120,740,008 (+)EnsemblGRCh38hg38GRCh38
GRCh3812120,725,826 - 120,740,008 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3712121,163,629 - 121,177,811 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh3712121,163,544 - 121,177,811 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3612119,648,050 - 119,662,193 (+)NCBINCBI36hg18NCBI36
Build 3412119,626,385 - 119,640,530NCBI
Celera12120,797,834 - 120,812,046 (+)NCBI
Cytogenetic Map12q24.31NCBI
HuRef12118,172,924 - 118,187,098 (+)NCBIHuRef
CHM1_112121,132,316 - 121,146,588 (+)NCBICHM1_1
Acads
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395115,248,358 - 115,257,405 (-)NCBIGRCm39mm39
GRCm385115,110,299 - 115,119,346 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5115,110,299 - 115,119,346 (-)EnsemblGRCm38mm10GRCm38
MGSCv375115,560,308 - 115,569,322 (-)NCBIGRCm37mm9NCBIm37
MGSCv365115,371,298 - 115,380,312 (-)NCBImm8
Celera5112,206,409 - 112,215,487 (-)NCBICelera
Cytogenetic Map5FNCBI
cM Map555.99NCBI
Acads
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21241,493,650 - 41,502,897 (+)NCBI
Rnor_6.0 Ensembl1247,254,484 - 47,263,747 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01247,254,503 - 47,263,747 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01249,049,549 - 49,059,164 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41242,765,284 - 42,774,528 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11242,628,671 - 42,637,916 (+)NCBI
Celera1243,112,383 - 43,121,613 (+)NCBICelera
Cytogenetic Map12q16NCBI
Acads
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545510,928,560 - 10,942,926 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495545510,928,560 - 10,942,748 (-)NCBIChiLan1.0ChiLan1.0
ACADS
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.112121,682,113 - 121,696,376 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl12121,682,113 - 121,696,376 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v012118,309,303 - 118,323,489 (+)NCBIMhudiblu_PPA_v0panPan3
ACADS
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl2616,572,947 - 16,584,194 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.12616,572,936 - 16,584,760 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Acads
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_004936668257,214 - 272,089 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ACADS
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1440,624,213 - 40,659,928 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11440,642,810 - 40,656,922 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21443,110,578 - 43,124,662 (+)NCBISscrofa10.2Sscrofa10.2susScr3
Pig Cytomap14q16.2-q23.2NCBI
ACADS
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.111116,083,156 - 116,096,554 (+)NCBI
ChlSab1.1 Ensembl11116,083,276 - 116,096,607 (+)Ensembl
Acads
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474712,954,635 - 12,966,320 (-)NCBI

Position Markers
RH75794  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712121,177,644 - 121,177,789UniSTSGRCh37
Build 3612119,662,027 - 119,662,172RGDNCBI36
Celera12120,811,879 - 120,812,024RGD
Cytogenetic Map12q24.31UniSTS
HuRef12118,186,931 - 118,187,076UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1168
Count of miRNA genes:650
Interacting mature miRNAs:737
Transcripts:ENST00000242592, ENST00000411593, ENST00000539690
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2416 2514 1698 621 1355 462 4211 2123 2796 403 1379 1501 170 1204 2771 4 1
Low 23 477 28 3 587 3 145 72 937 16 81 106 5 1 17 2 1
Below cutoff 7 1 2 6

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001302554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB527081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC069234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH007136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC025963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU682624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB487184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB505221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ900943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M26393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X78079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z80345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z80347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000242592   ⟹   ENSP00000242592
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12120,725,826 - 120,740,008 (+)Ensembl
RefSeq Acc Id: ENST00000411593   ⟹   ENSP00000401045
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12120,725,861 - 120,739,594 (+)Ensembl
RefSeq Acc Id: ENST00000539690
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12120,725,774 - 120,737,805 (+)Ensembl
RefSeq Acc Id: NM_000017   ⟹   NP_000008
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812120,725,826 - 120,740,008 (+)NCBI
GRCh3712121,163,544 - 121,177,811 (+)NCBI
Build 3612119,648,050 - 119,662,193 (+)NCBI Archive
HuRef12118,172,924 - 118,187,098 (+)ENTREZGENE
CHM1_112121,132,316 - 121,146,588 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001302554   ⟹   NP_001289483
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812120,725,826 - 120,740,008 (+)NCBI
CHM1_112121,132,316 - 121,146,588 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000008 (Get FASTA)   NCBI Sequence Viewer  
  NP_001289483 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA60307 (Get FASTA)   NCBI Sequence Viewer  
  AAD00552 (Get FASTA)   NCBI Sequence Viewer  
  AAH25963 (Get FASTA)   NCBI Sequence Viewer  
  ADO22460 (Get FASTA)   NCBI Sequence Viewer  
  ADP91814 (Get FASTA)   NCBI Sequence Viewer  
  ADP91815 (Get FASTA)   NCBI Sequence Viewer  
  ADP91816 (Get FASTA)   NCBI Sequence Viewer  
  ADP91817 (Get FASTA)   NCBI Sequence Viewer  
  ADP91818 (Get FASTA)   NCBI Sequence Viewer  
  ADP91819 (Get FASTA)   NCBI Sequence Viewer  
  ADP91820 (Get FASTA)   NCBI Sequence Viewer  
  ADP91821 (Get FASTA)   NCBI Sequence Viewer  
  ADP91822 (Get FASTA)   NCBI Sequence Viewer  
  ADP91823 (Get FASTA)   NCBI Sequence Viewer  
  ADP91824 (Get FASTA)   NCBI Sequence Viewer  
  ADP91825 (Get FASTA)   NCBI Sequence Viewer  
  ADP91826 (Get FASTA)   NCBI Sequence Viewer  
  ADP91827 (Get FASTA)   NCBI Sequence Viewer  
  ADP91828 (Get FASTA)   NCBI Sequence Viewer  
  ADP91829 (Get FASTA)   NCBI Sequence Viewer  
  ADP91830 (Get FASTA)   NCBI Sequence Viewer  
  ADP91831 (Get FASTA)   NCBI Sequence Viewer  
  ADP91832 (Get FASTA)   NCBI Sequence Viewer  
  ADP91833 (Get FASTA)   NCBI Sequence Viewer  
  ADP91834 (Get FASTA)   NCBI Sequence Viewer  
  ADP91835 (Get FASTA)   NCBI Sequence Viewer  
  ADP91836 (Get FASTA)   NCBI Sequence Viewer  
  ADP91837 (Get FASTA)   NCBI Sequence Viewer  
  ADP91838 (Get FASTA)   NCBI Sequence Viewer  
  ADP91839 (Get FASTA)   NCBI Sequence Viewer  
  ADP91840 (Get FASTA)   NCBI Sequence Viewer  
  ADP91841 (Get FASTA)   NCBI Sequence Viewer  
  ADP91842 (Get FASTA)   NCBI Sequence Viewer  
  ADP91843 (Get FASTA)   NCBI Sequence Viewer  
  ADP91844 (Get FASTA)   NCBI Sequence Viewer  
  ADP91845 (Get FASTA)   NCBI Sequence Viewer  
  ADP91846 (Get FASTA)   NCBI Sequence Viewer  
  ADP91847 (Get FASTA)   NCBI Sequence Viewer  
  ADP91848 (Get FASTA)   NCBI Sequence Viewer  
  ADP91849 (Get FASTA)   NCBI Sequence Viewer  
  ADP91850 (Get FASTA)   NCBI Sequence Viewer  
  ADP91851 (Get FASTA)   NCBI Sequence Viewer  
  ADP91852 (Get FASTA)   NCBI Sequence Viewer  
  ADP91853 (Get FASTA)   NCBI Sequence Viewer  
  BAG62333 (Get FASTA)   NCBI Sequence Viewer  
  BAJ05798 (Get FASTA)   NCBI Sequence Viewer  
  CAB02492 (Get FASTA)   NCBI Sequence Viewer  
  EAW98218 (Get FASTA)   NCBI Sequence Viewer  
  P16219 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_000008   ⟸   NM_000017
- Peptide Label: isoform 1 precursor
- UniProtKB: P16219 (UniProtKB/Swiss-Prot),   E5KSD5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001289483   ⟸   NM_001302554
- Peptide Label: isoform 2 precursor
- UniProtKB: P16219 (UniProtKB/Swiss-Prot),   B4DUH1 (UniProtKB/TrEMBL),   E9PE82 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000401045   ⟸   ENST00000411593
RefSeq Acc Id: ENSP00000242592   ⟸   ENST00000242592
Protein Domains
Acyl-CoA_dh_1   Acyl-CoA_dh_M   Acyl-CoA_dh_N

Promoters
RGD ID:6789622
Promoter ID:HG_KWN:16840
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:NM_000017
Position:
Human AssemblyChrPosition (strand)Source
Build 3612119,647,796 - 119,648,296 (+)MPROMDB
RGD ID:6810215
Promoter ID:HG_ACW:19334
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:ACADS.BAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 3612119,648,326 - 119,648,826 (+)MPROMDB
RGD ID:7225631
Promoter ID:EPDNEW_H18561
Type:initiation region
Name:ACADS_1
Description:acyl-CoA dehydrogenase, C-2 to C-3 short chain
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
GRCh3812120,725,826 - 120,725,886EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000017.4(ACADS):c.364C>T (p.Leu122Phe) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000546742] Chr12:120737359 [GRCh38]
Chr12:121175162 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.164C>T (p.Pro55Leu) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000023585] Chr12:120727143 [GRCh38]
Chr12:121164946 [GRCh37]
Chr12:12q24.31
pathogenic|likely pathogenic
NM_000017.4(ACADS):c.1031A>G (p.Glu344Gly) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000023586] Chr12:120739141 [GRCh38]
Chr12:121176944 [GRCh37]
Chr12:12q24.31
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000017.4(ACADS):c.323G>A (p.Gly108Asp) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000023587] Chr12:120737098 [GRCh38]
Chr12:121174901 [GRCh37]
Chr12:12q24.31
pathogenic|uncertain significance
NM_000017.4(ACADS):c.136C>T (p.Arg46Trp) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000004029]|not provided [RCV000185706] Chr12:120727115 [GRCh38]
Chr12:121164918 [GRCh37]
Chr12:12q24.31
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000017.4(ACADS):c.319C>T (p.Arg107Cys) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000004030]|not provided [RCV000185680] Chr12:120737094 [GRCh38]
Chr12:121174897 [GRCh37]
Chr12:12q24.31
pathogenic|conflicting interpretations of pathogenicity
NM_000017.4(ACADS):c.274G>T (p.Gly92Cys) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000004031] Chr12:120737049 [GRCh38]
Chr12:121174852 [GRCh37]
Chr12:12q24.31
pathogenic|uncertain significance
NM_000017.4(ACADS):c.529T>C (p.Trp177Arg) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000004032]|not provided [RCV000185684] Chr12:120737893 [GRCh38]
Chr12:121175696 [GRCh37]
Chr12:12q24.31
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000017.4(ACADS):c.1147C>T (p.Arg383Cys) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000004033]|not provided [RCV000185700] Chr12:120739356 [GRCh38]
Chr12:121177159 [GRCh37]
Chr12:12q24.31
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000017.4(ACADS):c.511C>T (p.Arg171Trp) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000004034]|not provided [RCV000185683] Chr12:120737875 [GRCh38]
Chr12:121175678 [GRCh37]
Chr12:12q24.31
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided
NM_000017.4(ACADS):c.625G>A (p.Gly209Ser) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000004035]|not provided [RCV000185685]|not specified [RCV000077896] Chr12:120738280 [GRCh38]
Chr12:121176083 [GRCh37]
Chr12:12q24.31
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided
NM_000017.4(ACADS):c.268G>A (p.Gly90Ser) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000004036] Chr12:120737043 [GRCh38]
Chr12:121174846 [GRCh37]
Chr12:12q24.31
pathogenic|uncertain significance
NM_000017.4(ACADS):c.307_309GAG[1] (p.Glu104del) microsatellite Deficiency of butyryl-CoA dehydrogenase [RCV000004037]|not provided [RCV000185702] Chr12:120737081..120737083 [GRCh38]
Chr12:121174884..121174886 [GRCh37]
Chr12:12q24.31
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000017.4(ACADS):c.575C>T (p.Ala192Val) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000004038] Chr12:120737939 [GRCh38]
Chr12:121175742 [GRCh37]
Chr12:12q24.31
pathogenic|uncertain significance
NM_000017.4(ACADS):c.973C>T (p.Arg325Trp) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000004039]|not provided [RCV000185689] Chr12:120738859 [GRCh38]
Chr12:121176662 [GRCh37]
Chr12:12q24.31
pathogenic|uncertain significance
NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000004040]|not provided [RCV000185693] Chr12:120739168 [GRCh38]
Chr12:121176971 [GRCh37]
Chr12:12q24.31
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000017.4(ACADS):c.1138C>T (p.Arg380Trp) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000004041]|not provided [RCV000185699] Chr12:120739347 [GRCh38]
Chr12:121177150 [GRCh37]
Chr12:12q24.31
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000017.4(ACADS):c.380T>C (p.Ile127Thr) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000556872] Chr12:120737375 [GRCh38]
Chr12:121175178 [GRCh37]
Chr12:12q24.31
uncertain significance
GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3 copy number gain See cases [RCV000050866] Chr12:118165459..133182322 [GRCh38]
Chr12:118603264..133758908 [GRCh37]
Chr12:117087647..132268981 [NCBI36]
Chr12:12q24.23-24.33
pathogenic
GRCh38/hg38 12q24.31(chr12:120504068-122459718)x1 copy number loss See cases [RCV000051342] Chr12:120504068..122459718 [GRCh38]
Chr12:120941871..122944265 [GRCh37]
Chr12:119426254..121510218 [NCBI36]
Chr12:12q24.31
pathogenic
GRCh38/hg38 12q24.23-24.31(chr12:119286893-122638552)x3 copy number gain See cases [RCV000051981] Chr12:119286893..122638552 [GRCh38]
Chr12:119724698..123123099 [GRCh37]
Chr12:118209081..121689052 [NCBI36]
Chr12:12q24.23-24.31
uncertain significance
NM_000017.4(ACADS):c.*5G>A single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000393065]|not specified [RCV000173614] Chr12:120739453 [GRCh38]
Chr12:121177256 [GRCh37]
Chr12:12q24.31
benign|likely benign
GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3 copy number gain See cases [RCV000053689] Chr12:115131583..133166920 [GRCh38]
Chr12:115569388..133743506 [GRCh37]
Chr12:114053771..132253579 [NCBI36]
Chr12:12q24.21-24.33
pathogenic
GRCh38/hg38 12q24.23-24.33(chr12:119417382-133191400)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053691]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053691]|See cases [RCV000053691] Chr12:119417382..133191400 [GRCh38]
Chr12:119855187..133767986 [GRCh37]
Chr12:118339570..132278059 [NCBI36]
Chr12:12q24.23-24.33
pathogenic
NM_000017.4(ACADS):c.321T>C (p.Arg107=) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000263245]|not specified [RCV000123476] Chr12:120737096 [GRCh38]
Chr12:121174899 [GRCh37]
Chr12:12q24.31
benign
NM_000017.4(ACADS):c.990C>T (p.Arg330=) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000334430]|not specified [RCV000123477] Chr12:120738876 [GRCh38]
Chr12:121176679 [GRCh37]
Chr12:12q24.31
benign
NM_000017.4(ACADS):c.654_655delinsCT (p.Thr219Ser) indel Deficiency of butyryl-CoA dehydrogenase [RCV001047285] Chr12:120738309..120738310 [GRCh38]
Chr12:121176112..121176113 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.360C>T (p.Asn120=) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000266722]|not specified [RCV000176962] Chr12:120737135 [GRCh38]
Chr12:121174938 [GRCh37]
Chr12:12q24.31
benign|likely benign
NM_000017.4(ACADS):c.423G>A (p.Thr141=) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000324067]|not specified [RCV000178020] Chr12:120737418 [GRCh38]
Chr12:121175221 [GRCh37]
Chr12:12q24.31
benign|likely benign|conflicting interpretations of pathogenicity
GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3 copy number gain See cases [RCV000137651] Chr12:120697672..133202490 [GRCh38]
Chr12:121135475..133779076 [GRCh37]
Chr12:119619858..132289149 [NCBI36]
Chr12:12q24.31-24.33
pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33
pathogenic
GRCh38/hg38 12q24.31-24.32(chr12:120718786-127500215)x1 copy number loss See cases [RCV000142454] Chr12:120718786..127500215 [GRCh38]
Chr12:121156589..127984760 [GRCh37]
Chr12:119640972..126550713 [NCBI36]
Chr12:12q24.31-24.32
pathogenic
GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3 copy number gain See cases [RCV000143656] Chr12:114268403..133201316 [GRCh38]
Chr12:114706208..133777902 [GRCh37]
Chr12:113190591..132287975 [NCBI36]
Chr12:12q24.21-24.33
pathogenic
NM_000017.4(ACADS):c.409C>T (p.Gln137Ter) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000169493] Chr12:120737404 [GRCh38]
Chr12:121175207 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_000017.4(ACADS):c.682_683del (p.Glu228fs) deletion Deficiency of butyryl-CoA dehydrogenase [RCV000169499]|not provided [RCV000185707] Chr12:120738336..120738337 [GRCh38]
Chr12:121176139..121176140 [GRCh37]
Chr12:12q24.31
pathogenic|likely pathogenic
NM_000017.4(ACADS):c.656C>T (p.Thr219Met) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV001226765] Chr12:120738311 [GRCh38]
Chr12:121176114 [GRCh37]
Chr12:12q24.31
likely benign|uncertain significance
NM_000017.3(ACADS):c.740G>C (p.Arg247Pro) single nucleotide variant not specified [RCV000185686] Chr12:120738395 [GRCh38]
Chr12:121176198 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.3(ACADS):c.1039A>G (p.Met347Val) single nucleotide variant not specified [RCV000185691] Chr12:120739149 [GRCh38]
Chr12:121176952 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.47C>T (p.Ala16Val) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV001045267] Chr12:120727026 [GRCh38]
Chr12:121164829 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.332C>T (p.Ser111Phe) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV001232488] Chr12:120737107 [GRCh38]
Chr12:121174910 [GRCh37]
Chr12:12q24.31
likely pathogenic|uncertain significance
NM_000017.4(ACADS):c.481A>G (p.Ser161Gly) single nucleotide variant not provided [RCV000185682] Chr12:120737845 [GRCh38]
Chr12:121175648 [GRCh37]
Chr12:12q24.31
likely pathogenic|uncertain significance
NM_000017.4(ACADS):c.812G>T (p.Gly271Val) single nucleotide variant not provided [RCV000185687] Chr12:120738549 [GRCh38]
Chr12:121176352 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_000017.4(ACADS):c.815G>A (p.Arg272His) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000664591]|not provided [RCV000185688] Chr12:120738552 [GRCh38]
Chr12:121176355 [GRCh37]
Chr12:12q24.31
pathogenic|likely pathogenic|uncertain significance
NM_000017.4(ACADS):c.988C>T (p.Arg330Cys) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000762888]|not provided [RCV000185690] Chr12:120738874 [GRCh38]
Chr12:121176677 [GRCh37]
Chr12:12q24.31
pathogenic|likely pathogenic
NM_000017.4(ACADS):c.1057T>C (p.Ser353Pro) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000673078] Chr12:120739167 [GRCh38]
Chr12:121176970 [GRCh37]
Chr12:12q24.31
pathogenic|uncertain significance
NM_000017.4(ACADS):c.1095G>T (p.Gln365His) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000411694]|not provided [RCV000185694] Chr12:120739304 [GRCh38]
Chr12:121177107 [GRCh37]
Chr12:12q24.31
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000017.4(ACADS):c.1105G>A (p.Gly369Ser) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV001215716]|not provided [RCV000185695] Chr12:120739314 [GRCh38]
Chr12:121177117 [GRCh37]
Chr12:12q24.31
likely pathogenic|uncertain significance
NM_000017.4(ACADS):c.1108A>G (p.Met370Val) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000301353]|Type 2 diabetes mellitus [RCV001258242]|not specified [RCV000185696] Chr12:120739317 [GRCh38]
Chr12:121177120 [GRCh37]
Chr12:12q24.31
pathogenic|likely benign|uncertain significance
NM_000017.4(ACADS):c.1112G>T (p.Gly371Val) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000675052]|not provided [RCV000185697] Chr12:120739321 [GRCh38]
Chr12:121177124 [GRCh37]
Chr12:12q24.31
pathogenic|uncertain significance
NM_000017.3(ACADS):c.1138C>G (p.Arg380Gly) single nucleotide variant not provided [RCV000185698] Chr12:120739347 [GRCh38]
Chr12:121177150 [GRCh37]
Chr12:12q24.31
pathogenic
NM_000017.3(ACADS):c.1153G>A (p.Ala385Thr) single nucleotide variant not provided [RCV000185701] Chr12:120739362 [GRCh38]
Chr12:121177165 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_000017.4(ACADS):c.1156C>T (p.Arg386Cys) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000635335]|not provided [RCV000185703] Chr12:120739365 [GRCh38]
Chr12:121177168 [GRCh37]
Chr12:12q24.31
likely pathogenic|uncertain significance
NM_000017.3(ACADS):c.1157G>A (p.Arg386His) single nucleotide variant not provided [RCV000185704] Chr12:120739366 [GRCh38]
Chr12:121177169 [GRCh37]
Chr12:12q24.31
pathogenic
NM_000017.4(ACADS):c.988_990delinsTGT (p.Arg330Cys) indel Deficiency of butyryl-CoA dehydrogenase [RCV000984237]|not provided [RCV000185708] Chr12:120738874..120738876 [GRCh38]
Chr12:121176677..121176679 [GRCh37]
Chr12:12q24.31
pathogenic|likely pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic|likely pathogenic
NM_000017.4(ACADS):c.460C>T (p.Leu154Phe) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000549650] Chr12:120737455 [GRCh38]
Chr12:121175258 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.314T>A (p.Ile105Asn) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000557871] Chr12:120737089 [GRCh38]
Chr12:121174892 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.820G>A (p.Gly274Ser) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000675088]|not provided [RCV000338902] Chr12:120738557 [GRCh38]
Chr12:121176360 [GRCh37]
Chr12:12q24.31
pathogenic|uncertain significance
NM_000017.4(ACADS):c.29_35dup (p.Ala13fs) duplication Deficiency of butyryl-CoA dehydrogenase [RCV000669021] Chr12:120725913..120725914 [GRCh38]
Chr12:121163716..121163717 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_000017.4(ACADS):c.949_954dup (p.Met317_Ala318dup) duplication Deficiency of butyryl-CoA dehydrogenase [RCV000669621] Chr12:120738833..120738834 [GRCh38]
Chr12:121176636..121176637 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.1086+1del deletion Deficiency of butyryl-CoA dehydrogenase [RCV000669667] Chr12:120739196 [GRCh38]
Chr12:121176999 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_000017.4(ACADS):c.360+21C>G single nucleotide variant not specified [RCV000243760] Chr12:120737156 [GRCh38]
Chr12:121174959 [GRCh37]
Chr12:12q24.31
likely benign
NM_000017.4(ACADS):c.*4C>T single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000358388]|not specified [RCV000246801] Chr12:120739452 [GRCh38]
Chr12:121177255 [GRCh37]
Chr12:12q24.31
likely benign|uncertain significance
NM_000017.4(ACADS):c.*21G>C single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000304984]|not specified [RCV000243252] Chr12:120739469 [GRCh38]
Chr12:121177272 [GRCh37]
Chr12:12q24.31
benign
NM_000017.4(ACADS):c.1104C>T (p.Gly368=) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000400170]|not provided [RCV000905381] Chr12:120739313 [GRCh38]
Chr12:121177116 [GRCh37]
Chr12:12q24.31
likely benign|uncertain significance
NM_000017.4(ACADS):c.*200C>T single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000273283] Chr12:120739648 [GRCh38]
Chr12:121177451 [GRCh37]
Chr12:12q24.31
likely benign|uncertain significance
NM_000017.4(ACADS):c.465C>T (p.Ser155=) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000381033]|not specified [RCV000432307] Chr12:120737460 [GRCh38]
Chr12:121175263 [GRCh37]
Chr12:12q24.31
likely benign|uncertain significance
NM_000017.4(ACADS):c.624+11C>T single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000292410] Chr12:120737999 [GRCh38]
Chr12:121175802 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.825C>T (p.Ile275=) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000295838] Chr12:120738562 [GRCh38]
Chr12:121176365 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.*310C>G single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000295476] Chr12:120739758 [GRCh38]
Chr12:121177561 [GRCh37]
Chr12:12q24.31
benign|likely benign
NM_000017.4(ACADS):c.*527A>G single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000280186] Chr12:120739975 [GRCh38]
Chr12:121177778 [GRCh37]
Chr12:12q24.31
benign
NM_000017.4(ACADS):c.*27C>T single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000361944] Chr12:120739475 [GRCh38]
Chr12:121177278 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.-56C>G single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000297447] Chr12:120725830 [GRCh38]
Chr12:121163633 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.*91G>T single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000269775] Chr12:120739539 [GRCh38]
Chr12:121177342 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.*500G>A single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000372317] Chr12:120739948 [GRCh38]
Chr12:121177751 [GRCh37]
Chr12:12q24.31
benign|likely benign
NM_000017.4(ACADS):c.*115G>A single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000327198] Chr12:120739563 [GRCh38]
Chr12:121177366 [GRCh37]
Chr12:12q24.31
benign|likely benign
NM_000017.4(ACADS):c.147C>G (p.Ala49=) single nucleotide variant not provided [RCV000348519] Chr12:120727126 [GRCh38]
Chr12:121164929 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.796-14G>C single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000401044]|not specified [RCV000437512] Chr12:120738519 [GRCh38]
Chr12:121176322 [GRCh37]
Chr12:12q24.31
likely benign|uncertain significance
NM_000017.4(ACADS):c.336C>T (p.Thr112=) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000377601] Chr12:120737111 [GRCh38]
Chr12:121174914 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.*249G>A single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000330669] Chr12:120739697 [GRCh38]
Chr12:121177500 [GRCh37]
Chr12:12q24.31
benign|likely benign
NM_000017.4(ACADS):c.*387A>G single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000334122] Chr12:120739835 [GRCh38]
Chr12:121177638 [GRCh37]
Chr12:12q24.31
benign|likely benign
NM_000017.4(ACADS):c.-56C>T single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000357002] Chr12:120725830 [GRCh38]
Chr12:121163633 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.624+8C>T single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000384415]|not specified [RCV000440480] Chr12:120737996 [GRCh38]
Chr12:121175799 [GRCh37]
Chr12:12q24.31
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000017.4(ACADS):c.*266G>T single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000387438] Chr12:120739714 [GRCh38]
Chr12:121177517 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.567C>G (p.Ala189=) single nucleotide variant not provided [RCV000298033] Chr12:120737931 [GRCh38]
Chr12:121175734 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.302C>T (p.Ala101Val) single nucleotide variant not provided [RCV000489562] Chr12:120737077 [GRCh38]
Chr12:121174880 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_000017.4(ACADS):c.1130C>T (p.Pro377Leu) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000635337]|not provided [RCV000489608] Chr12:120739339 [GRCh38]
Chr12:121177142 [GRCh37]
Chr12:12q24.31
likely pathogenic|uncertain significance
NM_000017.4(ACADS):c.*174G>C single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000365000] Chr12:120739622 [GRCh38]
Chr12:121177425 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.552C>T (p.Ala184=) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000327427] Chr12:120737916 [GRCh38]
Chr12:121175719 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.974G>A (p.Arg325Gln) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000671262]|not provided [RCV000521041] Chr12:120738860 [GRCh38]
Chr12:121176663 [GRCh37]
Chr12:12q24.31
likely pathogenic|uncertain significance
GRCh37/hg19 12q24.31(chr12:121017665-121496723)x3 copy number gain not provided [RCV000585446] Chr12:121017665..121496723 [GRCh37]
Chr12:12q24.31
likely benign
NM_000017.4(ACADS):c.211-1G>A single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000409068] Chr12:120736985 [GRCh38]
Chr12:121174788 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_000017.4(ACADS):c.527C>A (p.Ser176Ter) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000409256] Chr12:120737891 [GRCh38]
Chr12:121175694 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_000017.4(ACADS):c.125_135del (p.Leu42fs) deletion Deficiency of butyryl-CoA dehydrogenase [RCV000409347] Chr12:120727101..120727111 [GRCh38]
Chr12:121164904..121164914 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_000017.4(ACADS):c.1164_1165del (p.Glu389fs) deletion Deficiency of butyryl-CoA dehydrogenase [RCV000409490] Chr12:120739373..120739374 [GRCh38]
Chr12:121177176..121177177 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_000017.4(ACADS):c.1084C>T (p.Gln362Ter) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000409699] Chr12:120739194 [GRCh38]
Chr12:121176997 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_000017.4(ACADS):c.417G>A (p.Trp139Ter) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000409721] Chr12:120737412 [GRCh38]
Chr12:121175215 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_000017.4(ACADS):c.910dup (p.Leu304fs) duplication Deficiency of butyryl-CoA dehydrogenase [RCV000409916] Chr12:120738643..120738644 [GRCh38]
Chr12:121176446..121176447 [GRCh37]
Chr12:12q24.31
likely pathogenic|conflicting interpretations of pathogenicity
NM_000017.4(ACADS):c.593_594del (p.Phe198fs) deletion Deficiency of butyryl-CoA dehydrogenase [RCV000410200] Chr12:120737956..120737957 [GRCh38]
Chr12:121175759..121175760 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_000017.4(ACADS):c.32del (p.Gly11fs) deletion Deficiency of butyryl-CoA dehydrogenase [RCV000410482] Chr12:120725915 [GRCh38]
Chr12:121163718 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_000017.4(ACADS):c.473-2A>G single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000410685] Chr12:120737835 [GRCh38]
Chr12:121175638 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_000017.4(ACADS):c.1031del (p.Glu344fs) deletion Deficiency of butyryl-CoA dehydrogenase [RCV000411215] Chr12:120739141 [GRCh38]
Chr12:121176944 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_000017.4(ACADS):c.675dup (p.Lys226fs) duplication Deficiency of butyryl-CoA dehydrogenase [RCV000411237] Chr12:120738326..120738327 [GRCh38]
Chr12:121176129..121176130 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_000017.4(ACADS):c.315del (p.Ser106fs) deletion Deficiency of butyryl-CoA dehydrogenase [RCV000411417] Chr12:120737090 [GRCh38]
Chr12:121174893 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_000017.4(ACADS):c.1029+1G>A single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000411853] Chr12:120738916 [GRCh38]
Chr12:121176719 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_000017.4(ACADS):c.369C>G (p.Tyr123Ter) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000411998]|not provided [RCV000431788] Chr12:120737364 [GRCh38]
Chr12:121175167 [GRCh37]
Chr12:12q24.31
pathogenic|likely pathogenic
NM_000017.4(ACADS):c.417G>C (p.Trp139Cys) single nucleotide variant not provided [RCV000727659] Chr12:120737412 [GRCh38]
Chr12:121175215 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_000017.4(ACADS):c.322G>A (p.Gly108Ser) single nucleotide variant not provided [RCV000442937] Chr12:120737097 [GRCh38]
Chr12:121174900 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_000017.4(ACADS):c.814C>T (p.Arg272Cys) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000635334]|not provided [RCV000443456] Chr12:120738551 [GRCh38]
Chr12:121176354 [GRCh37]
Chr12:12q24.31
likely pathogenic|uncertain significance
NM_000017.4(ACADS):c.461T>G (p.Leu154Arg) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000687693]|not provided [RCV000424574] Chr12:120737456 [GRCh38]
Chr12:121175259 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.1153G>T (p.Ala385Ser) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000675060]|not provided [RCV000419832] Chr12:120739362 [GRCh38]
Chr12:121177165 [GRCh37]
Chr12:12q24.31
pathogenic|uncertain significance
NM_000017.4(ACADS):c.1192C>T (p.Gln398Ter) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000509385]|not provided [RCV000424844] Chr12:120739401 [GRCh38]
Chr12:121177204 [GRCh37]
Chr12:12q24.31
likely pathogenic|uncertain significance|not provided
NM_000017.4(ACADS):c.449G>T (p.Gly150Val) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV001244407]|not provided [RCV000432974] Chr12:120737444 [GRCh38]
Chr12:121175247 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.238del (p.Leu80fs) deletion not provided [RCV000478485] Chr12:120737013 [GRCh38]
Chr12:121174816 [GRCh37]
Chr12:12q24.31
pathogenic
NM_000017.4(ACADS):c.425C>G (p.Pro142Arg) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000635338]|not provided [RCV000482304] Chr12:120737420 [GRCh38]
Chr12:121175223 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.319_321delinsTGC (p.Arg107Cys) indel not provided [RCV000486356] Chr12:120737094..120737096 [GRCh38]
Chr12:121174897..121174899 [GRCh37]
Chr12:12q24.31
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
NM_000017.4(ACADS):c.989_990delinsAT (p.Arg330His) indel Deficiency of butyryl-CoA dehydrogenase [RCV000984238]|not provided [RCV000497466] Chr12:120738875..120738876 [GRCh38]
Chr12:121176678..121176679 [GRCh37]
Chr12:12q24.31
likely pathogenic|uncertain significance
NM_000017.4(ACADS):c.328G>A (p.Ala110Thr) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000671132]|not provided [RCV000497900] Chr12:120737103 [GRCh38]
Chr12:121174906 [GRCh37]
Chr12:12q24.31
likely pathogenic|uncertain significance
NM_000017.4(ACADS):c.1054G>A (p.Ala352Thr) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000673648]|not provided [RCV000498121] Chr12:120739164 [GRCh38]
Chr12:121176967 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.313A>T (p.Ile105Phe) single nucleotide variant not provided [RCV000492900] Chr12:120737088 [GRCh38]
Chr12:121174891 [GRCh37]
Chr12:12q24.31
likely pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
NM_000017.4(ACADS):c.1198C>G (p.Leu400Val) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000635339] Chr12:120739407 [GRCh38]
Chr12:121177210 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.204G>A (p.Ala68=) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000635340] Chr12:120727183 [GRCh38]
Chr12:121164986 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.868G>C (p.Ala290Pro) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000635341] Chr12:120738605 [GRCh38]
Chr12:121176408 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.859C>T (p.Leu287Phe) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000635342] Chr12:120738596 [GRCh38]
Chr12:121176399 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.304A>G (p.Met102Val) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000635343] Chr12:120737079 [GRCh38]
Chr12:121174882 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.821G>A (p.Gly274Asp) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000527693] Chr12:120738558 [GRCh38]
Chr12:121176361 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.1084C>G (p.Gln362Glu) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000635332] Chr12:120739194 [GRCh38]
Chr12:121176997 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.1102G>A (p.Gly368Ser) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000635333] Chr12:120739311 [GRCh38]
Chr12:121177114 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.67C>T (p.Arg23Trp) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000635336] Chr12:120727046 [GRCh38]
Chr12:121164849 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.682G>A (p.Glu228Lys) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000664602] Chr12:120738337 [GRCh38]
Chr12:121176140 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.1213del (p.His405fs) deletion Deficiency of butyryl-CoA dehydrogenase [RCV000672427] Chr12:120739422 [GRCh38]
Chr12:121177225 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.431C>T (p.Thr144Ile) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000671239] Chr12:120737426 [GRCh38]
Chr12:121175229 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.842G>C (p.Gly281Ala) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000665215] Chr12:120738579 [GRCh38]
Chr12:121176382 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.1231C>T (p.Arg411Trp) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000673820] Chr12:120739440 [GRCh38]
Chr12:121177243 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.995C>T (p.Ala332Val) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000667047] Chr12:120738881 [GRCh38]
Chr12:121176684 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.945_953del (p.Asp316_Ala318del) deletion Deficiency of butyryl-CoA dehydrogenase [RCV000674073] Chr12:120738827..120738835 [GRCh38]
Chr12:121176630..121176638 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.505A>C (p.Thr169Pro) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000666229] Chr12:120737869 [GRCh38]
Chr12:121175672 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.826G>A (p.Ala276Thr) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000664997]|not provided [RCV001091860] Chr12:120738563 [GRCh38]
Chr12:121176366 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.107dup (p.Thr37fs) duplication Deficiency of butyryl-CoA dehydrogenase [RCV000665234] Chr12:120727085..120727086 [GRCh38]
Chr12:121164888..121164889 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_000017.4(ACADS):c.1148G>A (p.Arg383His) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000671248] Chr12:120739357 [GRCh38]
Chr12:121177160 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.991G>A (p.Ala331Thr) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000674029] Chr12:120738877 [GRCh38]
Chr12:121176680 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.1086+1G>A single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000667437] Chr12:120739197 [GRCh38]
Chr12:121177000 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_000017.4(ACADS):c.700C>T (p.Arg234Trp) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000667477] Chr12:120738355 [GRCh38]
Chr12:121176158 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.981_983del (p.Thr328del) deletion Deficiency of butyryl-CoA dehydrogenase [RCV000674364] Chr12:120738867..120738869 [GRCh38]
Chr12:121176670..121176672 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.1030-1G>A single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000674529] Chr12:120739139 [GRCh38]
Chr12:121176942 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_000017.4(ACADS):c.1066G>A (p.Ala356Thr) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000671086] Chr12:120739176 [GRCh38]
Chr12:121176979 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.1086+1G>T single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000671102] Chr12:120739197 [GRCh38]
Chr12:121177000 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_000017.4(ACADS):c.326_328del (p.Cys109_Ala110delinsSer) deletion Deficiency of butyryl-CoA dehydrogenase [RCV000667798] Chr12:120737101..120737103 [GRCh38]
Chr12:121174904..121174906 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.47-6C>A single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000665809] Chr12:120727020 [GRCh38]
Chr12:121164823 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.1A>G (p.Met1Val) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000667970] Chr12:120725886 [GRCh38]
Chr12:121163689 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_000017.4(ACADS):c.1146C>A (p.Tyr382Ter) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000673261] Chr12:120739355 [GRCh38]
Chr12:121177158 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.1182del (p.Ser395fs) deletion Deficiency of butyryl-CoA dehydrogenase [RCV000666603] Chr12:120739390 [GRCh38]
Chr12:121177193 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.463_465dup (p.Ser155dup) duplication Deficiency of butyryl-CoA dehydrogenase [RCV000674661] Chr12:120737456..120737457 [GRCh38]
Chr12:121175259..121175260 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.277C>A (p.Leu93Ile) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000668587] Chr12:120737052 [GRCh38]
Chr12:121174855 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.989G>A (p.Arg330His) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000673525] Chr12:120738875 [GRCh38]
Chr12:121176678 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.460_461insAAC (p.Leu154_Ser155insGln) insertion Deficiency of butyryl-CoA dehydrogenase [RCV000665149] Chr12:120737454..120737455 [GRCh38]
Chr12:121175257..121175258 [GRCh37]
Chr12:12q24.31
uncertain significance
GRCh37/hg19 12q24.31(chr12:121070791-121422367)x3 copy number gain not provided [RCV000683423] Chr12:121070791..121422367 [GRCh37]
Chr12:12q24.31
uncertain significance
GRCh37/hg19 12q24.23-24.31(chr12:120516089-121376736)x3 copy number gain not provided [RCV000683452] Chr12:120516089..121376736 [GRCh37]
Chr12:12q24.23-24.31
uncertain significance
NM_000017.4(ACADS):c.1064C>T (p.Ala355Val) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000685244] Chr12:120739174 [GRCh38]
Chr12:121176977 [GRCh37]
Chr12:12q24.31
uncertain significance
NC_000012.12:g.(?_120725866)_(120727209_?)del deletion Deficiency of butyryl-CoA dehydrogenase [RCV000707866] Chr12:120725866..120727209 [GRCh38]
Chr12:121163669..121165012 [GRCh37]
Chr12:12q24.31
uncertain significance
GRCh37/hg19 12q24.23-24.33(chr12:120367241-133777645)x3 copy number gain not provided [RCV000738070] Chr12:120367241..133777645 [GRCh37]
Chr12:12q24.23-24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
NM_000017.4(ACADS):c.596C>T (p.Ala199Val) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000761220] Chr12:120737960 [GRCh38]
Chr12:121175763 [GRCh37]
Chr12:12q24.31
likely pathogenic|conflicting interpretations of pathogenicity
NM_000017.4(ACADS):c.208C>T (p.Gln70Ter) single nucleotide variant not provided [RCV000994996] Chr12:120727187 [GRCh38]
Chr12:121164990 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_000017.4(ACADS):c.663G>T (p.Gly221=) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV001111593]|not provided [RCV000902516] Chr12:120738318 [GRCh38]
Chr12:121176121 [GRCh37]
Chr12:12q24.31
benign|uncertain significance
NM_000017.4(ACADS):c.1028A>G (p.Lys343Arg) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV001039671] Chr12:120738914 [GRCh38]
Chr12:121176717 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.1030-9C>T single nucleotide variant not provided [RCV000923943] Chr12:120739131 [GRCh38]
Chr12:121176934 [GRCh37]
Chr12:12q24.31
likely benign
NM_000017.4(ACADS):c.783C>T (p.Phe261=) single nucleotide variant not provided [RCV000872412] Chr12:120738438 [GRCh38]
Chr12:121176241 [GRCh37]
Chr12:12q24.31
benign
NM_000017.4(ACADS):c.625-1G>A single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000798177] Chr12:120738279 [GRCh38]
Chr12:121176082 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.473-116T>C single nucleotide variant not provided [RCV000835485] Chr12:120737721 [GRCh38]
Chr12:121175524 [GRCh37]
Chr12:12q24.31
benign
NM_000017.4(ACADS):c.508G>A (p.Ala170Thr) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000810546] Chr12:120737872 [GRCh38]
Chr12:121175675 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.673G>C (p.Gly225Arg) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000804184] Chr12:120738328 [GRCh38]
Chr12:121176131 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.668C>T (p.Thr223Met) single nucleotide variant not provided [RCV001091859] Chr12:120738323 [GRCh38]
Chr12:121176126 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.514dup (p.Ala172fs) duplication Deficiency of butyryl-CoA dehydrogenase [RCV001066866] Chr12:120737875..120737876 [GRCh38]
Chr12:121175678..121175679 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.1011C>G (p.Asn337Lys) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000797489] Chr12:120738897 [GRCh38]
Chr12:121176700 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.40C>G (p.Arg14Gly) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000804256] Chr12:120725925 [GRCh38]
Chr12:121163728 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.*162C>T single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV001115014] Chr12:120739610 [GRCh38]
Chr12:121177413 [GRCh37]
Chr12:12q24.31
uncertain significance
NC_000012.12:g.120740021G>C single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV001111695] Chr12:120740021 [GRCh38]
Chr12:121177824 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.221_222insCCAT (p.Met74fs) insertion Deficiency of butyryl-CoA dehydrogenase [RCV001208215] Chr12:120736994..120736995 [GRCh38]
Chr12:121174797..121174798 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.775A>G (p.Met259Val) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV001227315] Chr12:120738430 [GRCh38]
Chr12:121176233 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.962_973del (p.Leu321_Ala324del) deletion Deficiency of butyryl-CoA dehydrogenase [RCV001239435] Chr12:120738844..120738855 [GRCh38]
Chr12:121176647..121176658 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.856G>A (p.Ala286Thr) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV001223519] Chr12:120738593 [GRCh38]
Chr12:121176396 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.157T>G (p.Leu53Val) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV001225887] Chr12:120727136 [GRCh38]
Chr12:121164939 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.492_513del (p.Ala165fs) deletion Deficiency of butyryl-CoA dehydrogenase [RCV001226367] Chr12:120737854..120737875 [GRCh38]
Chr12:121175657..121175678 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.760C>G (p.Leu254Val) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV001242796] Chr12:120738415 [GRCh38]
Chr12:121176218 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.*86C>T single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV001115013] Chr12:120739534 [GRCh38]
Chr12:121177337 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.*305C>A single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV001109377] Chr12:120739753 [GRCh38]
Chr12:121177556 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.654A>C (p.Pro218=) single nucleotide variant not provided [RCV000895744] Chr12:120738309 [GRCh38]
Chr12:121176112 [GRCh37]
Chr12:12q24.31
benign
NM_000017.4(ACADS):c.655A>T (p.Thr219Ser) single nucleotide variant not provided [RCV000895745] Chr12:120738310 [GRCh38]
Chr12:121176113 [GRCh37]
Chr12:12q24.31
likely benign
NM_000017.4(ACADS):c.522C>T (p.Gly174=) single nucleotide variant not provided [RCV000952331] Chr12:120737886 [GRCh38]
Chr12:121175689 [GRCh37]
Chr12:12q24.31
benign
NM_000017.4(ACADS):c.1210G>A (p.Gly404Arg) single nucleotide variant not provided [RCV000872413] Chr12:120739419 [GRCh38]
Chr12:121177222 [GRCh37]
Chr12:12q24.31
likely benign
NM_000017.4(ACADS):c.669G>A (p.Thr223=) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV001111594]|not provided [RCV000951999] Chr12:120738324 [GRCh38]
Chr12:121176127 [GRCh37]
Chr12:12q24.31
likely benign|uncertain significance
NM_000017.4(ACADS):c.1053C>T (p.Ala351=) single nucleotide variant not provided [RCV000889018] Chr12:120739163 [GRCh38]
Chr12:121176966 [GRCh37]
Chr12:12q24.31
likely benign
NM_000017.4(ACADS):c.1207G>A (p.Ala403Thr) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV001034855] Chr12:120739416 [GRCh38]
Chr12:121177219 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.422C>T (p.Thr141Met) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV001244409] Chr12:120737417 [GRCh38]
Chr12:121175220 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.1030-3_1044dup duplication Deficiency of butyryl-CoA dehydrogenase [RCV001207784] Chr12:120739136..120739137 [GRCh38]
Chr12:121176939..121176940 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.327C>T (p.Cys109=) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV001114910] Chr12:120737102 [GRCh38]
Chr12:121174905 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.*37C>T single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV001115012] Chr12:120739485 [GRCh38]
Chr12:121177288 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.321_322inv (p.Gly108Ser) inversion Deficiency of butyryl-CoA dehydrogenase [RCV001245509] Chr12:120737096..120737097 [GRCh38]
Chr12:121174899..121174900 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.242C>T (p.Ala81Val) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV001217142] Chr12:120737017 [GRCh38]
Chr12:121174820 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.203C>T (p.Ala68Val) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV001043534] Chr12:120727182 [GRCh38]
Chr12:121164985 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.215_217AGA[1] (p.Lys73del) microsatellite Deficiency of butyryl-CoA dehydrogenase [RCV001069728] Chr12:120736988..120736990 [GRCh38]
Chr12:121174791..121174793 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.1050G>T (p.Leu350=) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV000913306] Chr12:120739160 [GRCh38]
Chr12:121176963 [GRCh37]
Chr12:12q24.31
likely benign
NM_000017.4(ACADS):c.906G>A (p.Ala302=) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV001111595] Chr12:120738643 [GRCh38]
Chr12:121176446 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.*235C>T single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV001109376] Chr12:120739683 [GRCh38]
Chr12:121177486 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.1209C>T (p.Ala403=) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV001112074] Chr12:120739418 [GRCh38]
Chr12:121177221 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.1135G>C (p.Glu379Gln) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV001112072] Chr12:120739344 [GRCh38]
Chr12:121177147 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.578C>T (p.Ser193Leu) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV001109264] Chr12:120737942 [GRCh38]
Chr12:121175745 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.602C>T (p.Thr201Met) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV001109265] Chr12:120737966 [GRCh38]
Chr12:121175769 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.*178C>T single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV001109375] Chr12:120739626 [GRCh38]
Chr12:121177429 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.*10G>A single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV001112075] Chr12:120739458 [GRCh38]
Chr12:121177261 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.934-5T>A single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV001250115] Chr12:120738815 [GRCh38]
Chr12:121176618 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_000017.4(ACADS):c.360+1G>A single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV001036681] Chr12:120737136 [GRCh38]
Chr12:121174939 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.473-9T>G single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV001114911] Chr12:120737828 [GRCh38]
Chr12:121175631 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.795+6C>T single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV001040370] Chr12:120738456 [GRCh38]
Chr12:121176259 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.497C>T (p.Ala166Val) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV001109261] Chr12:120737861 [GRCh38]
Chr12:121175664 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.508G>T (p.Ala170Ser) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV001109262] Chr12:120737872 [GRCh38]
Chr12:121175675 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.516C>T (p.Ala172=) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV001109263] Chr12:120737880 [GRCh38]
Chr12:121175683 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000017.4(ACADS):c.1148G>T (p.Arg383Leu) single nucleotide variant Deficiency of butyryl-CoA dehydrogenase [RCV001112073] Chr12:120739357 [GRCh38]
Chr12:121177160 [GRCh37]
Chr12:12q24.31
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:90 AgrOrtholog
COSMIC ACADS COSMIC
Ensembl Genes ENSG00000122971 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000242592 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000401045 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000242592 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000411593 ENTREZGENE, UniProtKB/TrEMBL
Gene3D-CATH 1.10.540.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000122971 GTEx
HGNC ID HGNC:90 ENTREZGENE
Human Proteome Map ACADS Human Proteome Map
InterPro Acyl-CoA_DH_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Acyl-CoA_Oxase/DH_cen-dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AcylCo_DH-like_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AcylCo_DH/oxidase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AcylCoA_DH/ox_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AcylCoA_DH/ox_N_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AcylCoA_DH/oxidase_NM_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:35 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 35 ENTREZGENE
OMIM 201470 OMIM
  606885 OMIM
Pfam Acyl-CoA_dh_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Acyl-CoA_dh_M UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Acyl-CoA_dh_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24426 PharmGKB
PROSITE ACYL_COA_DH_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ACYL_COA_DH_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47203 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56645 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt ACADS_HUMAN UniProtKB/Swiss-Prot
  B4DUH1 ENTREZGENE, UniProtKB/TrEMBL
  D4QEZ8_HUMAN UniProtKB/TrEMBL
  E5KSD5 ENTREZGENE, UniProtKB/TrEMBL
  E9PE82 ENTREZGENE, UniProtKB/TrEMBL
  P16219 ENTREZGENE
UniProt Secondary P78331 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-10-04 ACADS  acyl-CoA dehydrogenase short chain    acyl-CoA dehydrogenase, C-2 to C-3 short chain  Symbol and/or name change 5135510 APPROVED
2011-08-16 ACADS  acyl-CoA dehydrogenase, C-2 to C-3 short chain  ACADS  acyl-CoA dehydrogenase, C-2 to C-3 short chain  Symbol and/or name change 5135510 APPROVED
2011-07-27 ACADS  acyl-CoA dehydrogenase, C-2 to C-3 short chain  ACADS  acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain  Symbol and/or name change 5135510 APPROVED