ACADSB (acyl-CoA dehydrogenase short/branched chain) - Rat Genome Database
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Gene: ACADSB (acyl-CoA dehydrogenase short/branched chain) Homo sapiens
Analyze
Symbol: ACADSB
Name: acyl-CoA dehydrogenase short/branched chain
RGD ID: 735869
HGNC Page HGNC
Description: Predicted to have short-branched-chain-acyl-CoA dehydrogenase activity. Predicted to be involved in acyl-CoA metabolic process. Localizes to mitochondrion.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 2-MEBCAD; 2-methyl branched chain acyl-CoA dehydrogenase; 2-methylbutyryl-coenzyme A dehydrogenase; ACAD7; acyl-CoA dehydrogenase, short/branched chain; acyl-Coenzyme A dehydrogenase, short/branched chain; SBCAD; short/branched chain specific acyl-CoA dehydrogenase, mitochondrial
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 Ensembl10123,008,979 - 123,058,311 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl10123,008,979 - 123,058,290 (+)EnsemblGRCh38hg38GRCh38
GRCh3810123,009,006 - 123,058,290 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3710124,768,429 - 124,817,806 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh3710124,768,522 - 124,817,806 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3610124,758,419 - 124,807,796 (+)NCBINCBI36hg18NCBI36
Build 3410124,758,523 - 124,807,795NCBI
Celera10118,474,901 - 118,524,347 (+)NCBI
Cytogenetic Map10q26.13NCBI
HuRef10118,386,177 - 118,435,556 (+)NCBIHuRef
CHM1_110125,050,159 - 125,099,529 (+)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
(+)-dexrazoxane  (ISO)
(+)-schisandrin B  (ISO)
(-)-epigallocatechin 3-gallate  (ISO)
1,2-dichloroethane  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
Aroclor 1254  (ISO)
belinostat  (EXP)
benzo[a]pyrene  (EXP,ISO)
Benzo[ghi]perylene  (ISO)
bisphenol A  (EXP,ISO)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
calcitriol  (EXP)
chenodeoxycholic acid  (EXP)
clofibrate  (ISO)
clorgyline  (EXP)
cobalt dichloride  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP,ISO)
dextran sulfate  (ISO)
dioxygen  (ISO)
dorsomorphin  (EXP)
entinostat  (EXP)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
lamivudine  (ISO)
methapyrilene  (ISO)
methyl methanesulfonate  (EXP)
Methylazoxymethanol acetate  (ISO)
methylmercury chloride  (EXP)
N-nitrosomorpholine  (ISO)
p-chloromercuribenzoic acid  (EXP)
paracetamol  (EXP,ISO)
PCB138  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP,ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
potassium chromate  (EXP)
quercetin  (EXP)
resveratrol  (ISO)
rotenone  (ISO)
SB 431542  (EXP)
sodium arsenite  (ISO)
sodium dichromate  (ISO)
tamoxifen  (ISO)
Tesaglitazar  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
titanium dioxide  (ISO)
topiramate  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
tungsten  (ISO)
valproic acid  (EXP)
vancomycin  (ISO)
zidovudine  (ISO)
zinc atom  (EXP,ISO)
zinc sulfate  (ISO)
zinc(0)  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:7698750   PMID:7759115   PMID:10737800   PMID:10832746   PMID:11013134   PMID:12477932   PMID:12855692   PMID:15489334   PMID:16317551   PMID:16331963   PMID:16331964   PMID:16344560  
PMID:16385451   PMID:17143180   PMID:17207965   PMID:18976975   PMID:19615732   PMID:20418485   PMID:20547083   PMID:20877624   PMID:21873635   PMID:22277967   PMID:23376485   PMID:23712021  
PMID:24797263   PMID:26058080   PMID:26186194   PMID:26344197   PMID:26389662   PMID:26496610   PMID:26638075   PMID:26871637   PMID:26972000   PMID:27025967   PMID:27684187   PMID:28380382  
PMID:28514442   PMID:28561026   PMID:28700943   PMID:28712289   PMID:29540532   PMID:29568061   PMID:30619736   PMID:30730842   PMID:30833792   PMID:31056398   PMID:31091453   PMID:31536960  
PMID:31617661   PMID:32877691  


Genomics

Comparative Map Data
ACADSB
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl10123,008,979 - 123,058,311 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl10123,008,979 - 123,058,290 (+)EnsemblGRCh38hg38GRCh38
GRCh3810123,009,006 - 123,058,290 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3710124,768,429 - 124,817,806 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh3710124,768,522 - 124,817,806 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3610124,758,419 - 124,807,796 (+)NCBINCBI36hg18NCBI36
Build 3410124,758,523 - 124,807,795NCBI
Celera10118,474,901 - 118,524,347 (+)NCBI
Cytogenetic Map10q26.13NCBI
HuRef10118,386,177 - 118,435,556 (+)NCBIHuRef
CHM1_110125,050,159 - 125,099,529 (+)NCBICHM1_1
Acadsb
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397131,012,330 - 131,047,940 (+)NCBIGRCm39mm39
GRCm387131,410,601 - 131,446,211 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7131,410,601 - 131,448,944 (+)EnsemblGRCm38mm10GRCm38
MGSCv377138,554,115 - 138,589,725 (+)NCBIGRCm37mm9NCBIm37
MGSCv367131,201,849 - 131,237,354 (+)NCBImm8
Celera7131,221,745 - 131,258,475 (+)NCBICelera
Cytogenetic Map7F3NCBI
Acadsb
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21186,188,939 - 186,227,796 (+)NCBI
Rnor_6.0 Ensembl1201,981,357 - 202,021,008 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01201,981,362 - 202,022,771 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01209,013,684 - 209,048,775 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41190,987,657 - 191,026,275 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11191,165,470 - 191,176,156 (+)NCBI
Celera1183,943,792 - 183,982,502 (+)NCBICelera
Cytogenetic Map1q41NCBI
Acadsb
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554771,177,680 - 1,213,347 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554771,177,704 - 1,213,347 (+)NCBIChiLan1.0ChiLan1.0
ACADSB
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.110123,839,570 - 123,886,759 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl10123,839,570 - 123,886,759 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v010119,565,913 - 119,612,092 (+)NCBIMhudiblu_PPA_v0panPan3
ACADSB
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl2832,563,671 - 32,601,063 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.12832,563,697 - 32,604,006 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Acadsb
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_00493648611,668,099 - 11,707,946 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ACADSB
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl14132,563,309 - 132,626,841 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.114132,563,002 - 132,607,574 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.214144,149,537 - 144,190,530 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ACADSB
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.19115,684,301 - 115,725,801 (+)NCBI
ChlSab1.1 Ensembl9115,684,279 - 115,724,412 (+)Ensembl
Acadsb
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473723,949,008 - 23,999,544 (-)NCBI

Position Markers
D10S2417  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710124,817,574 - 124,817,717UniSTSGRCh37
Build 3610124,807,564 - 124,807,707RGDNCBI36
Celera10118,524,115 - 118,524,258RGD
Cytogenetic Map10q26.13UniSTS
HuRef10118,435,324 - 118,435,467UniSTS
D10S1297E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710124,814,505 - 124,814,677UniSTSGRCh37
GRCh3710124,814,505 - 124,815,724UniSTSGRCh37
Build 3610124,804,495 - 124,804,667RGDNCBI36
Celera10118,521,046 - 118,522,265UniSTS
Celera10118,521,046 - 118,521,218RGD
Cytogenetic Map10q26.13UniSTS
HuRef10118,432,255 - 118,432,427UniSTS
HuRef10118,432,255 - 118,433,474UniSTS
ACADSB_201  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710124,813,949 - 124,814,667UniSTSGRCh37
Build 3610124,803,939 - 124,804,657RGDNCBI36
Celera10118,520,490 - 118,521,208RGD
HuRef10118,431,699 - 118,432,417UniSTS
RH68878  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710124,814,252 - 124,814,405UniSTSGRCh37
Build 3610124,804,242 - 124,804,395RGDNCBI36
Celera10118,520,793 - 118,520,946RGD
Cytogenetic Map10q26.13UniSTS
HuRef10118,432,002 - 118,432,155UniSTS
GeneMap99-GB4 RH Map10538.26UniSTS
SHGC-35255  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710124,813,304 - 124,813,525UniSTSGRCh37
Build 3610124,803,294 - 124,803,515RGDNCBI36
Celera10118,519,845 - 118,520,066RGD
Cytogenetic Map10q26.13UniSTS
HuRef10118,431,054 - 118,431,275UniSTS
GeneMap99-GB4 RH Map10539.91UniSTS
Whitehead-RH Map10643.0UniSTS
NCBI RH Map101345.8UniSTS
GeneMap99-G3 RH Map106199.0UniSTS
RH44778  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710124,817,583 - 124,817,712UniSTSGRCh37
Build 3610124,807,573 - 124,807,702RGDNCBI36
Celera10118,524,124 - 118,524,253RGD
Cytogenetic Map10q26.13UniSTS
HuRef10118,435,333 - 118,435,462UniSTS
GeneMap99-GB4 RH Map10538.4UniSTS
RH70481  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710124,810,561 - 124,810,684UniSTSGRCh37
Build 3610124,800,551 - 124,800,674RGDNCBI36
Celera10118,517,104 - 118,517,227RGD
Cytogenetic Map10q26.13UniSTS
HuRef10118,428,313 - 118,428,436UniSTS
GeneMap99-GB4 RH Map10539.91UniSTS
NCBI RH Map101337.1UniSTS
SHGC-13269  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710124,817,015 - 124,817,147UniSTSGRCh37
Build 3610124,807,005 - 124,807,137RGDNCBI36
Celera10118,523,556 - 118,523,688RGD
Cytogenetic Map10q26.13UniSTS
HuRef10118,434,765 - 118,434,897UniSTS
Stanford-G3 RH Map105963.0UniSTS
NCBI RH Map101348.9UniSTS
RH44700  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710124,816,008 - 124,816,139UniSTSGRCh37
Build 3610124,805,998 - 124,806,129RGDNCBI36
Celera10118,522,549 - 118,522,680RGD
Cytogenetic Map10q26.13UniSTS
HuRef10118,433,758 - 118,433,889UniSTS
GeneMap99-GB4 RH Map10543.58UniSTS
D21S1698  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10q24UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic MapXp11.21UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map10q26.13UniSTS
WI-18655  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10q26.13UniSTS
GeneMap99-GB4 RH Map10541.46UniSTS
Whitehead-RH Map10643.1UniSTS
NCBI RH Map101346.6UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2426
Count of miRNA genes:1089
Interacting mature miRNAs:1294
Transcripts:ENST00000358776, ENST00000368869, ENST00000411816, ENST00000496730, ENST00000541070
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.


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 1939 1690 1536 561 818 442 3844 1798 2411 337 1058 1147 126 802 2543 1
Low 500 1093 190 63 927 23 513 397 1323 82 402 466 48 1 402 245 5 2
Below cutoff 208 206 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC012391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC073585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH009706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL731666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL831821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW408417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC045723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE875638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ312626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA964130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC412570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  H56072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU177879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU177880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U12778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000358776   ⟹   ENSP00000357873
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl10123,009,006 - 123,058,290 (+)Ensembl
RefSeq Acc Id: ENST00000368869   ⟹   ENSP00000357862
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl10123,008,979 - 123,054,119 (+)Ensembl
RefSeq Acc Id: ENST00000411816
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl10123,027,534 - 123,040,657 (+)Ensembl
RefSeq Acc Id: ENST00000541070
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl10123,052,761 - 123,053,878 (+)Ensembl
RefSeq Acc Id: NM_001330174   ⟹   NP_001317103
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810123,009,006 - 123,058,290 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001609   ⟹   NP_001600
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810123,009,006 - 123,058,290 (+)NCBI
GRCh3710124,768,429 - 124,817,806 (+)ENTREZGENE
GRCh3710124,768,429 - 124,817,806 (+)NCBI
Build 3610124,758,419 - 124,807,796 (+)NCBI Archive
HuRef10118,386,177 - 118,435,556 (+)ENTREZGENE
CHM1_110125,050,159 - 125,099,529 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001600   ⟸   NM_001609
- Peptide Label: isoform 1 precursor
- UniProtKB: P45954 (UniProtKB/Swiss-Prot),   A0A0S2Z3P9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001317103   ⟸   NM_001330174
- Peptide Label: isoform 2
- UniProtKB: P45954 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000357862   ⟸   ENST00000368869
RefSeq Acc Id: ENSP00000357873   ⟸   ENST00000358776
Protein Domains
Acyl-CoA_dh_1   Acyl-CoA_dh_M   Acyl-CoA_dh_N

Promoters
RGD ID:7218893
Promoter ID:EPDNEW_H15192
Type:initiation region
Name:ACADSB_1
Description:acyl-CoA dehydrogenase, short/branched chain
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810123,009,006 - 123,009,066EPDNEW
RGD ID:6787304
Promoter ID:HG_KWN:11511
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:ENST00000263447,   OTTHUMT00000050820,   OTTHUMT00000050821,   OTTHUMT00000050822,   OTTHUMT00000050823,   OTTHUMT00000050843
Position:
Human AssemblyChrPosition (strand)Source
Build 3610124,757,456 - 124,758,887 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001609.3(ACADSB):c.303+3A>G single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000009779]|not provided [RCV000522412] Chr10:123037850 [GRCh38]
Chr10:124797366 [GRCh37]
Chr10:10q26.13
pathogenic
LRG_451t1:c.303+3A>G single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000009779] Chr10:10q25-q26 pathogenic
NM_001609.3(ACADSB):c.1228G>A (p.Gly410Ser) single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000009777] Chr10:123053160 [GRCh38]
Chr10:124812676 [GRCh37]
Chr10:10q26.13
pathogenic
NM_001609.3(ACADSB):c.763C>T (p.Leu255Phe) single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000009778] Chr10:123043127 [GRCh38]
Chr10:124802643 [GRCh37]
Chr10:10q26.13
pathogenic
NM_001609.3(ACADSB):c.443C>T (p.Thr148Ile) single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000009780]|not provided [RCV000389934] Chr10:123040605 [GRCh38]
Chr10:124800121 [GRCh37]
Chr10:10q26.13
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001609.3(ACADSB):c.1159G>A (p.Glu387Lys) single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000009781]|Seizures [RCV001255064]|not provided [RCV001091421] Chr10:123053091 [GRCh38]
Chr10:124812607 [GRCh37]
Chr10:10q26.13
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 10q26.11-26.13(chr10:119273012-123117390)x3 copy number gain See cases [RCV000050701] Chr10:119273012..123117390 [GRCh38]
Chr10:121032524..124876906 [GRCh37]
Chr10:121022514..124866896 [NCBI36]
Chr10:10q26.11-26.13
pathogenic
GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3 copy number gain See cases [RCV000051218] Chr10:111313099..133620674 [GRCh38]
Chr10:113072857..135434178 [GRCh37]
Chr10:113062847..135284168 [NCBI36]
Chr10:10q25.2-26.3
pathogenic
GRCh38/hg38 10q26.12-26.3(chr10:120454430-133620674)x1 copy number loss See cases [RCV000051103] Chr10:120454430..133620674 [GRCh38]
Chr10:122213942..135434178 [GRCh37]
Chr10:122203932..135284168 [NCBI36]
Chr10:10q26.12-26.3
pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:122265252-133620674)x1 copy number loss See cases [RCV000051069] Chr10:122265252..133620674 [GRCh38]
Chr10:124024767..135434178 [GRCh37]
Chr10:124014757..135284168 [NCBI36]
Chr10:10q26.13-26.3
pathogenic
GRCh38/hg38 10q26.13-26.2(chr10:122826743-126730948)x1 copy number loss See cases [RCV000052609] Chr10:122826743..126730948 [GRCh38]
Chr10:124586259..128419517 [GRCh37]
Chr10:124576249..128409507 [NCBI36]
Chr10:10q26.13-26.2
pathogenic
GRCh38/hg38 10q26.13-26.2(chr10:122973296-128210291)x1 copy number loss See cases [RCV000052610] Chr10:122973296..128210291 [GRCh38]
Chr10:124732812..130008555 [GRCh37]
Chr10:124722802..129898545 [NCBI36]
Chr10:10q26.13-26.2
pathogenic
GRCh38/hg38 10q23.31-26.3(chr10:91048545-133620674)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|See cases [RCV000053560] Chr10:91048545..133620674 [GRCh38]
Chr10:92808302..135434178 [GRCh37]
Chr10:92798282..135284168 [NCBI36]
Chr10:10q23.31-26.3
pathogenic
GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3 copy number gain See cases [RCV000053564] Chr10:100194215..132432797 [GRCh38]
Chr10:101953972..134246301 [GRCh37]
Chr10:101943962..134096291 [NCBI36]
Chr10:10q24.31-26.3
pathogenic
GRCh38/hg38 10q25.1-26.3(chr10:106925303-133620815)x3 copy number gain See cases [RCV000053588] Chr10:106925303..133620815 [GRCh38]
Chr10:108685061..135434319 [GRCh37]
Chr10:108675051..135284309 [NCBI36]
Chr10:10q25.1-26.3
pathogenic
GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3 copy number gain See cases [RCV000053589] Chr10:117866565..133554210 [GRCh38]
Chr10:119626076..135367714 [GRCh37]
Chr10:119616066..135217704 [NCBI36]
Chr10:10q26.11-26.3
pathogenic
GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3 copy number gain See cases [RCV000133688] Chr10:108102587..133620674 [GRCh38]
Chr10:109862345..135434178 [GRCh37]
Chr10:109852335..135284168 [NCBI36]
Chr10:10q25.1-26.3
pathogenic
GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3 copy number gain See cases [RCV000137747] Chr10:100600492..133622588 [GRCh38]
Chr10:102360249..135436092 [GRCh37]
Chr10:102350239..135286082 [NCBI36]
Chr10:10q24.31-26.3
pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:122881207-133620609)x1 copy number loss See cases [RCV000138435] Chr10:122881207..133620609 [GRCh38]
Chr10:124640723..135434113 [GRCh37]
Chr10:124630713..135284103 [NCBI36]
Chr10:10q26.13-26.3
pathogenic
GRCh38/hg38 10q26.12-26.3(chr10:120970558-133622588)x1 copy number loss See cases [RCV000139344] Chr10:120970558..133622588 [GRCh38]
Chr10:122730071..135436092 [GRCh37]
Chr10:122720061..135286082 [NCBI36]
Chr10:10q26.12-26.3
pathogenic
GRCh38/hg38 10q26.13(chr10:122143176-124358013)x1 copy number loss See cases [RCV000139771] Chr10:122143176..124358013 [GRCh38]
Chr10:123902691..126046582 [GRCh37]
Chr10:123892681..126036572 [NCBI36]
Chr10:10q26.13
pathogenic
GRCh38/hg38 10q26.11-26.3(chr10:119707856-133613639)x3 copy number gain See cases [RCV000142005] Chr10:119707856..133613639 [GRCh38]
Chr10:121467368..135427143 [GRCh37]
Chr10:121457358..135277133 [NCBI36]
Chr10:10q26.11-26.3
pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:121588992-133620674)x1 copy number loss See cases [RCV000142441] Chr10:121588992..133620674 [GRCh38]
Chr10:123348506..135434178 [GRCh37]
Chr10:123338496..135284168 [NCBI36]
Chr10:10q26.13-26.3
pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:121918547-133620674)x1 copy number loss See cases [RCV000142737] Chr10:121918547..133620674 [GRCh38]
Chr10:123678062..135434178 [GRCh37]
Chr10:123668052..135284168 [NCBI36]
Chr10:10q26.13-26.3
pathogenic
NM_001609.4(ACADSB):c.303+1G>A single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000185535]|not provided [RCV000498442] Chr10:123037848 [GRCh38]
Chr10:124797364 [GRCh37]
Chr10:10q26.13
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001609.4(ACADSB):c.295C>T (p.Gln99Ter) single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001172542]|not provided [RCV000289249] Chr10:123037839 [GRCh38]
Chr10:124797355 [GRCh37]
Chr10:10q26.13
pathogenic
GRCh37/hg19 10q26.12-26.2(chr10:122239239-128203032)x1 copy number loss See cases [RCV000240153] Chr10:122239239..128203032 [GRCh37]
Chr10:10q26.12-26.2
pathogenic
GRCh37/hg19 10q26.13-26.3(chr10:123731209-135353867)x1 copy number loss See cases [RCV000203440] Chr10:123731209..135353867 [GRCh37]
Chr10:10q26.13-26.3
pathogenic|likely pathogenic
GRCh37/hg19 10q26.13(chr10:124593422-125010666)x3 copy number gain See cases [RCV000240344] Chr10:124593422..125010666 [GRCh37]
Chr10:10q26.13
uncertain significance
GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3 copy number gain See cases [RCV000240457] Chr10:103288313..135512075 [GRCh37]
Chr10:10q24.32-26.3
pathogenic
NM_001609.4(ACADSB):c.621G>A (p.Trp207Ter) single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000301658] Chr10:123041319 [GRCh38]
Chr10:124800835 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.3(ACADSB):c.*6A>G single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000345021] Chr10:123053771 [GRCh38]
Chr10:124813287 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.3(ACADSB):c.*2548G>T single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000393807] Chr10:123056313 [GRCh38]
Chr10:124815829 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.3(ACADSB):c.*206A>C single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000370353] Chr10:123053971 [GRCh38]
Chr10:124813487 [GRCh37]
Chr10:10q26.13
benign|uncertain significance
NM_001609.3(ACADSB):c.-97T>C single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000269379] Chr10:123008933 [GRCh38]
Chr10:124768449 [GRCh37]
Chr10:10q26.13
benign|uncertain significance
NM_001609.3(ACADSB):c.-107G>A single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000323223] Chr10:123008923 [GRCh38]
Chr10:124768439 [GRCh37]
Chr10:10q26.13
benign|likely benign
NM_001609.3(ACADSB):c.*1972C>A single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000323873] Chr10:123055737 [GRCh38]
Chr10:124815253 [GRCh37]
Chr10:10q26.13
benign|uncertain significance
NM_001609.3(ACADSB):c.*545G>A single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000324239] Chr10:123054310 [GRCh38]
Chr10:124813826 [GRCh37]
Chr10:10q26.13
benign
NM_001609.3(ACADSB):c.95T>A (p.Val32Asp) single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000371606] Chr10:123034408 [GRCh38]
Chr10:124793924 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.3(ACADSB):c.1271T>C (p.Ile424Thr) single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000287162] Chr10:123053737 [GRCh38]
Chr10:124813253 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.3(ACADSB):c.*1200A>T single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000325501] Chr10:123054965 [GRCh38]
Chr10:124814481 [GRCh37]
Chr10:10q26.13
benign|likely benign
NM_001609.3(ACADSB):c.*2085C>T single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000271968] Chr10:123055850 [GRCh38]
Chr10:124815366 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.3(ACADSB):c.*1445A>T single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000350144] Chr10:123055210 [GRCh38]
Chr10:124814726 [GRCh37]
Chr10:10q26.13
likely benign|uncertain significance
NM_001609.3(ACADSB):c.*3597G>A single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000375225] Chr10:123057362 [GRCh38]
Chr10:124816878 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.3(ACADSB):c.1187A>C (p.Lys396Thr) single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000375544] Chr10:123053119 [GRCh38]
Chr10:124812635 [GRCh37]
Chr10:10q26.13
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001609.3(ACADSB):c.*3130A>G single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000272469] Chr10:123056895 [GRCh38]
Chr10:124816411 [GRCh37]
Chr10:10q26.13
likely benign|uncertain significance
NM_001609.3(ACADSB):c.-89G>T single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000329073] Chr10:123008941 [GRCh38]
Chr10:124768457 [GRCh37]
Chr10:10q26.13
benign|likely benign
NM_001609.4(ACADSB):c.1228+20_1228+21del deletion Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000376861] Chr10:123053170..123053171 [GRCh38]
Chr10:124812686..124812687 [GRCh37]
Chr10:10q26.13
likely benign
NM_001609.3(ACADSB):c.795C>T (p.Phe265=) single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000273096] Chr10:123043159 [GRCh38]
Chr10:124802675 [GRCh37]
Chr10:10q26.13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001609.3(ACADSB):c.*1337A>G single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000290478] Chr10:123055102 [GRCh38]
Chr10:124814618 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.3(ACADSB):c.*2113G>A single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000329359] Chr10:123055878 [GRCh38]
Chr10:124815394 [GRCh37]
Chr10:10q26.13
benign|likely benign
NM_001609.3(ACADSB):c.-22A>G single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000330419] Chr10:123009008 [GRCh38]
Chr10:124768524 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.3(ACADSB):c.*285T>C single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000353364] Chr10:123054050 [GRCh38]
Chr10:124813566 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.3(ACADSB):c.*3907C>G single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000378910] Chr10:123057672 [GRCh38]
Chr10:124817188 [GRCh37]
Chr10:10q26.13
likely benign|uncertain significance
NM_001609.4(ACADSB):c.1128+3A>G single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000274382] Chr10:123051189 [GRCh38]
Chr10:124810705 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.3(ACADSB):c.946A>G (p.Ile316Val) single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000309700] Chr10:123047254 [GRCh38]
Chr10:124806770 [GRCh37]
Chr10:10q26.13
benign|likely benign
NM_001609.3(ACADSB):c.*30G>A single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000402217] Chr10:123053795 [GRCh38]
Chr10:124813311 [GRCh37]
Chr10:10q26.13
likely benign|uncertain significance
NM_001609.3(ACADSB):c.*262C>T single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000275814] Chr10:123054027 [GRCh38]
Chr10:124813543 [GRCh37]
Chr10:10q26.13
benign
NM_001609.3(ACADSB):c.*4135G>A single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000310382] Chr10:123057900 [GRCh38]
Chr10:124817416 [GRCh37]
Chr10:10q26.13
benign|likely benign
NM_001609.3(ACADSB):c.*3234C>G single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000311132] Chr10:123056999 [GRCh38]
Chr10:124816515 [GRCh37]
Chr10:10q26.13
benign
NM_001609.3(ACADSB):c.*109G>A single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000310915] Chr10:123053874 [GRCh38]
Chr10:124813390 [GRCh37]
Chr10:10q26.13
benign|uncertain significance
NM_001609.3(ACADSB):c.*2224A>C single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000333093] Chr10:123055989 [GRCh38]
Chr10:124815505 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.3(ACADSB):c.*3390C>A single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000333189] Chr10:123057155 [GRCh38]
Chr10:124816671 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.3(ACADSB):c.*3470T>C single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000260801] Chr10:123057235 [GRCh38]
Chr10:124816751 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.3(ACADSB):c.1128+3A>T single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000334212] Chr10:123051189 [GRCh38]
Chr10:124810705 [GRCh37]
Chr10:10q26.13
conflicting interpretations of pathogenicity|uncertain significance
NM_001609.3(ACADSB):c.-87G>T single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000383769] Chr10:123008943 [GRCh38]
Chr10:124768459 [GRCh37]
Chr10:10q26.13
benign|likely benign
NM_001609.3(ACADSB):c.*2175A>C single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000294418] Chr10:123055940 [GRCh38]
Chr10:124815456 [GRCh37]
Chr10:10q26.13
benign
NM_001609.3(ACADSB):c.42G>T (p.Leu14=) single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000294756] Chr10:123009071 [GRCh38]
Chr10:124768587 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.3(ACADSB):c.*4467A>T single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000313652] Chr10:123058232 [GRCh38]
Chr10:124817748 [GRCh37]
Chr10:10q26.13
benign
NM_001609.3(ACADSB):c.92A>G (p.His31Arg) single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000335660] Chr10:123034405 [GRCh38]
Chr10:124793921 [GRCh37]
Chr10:10q26.13
benign|likely benign
NM_001609.3(ACADSB):c.*2331C>G single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000336069] Chr10:123056096 [GRCh38]
Chr10:124815612 [GRCh37]
Chr10:10q26.13
benign
NM_001609.3(ACADSB):c.*1920G>T single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000358673] Chr10:123055685 [GRCh38]
Chr10:124815201 [GRCh37]
Chr10:10q26.13
likely benign|uncertain significance
NM_001609.3(ACADSB):c.*473G>C single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000359220] Chr10:123054238 [GRCh38]
Chr10:124813754 [GRCh37]
Chr10:10q26.13
benign|uncertain significance
NM_001609.3(ACADSB):c.*1202G>A single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000384828] Chr10:123054967 [GRCh38]
Chr10:124814483 [GRCh37]
Chr10:10q26.13
benign|uncertain significance
NM_001609.3(ACADSB):c.*78C>T single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000407496] Chr10:123053843 [GRCh38]
Chr10:124813359 [GRCh37]
Chr10:10q26.13
likely benign|uncertain significance
NM_001609.3(ACADSB):c.*2329A>G single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000279149] Chr10:123056094 [GRCh38]
Chr10:124815610 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.3(ACADSB):c.*2174A>G single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000386169] Chr10:123055939 [GRCh38]
Chr10:124815455 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.3(ACADSB):c.*2803T>C single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000361871] Chr10:123056568 [GRCh38]
Chr10:124816084 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.3(ACADSB):c.786G>A (p.Pro262=) single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000363191] Chr10:123043150 [GRCh38]
Chr10:124802666 [GRCh37]
Chr10:10q26.13
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001609.3(ACADSB):c.1156A>G (p.Ile386Val) single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000388285] Chr10:123053088 [GRCh38]
Chr10:124812604 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.3(ACADSB):c.*497C>T single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000264508] Chr10:123054262 [GRCh38]
Chr10:124813778 [GRCh37]
Chr10:10q26.13
benign|likely benign
NM_001609.3(ACADSB):c.1228+8G>C single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000281119] Chr10:123053168 [GRCh38]
Chr10:124812684 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.3(ACADSB):c.*1826C>T single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000298272] Chr10:123055591 [GRCh38]
Chr10:124815107 [GRCh37]
Chr10:10q26.13
likely benign|uncertain significance
NM_001609.3(ACADSB):c.*277A>T single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000298457] Chr10:123054042 [GRCh38]
Chr10:124813558 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.3(ACADSB):c.*2529G>A single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000339633] Chr10:123056294 [GRCh38]
Chr10:124815810 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.3(ACADSB):c.*3819A>G single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000340597] Chr10:123057584 [GRCh38]
Chr10:124817100 [GRCh37]
Chr10:10q26.13
benign
NM_001609.3(ACADSB):c.*2227A>G single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000389835] Chr10:123055992 [GRCh38]
Chr10:124815508 [GRCh37]
Chr10:10q26.13
likely benign|uncertain significance
NM_001609.3(ACADSB):c.38G>A (p.Arg13Lys) single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000389649] Chr10:123009067 [GRCh38]
Chr10:124768583 [GRCh37]
Chr10:10q26.13
benign
NM_001609.3(ACADSB):c.168A>G (p.Thr56=) single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000281775] Chr10:123034481 [GRCh38]
Chr10:124793997 [GRCh37]
Chr10:10q26.13
benign|likely benign
NM_001609.3(ACADSB):c.*358T>C single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000318215] Chr10:123054123 [GRCh38]
Chr10:124813639 [GRCh37]
Chr10:10q26.13
benign|uncertain significance
NM_001609.3(ACADSB):c.*2957T>A single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000364695] Chr10:123056722 [GRCh38]
Chr10:124816238 [GRCh37]
Chr10:10q26.13
benign|likely benign
NM_001609.3(ACADSB):c.*1868C>G single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000391155] Chr10:123055633 [GRCh38]
Chr10:124815149 [GRCh37]
Chr10:10q26.13
benign
NM_001609.3(ACADSB):c.*2490T>C single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000282249] Chr10:123056255 [GRCh38]
Chr10:124815771 [GRCh37]
Chr10:10q26.13
benign
NM_001609.3(ACADSB):c.639C>T (p.His213=) single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000342475] Chr10:123041337 [GRCh38]
Chr10:124800853 [GRCh37]
Chr10:10q26.13
benign
NM_001609.3(ACADSB):c.*3299C>G single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000367964] Chr10:123057064 [GRCh38]
Chr10:124816580 [GRCh37]
Chr10:10q26.13
benign|uncertain significance
NM_001609.3(ACADSB):c.*4426T>C single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000393082] Chr10:123058191 [GRCh38]
Chr10:124817707 [GRCh37]
Chr10:10q26.13
benign
NM_001609.3(ACADSB):c.*2922G>A single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000393800] Chr10:123056687 [GRCh38]
Chr10:124816203 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.3(ACADSB):c.681+14C>T single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000393880] Chr10:123041393 [GRCh38]
Chr10:124800909 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.3(ACADSB):c.*3619T>C single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000283073] Chr10:123057384 [GRCh38]
Chr10:124816900 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.3(ACADSB):c.*323G>A single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000263103] Chr10:123054088 [GRCh38]
Chr10:124813604 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.3(ACADSB):c.-39G>A single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000275300] Chr10:123008991 [GRCh38]
Chr10:124768507 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.3(ACADSB):c.-102dup duplication Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000264436] Chr10:123008921..123008922 [GRCh38]
Chr10:124768437..124768438 [GRCh37]
Chr10:10q26.13
likely benign
NM_001609.3(ACADSB):c.*3340G>C single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000275739] Chr10:123057105 [GRCh38]
Chr10:124816621 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.3(ACADSB):c.*1942C>T single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000266403] Chr10:123055707 [GRCh38]
Chr10:124815223 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.3(ACADSB):c.*2339G>A single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000399084] Chr10:123056104 [GRCh38]
Chr10:124815620 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.3(ACADSB):c.*3993T>A single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000399847] Chr10:123057758 [GRCh38]
Chr10:124817274 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.3(ACADSB):c.*59G>A single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000346075] Chr10:123053824 [GRCh38]
Chr10:124813340 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.3(ACADSB):c.*1508C>T single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000400992] Chr10:123055273 [GRCh38]
Chr10:124814789 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.3(ACADSB):c.1170G>T (p.Gly390=) single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000316323] Chr10:123053102 [GRCh38]
Chr10:124812618 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.3(ACADSB):c.-102G>C single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000363948] Chr10:123008928 [GRCh38]
Chr10:124768444 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.3(ACADSB):c.*2060G>A single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000364274] Chr10:123055825 [GRCh38]
Chr10:124815341 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.3(ACADSB):c.*2686G>C single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000304869] Chr10:123056451 [GRCh38]
Chr10:124815967 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.3(ACADSB):c.*3483T>G single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000318304] Chr10:123057248 [GRCh38]
Chr10:124816764 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.3(ACADSB):c.*4177G>A single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000348900] Chr10:123057942 [GRCh38]
Chr10:124817458 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.3(ACADSB):c.*1543G>T single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000294832] Chr10:123055308 [GRCh38]
Chr10:124814824 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.3(ACADSB):c.*2950A>G single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000307647] Chr10:123056715 [GRCh38]
Chr10:124816231 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.3(ACADSB):c.429C>T (p.Asn143=) single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000336689] Chr10:123040591 [GRCh38]
Chr10:124800107 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.3(ACADSB):c.*1682T>C single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000352003] Chr10:123055447 [GRCh38]
Chr10:124814963 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.3(ACADSB):c.1062T>C (p.Ala354=) single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000369016]|not provided [RCV000919678] Chr10:123051120 [GRCh38]
Chr10:124810636 [GRCh37]
Chr10:10q26.13
likely benign|uncertain significance
NM_001609.3(ACADSB):c.-123G>A single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000368269] Chr10:123008907 [GRCh38]
Chr10:124768423 [GRCh37]
Chr10:10q26.13
likely benign
NM_001609.3(ACADSB):c.682-7T>C single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000308487] Chr10:123043039 [GRCh38]
Chr10:124802555 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.3(ACADSB):c.*3918G>A single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000286832] Chr10:123057683 [GRCh38]
Chr10:124817199 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.3(ACADSB):c.*3431C>G single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000371542] Chr10:123057196 [GRCh38]
Chr10:124816712 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.3(ACADSB):c.*1754A>G single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000391212] Chr10:123055519 [GRCh38]
Chr10:124815035 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.3(ACADSB):c.*57G>A single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000309908] Chr10:123053822 [GRCh38]
Chr10:124813338 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.3(ACADSB):c.*1840T>G single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000355366] Chr10:123055605 [GRCh38]
Chr10:124815121 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.4(ACADSB):c.1228+21del deletion Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000340849] Chr10:123053170 [GRCh38]
Chr10:124812686 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.3(ACADSB):c.544G>T (p.Gly182Cys) single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000393883] Chr10:123041242 [GRCh38]
Chr10:124800758 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.3(ACADSB):c.*1195C>A single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000289238] Chr10:123054960 [GRCh38]
Chr10:124814476 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.3(ACADSB):c.*1907C>T single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000301576] Chr10:123055672 [GRCh38]
Chr10:124815188 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.3(ACADSB):c.*3941C>A single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000344107] Chr10:123057706 [GRCh38]
Chr10:124817222 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.3(ACADSB):c.*973A>G single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000378854] Chr10:123054738 [GRCh38]
Chr10:124814254 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.3(ACADSB):c.1128+2_1128+3insTA insertion Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000550239] Chr10:123051188..123051189 [GRCh38]
Chr10:124810704..124810705 [GRCh37]
Chr10:10q26.13
uncertain significance
GRCh37/hg19 10q26.12-26.3(chr10:122125760-135062972)x3 copy number gain See cases [RCV000449169] Chr10:122125760..135062972 [GRCh37]
Chr10:10q26.12-26.3
likely pathogenic
GRCh37/hg19 10q26.13-26.3(chr10:124147428-135370736)x1 copy number loss See cases [RCV000449336] Chr10:124147428..135370736 [GRCh37]
Chr10:10q26.13-26.3
pathogenic
GRCh37/hg19 10q24.32-26.3(chr10:104633712-135427143)x3 copy number gain See cases [RCV000449386] Chr10:104633712..135427143 [GRCh37]
Chr10:10q24.32-26.3
pathogenic
GRCh37/hg19 10q26.12-26.3(chr10:122343861-135427143)x1 copy number loss See cases [RCV000446095] Chr10:122343861..135427143 [GRCh37]
Chr10:10q26.12-26.3
pathogenic
GRCh37/hg19 10q24.2-26.3(chr10:100780957-135427143)x3 copy number gain See cases [RCV000446733] Chr10:100780957..135427143 [GRCh37]
Chr10:10q24.2-26.3
pathogenic
NM_001609.3(ACADSB):c.1186A>G (p.Lys396Glu) single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000558102]|not provided [RCV000421540] Chr10:123053118 [GRCh38]
Chr10:124812634 [GRCh37]
Chr10:10q26.13
uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_001609.3(ACADSB):c.1194C>G (p.Tyr398Ter) single nucleotide variant not provided [RCV000494311] Chr10:123053126 [GRCh38]
Chr10:124812642 [GRCh37]
Chr10:10q26.13
likely pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic|uncertain significance
GRCh37/hg19 10q25.1-26.3(chr10:106003533-135427143)x3 copy number gain See cases [RCV000510813] Chr10:106003533..135427143 [GRCh37]
Chr10:10q25.1-26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3 copy number gain See cases [RCV000510972] Chr10:93283493..135427143 [GRCh37]
Chr10:10q23.32-26.3
pathogenic
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss PARP Inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3
drug response
NM_001609.3(ACADSB):c.958A>T (p.Ile320Leu) single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000538467] Chr10:123047266 [GRCh38]
Chr10:124806782 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.3(ACADSB):c.42G>A (p.Leu14=) single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000644761] Chr10:123009071 [GRCh38]
Chr10:124768587 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.3(ACADSB):c.1014C>T (p.His338=) single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000644762] Chr10:123051072 [GRCh38]
Chr10:124810588 [GRCh37]
Chr10:10q26.13
benign
GRCh37/hg19 10q26.12-26.3(chr10:122509781-135427143)x1 copy number loss not provided [RCV000683287] Chr10:122509781..135427143 [GRCh37]
Chr10:10q26.12-26.3
pathogenic
GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3 copy number gain not provided [RCV000683291] Chr10:94346520..135427143 [GRCh37]
Chr10:10q23.33-26.3
pathogenic
GRCh37/hg19 10q26.12-26.3(chr10:123019239-135427143)x1 copy number loss not provided [RCV000683286] Chr10:123019239..135427143 [GRCh37]
Chr10:10q26.12-26.3
pathogenic
GRCh37/hg19 10q26.11-26.3(chr10:121269222-135427143)x3 copy number gain not provided [RCV000683288] Chr10:121269222..135427143 [GRCh37]
Chr10:10q26.11-26.3
pathogenic
GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3 copy number gain not provided [RCV000683290] Chr10:105613040..135427143 [GRCh37]
Chr10:10q24.33-26.3
pathogenic
NC_000010.11:g.(?_123034356)_(123041379_?)del deletion Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000707953] Chr10:123034356..123041379 [GRCh38]
Chr10:124793872..124800895 [GRCh37]
Chr10:10q26.13
likely pathogenic
NM_001609.3(ACADSB):c.655G>A (p.Val219Met) single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000699781] Chr10:123041353 [GRCh38]
Chr10:124800869 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.3(ACADSB):c.334G>A (p.Gly112Arg) single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000696550] Chr10:123040496 [GRCh38]
Chr10:124800012 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.3(ACADSB):c.176A>G (p.Asp59Gly) single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000692041] Chr10:123034489 [GRCh38]
Chr10:124794005 [GRCh37]
Chr10:10q26.13
uncertain significance
GRCh37/hg19 10q26.12-26.3(chr10:122443197-135477883)x1 copy number loss not provided [RCV000737305] Chr10:122443197..135477883 [GRCh37]
Chr10:10q26.12-26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_001609.4(ACADSB):c.303+5A>G single nucleotide variant not provided [RCV000994523] Chr10:123037852 [GRCh38]
Chr10:124797368 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.4(ACADSB):c.1128+21_1128+26dup duplication not provided [RCV000965156] Chr10:123051188..123051189 [GRCh38]
Chr10:124810704..124810705 [GRCh37]
Chr10:10q26.13
benign
NM_001609.4(ACADSB):c.1128+22_1128+26del deletion not provided [RCV000870893] Chr10:123051189..123051193 [GRCh38]
Chr10:124810705..124810709 [GRCh37]
Chr10:10q26.13
benign
NM_001609.4(ACADSB):c.1101G>A (p.Ala367=) single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000904888] Chr10:123051159 [GRCh38]
Chr10:124810675 [GRCh37]
Chr10:10q26.13
likely benign
NM_001609.4(ACADSB):c.1060G>A (p.Ala354Thr) single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001051355] Chr10:123051118 [GRCh38]
Chr10:124810634 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.3(ACADSB):c.1128+2_1128+4del deletion Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000779018] Chr10:123051188..123051190 [GRCh38]
Chr10:124810704..124810706 [GRCh37]
Chr10:10q26.13
uncertain significance
GRCh37/hg19 10q25.3-26.13(chr10:117024753-124942806) copy number loss Chromosome 10q26 deletion syndrome [RCV000767564] Chr10:117024753..124942806 [GRCh37]
Chr10:10q25.3-26.13
pathogenic
NM_001609.4(ACADSB):c.726G>A (p.Pro242=) single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000872874] Chr10:123043090 [GRCh38]
Chr10:124802606 [GRCh37]
Chr10:10q26.13
benign
NM_001609.4(ACADSB):c.452G>A (p.Arg151Lys) single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000871736] Chr10:123040614 [GRCh38]
Chr10:124800130 [GRCh37]
Chr10:10q26.13
likely benign
NM_001609.3(ACADSB):c.1213C>T (p.Arg405Ter) single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000779019] Chr10:123053145 [GRCh38]
Chr10:124812661 [GRCh37]
Chr10:10q26.13
uncertain significance
GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095) copy number gain not provided [RCV000767665] Chr10:110022170..135439095 [GRCh37]
Chr10:10q25.1-26.3
pathogenic
NM_001609.4(ACADSB):c.375dup (p.Glu126fs) duplication Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000816249] Chr10:123040536..123040537 [GRCh38]
Chr10:124800052..124800053 [GRCh37]
Chr10:10q26.13
pathogenic
NM_001609.3(ACADSB):c.260C>T (p.Ser87Leu) single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000805891] Chr10:123037804 [GRCh38]
Chr10:124797320 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.3(ACADSB):c.370G>C (p.Val124Leu) single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000822395] Chr10:123040532 [GRCh38]
Chr10:124800048 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.3(ACADSB):c.1165A>G (p.Met389Val) single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000822836] Chr10:123053097 [GRCh38]
Chr10:124812613 [GRCh37]
Chr10:10q26.13
pathogenic
NM_001609.3(ACADSB):c.1145C>T (p.Thr382Met) single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000817599] Chr10:123053077 [GRCh38]
Chr10:124812593 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.4(ACADSB):c.1128+20_1128+26dup duplication Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000988457] Chr10:123051188..123051189 [GRCh38]
Chr10:124810704..124810705 [GRCh37]
Chr10:10q26.13
likely benign
NM_001609.3(ACADSB):c.67T>G (p.Leu23Val) single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000810106] Chr10:123034380 [GRCh38]
Chr10:124793896 [GRCh37]
Chr10:10q26.13
uncertain significance
GRCh37/hg19 10q25.2-26.3(chr10:114544537-135427143)x3 copy number gain not provided [RCV000847820] Chr10:114544537..135427143 [GRCh37]
Chr10:10q25.2-26.3
pathogenic
NM_001609.4(ACADSB):c.1228+2T>C single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001095659] Chr10:123053162 [GRCh38]
Chr10:124812678 [GRCh37]
Chr10:10q26.13
likely pathogenic
NM_001609.3(ACADSB):c.1168G>A (p.Gly390Arg) single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000816689] Chr10:123053100 [GRCh38]
Chr10:124812616 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.3(ACADSB):c.1154G>A (p.Cys385Tyr) single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV000795375] Chr10:123053086 [GRCh38]
Chr10:124812602 [GRCh37]
Chr10:10q26.13
uncertain significance
GRCh37/hg19 10q26.11-26.3(chr10:119996339-135427143)x3 copy number gain not provided [RCV001006356] Chr10:119996339..135427143 [GRCh37]
Chr10:10q26.11-26.3
pathogenic
NM_001609.4(ACADSB):c.1219G>A (p.Ala407Thr) single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001104850] Chr10:123053151 [GRCh38]
Chr10:124812667 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.4(ACADSB):c.*2224A>G single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001105056] Chr10:123055989 [GRCh38]
Chr10:124815505 [GRCh37]
Chr10:10q26.13
likely benign
NM_001609.4(ACADSB):c.*263G>A single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001108232] Chr10:123054028 [GRCh38]
Chr10:124813544 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.4(ACADSB):c.*3332A>T single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001108421] Chr10:123057097 [GRCh38]
Chr10:124816613 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.4(ACADSB):c.1229-15T>G single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001106011] Chr10:123053680 [GRCh38]
Chr10:124813196 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.4(ACADSB):c.45A>C (p.Leu15=) single nucleotide variant not provided [RCV000980035] Chr10:123034358 [GRCh38]
Chr10:124793874 [GRCh37]
Chr10:10q26.13
benign
NM_001609.4(ACADSB):c.1128+24_1128+25insGAAAAAAAAAAAAAAAAAAAAAAA insertion not provided [RCV000887968] Chr10:123051188..123051189 [GRCh38]
Chr10:124810704..124810705 [GRCh37]
Chr10:10q26.13
benign
NM_001609.4(ACADSB):c.960A>T (p.Ile320=) single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001102936]|not provided [RCV000885494] Chr10:123047268 [GRCh38]
Chr10:124806784 [GRCh37]
Chr10:10q26.13
likely benign|uncertain significance
NM_001609.4(ACADSB):c.*1552A>G single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001106111] Chr10:123055317 [GRCh38]
Chr10:124814833 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.4(ACADSB):c.675T>C (p.Pro225=) single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001108151] Chr10:123041373 [GRCh38]
Chr10:124800889 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.4(ACADSB):c.*133C>G single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001108230] Chr10:123053898 [GRCh38]
Chr10:124813414 [GRCh37]
Chr10:10q26.13
benign
NM_001609.4(ACADSB):c.653dup (p.Val219fs) duplication Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001065913] Chr10:123041350..123041351 [GRCh38]
Chr10:124800866..124800867 [GRCh37]
Chr10:10q26.13
pathogenic
NM_001609.4(ACADSB):c.*3911A>G single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001105155] Chr10:123057676 [GRCh38]
Chr10:124817192 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.4(ACADSB):c.154G>A (p.Ala52Thr) single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001217992] Chr10:123034467 [GRCh38]
Chr10:124793983 [GRCh37]
Chr10:10q26.13
uncertain significance
NC_000010.11:g.123009002G>T single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001104770] Chr10:123009002 [GRCh38]
Chr10:124768518 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.4(ACADSB):c.*1865C>T single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001108327] Chr10:123055630 [GRCh38]
Chr10:124815146 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.4(ACADSB):c.*3178A>C single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001108419] Chr10:123056943 [GRCh38]
Chr10:124816459 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.4(ACADSB):c.1151A>T (p.Lys384Ile) single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001104848] Chr10:123053083 [GRCh38]
Chr10:124812599 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.4(ACADSB):c.*84G>A single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001106012] Chr10:123053849 [GRCh38]
Chr10:124813365 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.4(ACADSB):c.*2581A>C single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001106200] Chr10:123056346 [GRCh38]
Chr10:124815862 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.4(ACADSB):c.*2670C>T single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001106201] Chr10:123056435 [GRCh38]
Chr10:124815951 [GRCh37]
Chr10:10q26.13
benign
NM_001609.4(ACADSB):c.*2086G>A single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001103145] Chr10:123055851 [GRCh38]
Chr10:124815367 [GRCh37]
Chr10:10q26.13
likely benign
NM_001609.4(ACADSB):c.*3517A>G single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001103240] Chr10:123057282 [GRCh38]
Chr10:124816798 [GRCh37]
Chr10:10q26.13
likely benign
NM_001609.4(ACADSB):c.496C>G (p.Leu166Val) single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001108149] Chr10:123040658 [GRCh38]
Chr10:124800174 [GRCh37]
Chr10:10q26.13
uncertain significance
ACADSB, IVS3DS, A-G, +1 single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001172543] Chr10:10q26.13 pathogenic
NM_001609.4(ACADSB):c.219G>A (p.Gln73=) single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001105902] Chr10:123037763 [GRCh38]
Chr10:124797279 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.4(ACADSB):c.*1981G>A single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001103144] Chr10:123055746 [GRCh38]
Chr10:124815262 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.4(ACADSB):c.*3736G>T single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001103241] Chr10:123057501 [GRCh38]
Chr10:124817017 [GRCh37]
Chr10:10q26.13
benign
NM_001609.4(ACADSB):c.1232C>T (p.Thr411Met) single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001054860] Chr10:123053698 [GRCh38]
Chr10:124813214 [GRCh37]
Chr10:10q26.13
uncertain significance
NC_000010.11:g.123008921A>T single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001104769] Chr10:123008921 [GRCh38]
Chr10:124768437 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.4(ACADSB):c.*972A>G single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001104955] Chr10:123054737 [GRCh38]
Chr10:124814253 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.4(ACADSB):c.-19G>C single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001105901] Chr10:123009011 [GRCh38]
Chr10:124768527 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.4(ACADSB):c.*1827G>A single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001106112] Chr10:123055592 [GRCh38]
Chr10:124815108 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.4(ACADSB):c.*4324G>T single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001106283] Chr10:123058089 [GRCh38]
Chr10:124817605 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.4(ACADSB):c.512T>G (p.Val171Gly) single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001108150] Chr10:123041210 [GRCh38]
Chr10:124800726 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.4(ACADSB):c.*195G>A single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001108231] Chr10:123053960 [GRCh38]
Chr10:124813476 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.4(ACADSB):c.*3321C>T single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001108420] Chr10:123057086 [GRCh38]
Chr10:124816602 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.4(ACADSB):c.*498G>A single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001103042] Chr10:123054263 [GRCh38]
Chr10:124813779 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.4(ACADSB):c.*808G>A single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001103043] Chr10:123054573 [GRCh38]
Chr10:124814089 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.4(ACADSB):c.*808G>C single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001103044] Chr10:123054573 [GRCh38]
Chr10:124814089 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.4(ACADSB):c.*3409A>T single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001103239] Chr10:123057174 [GRCh38]
Chr10:124816690 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.4(ACADSB):c.1102T>C (p.Ser368Pro) single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001063034] Chr10:123051160 [GRCh38]
Chr10:124810676 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.4(ACADSB):c.1184C>T (p.Thr395Ile) single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001104849] Chr10:123053116 [GRCh38]
Chr10:124812632 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.4(ACADSB):c.*1326A>G single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001104956] Chr10:123055091 [GRCh38]
Chr10:124814607 [GRCh37]
Chr10:10q26.13
likely benign
NM_001609.4(ACADSB):c.*1380G>A single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001104957] Chr10:123055145 [GRCh38]
Chr10:124814661 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.4(ACADSB):c.1219G>T (p.Ala407Ser) single nucleotide variant Microcephaly [RCV001252748] Chr10:123053151 [GRCh38]
Chr10:124812667 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001609.4(ACADSB):c.682-349C>A single nucleotide variant Seizures [RCV001255065] Chr10:123042697 [GRCh38]
Chr10:124802213 [GRCh37]
Chr10:10q26.13
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:91 AgrOrtholog
COSMIC ACADSB COSMIC
Ensembl Genes ENSG00000196177 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000357862 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000357873 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000358776 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000368869 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.540.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000196177 GTEx
HGNC ID HGNC:91 ENTREZGENE
Human Proteome Map ACADSB 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:36 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 36 ENTREZGENE
OMIM 600301 OMIM
  610006 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 PA24427 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 A0A0S2Z374_HUMAN UniProtKB/TrEMBL
  A0A0S2Z3P9 ENTREZGENE, UniProtKB/TrEMBL
  ACDSB_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B4DQ51 UniProtKB/Swiss-Prot
  Q5SQN6 UniProtKB/Swiss-Prot
  Q96CX7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-10-04 ACADSB  acyl-CoA dehydrogenase short/branched chain    acyl-CoA dehydrogenase, short/branched chain  Symbol and/or name change 5135510 APPROVED
2011-08-17 ACADSB  acyl-CoA dehydrogenase, short/branched chain  ACADSB  acyl-CoA dehydrogenase, short/branched chain  Symbol and/or name change 5135510 APPROVED
2011-07-27 ACADSB  acyl-CoA dehydrogenase, short/branched chain  ACADSB  acyl-Coenzyme A dehydrogenase, short/branched chain  Symbol and/or name change 5135510 APPROVED