ACADS (acyl-CoA dehydrogenase short chain)

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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 Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38.p13 Ensembl	12	120,725,774 - 120,740,008 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	12	120,725,826 - 120,740,008 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	12	121,163,629 - 121,177,811 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
GRCh37	12	121,163,544 - 121,177,811 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	12	119,648,050 - 119,662,193 (+)	NCBI	NCBI36		hg18	NCBI36
Build 34	12	119,626,385 - 119,640,530	NCBI
Celera	12	120,797,834 - 120,812,046 (+)	NCBI
Cytogenetic Map	12	q24.31	NCBI
HuRef	12	118,172,924 - 118,187,098 (+)	NCBI		HuRef
CHM1_1	12	121,132,316 - 121,146,588 (+)	NCBI		CHM1_1

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

congestive heart failure (EXP)

short chain acyl-CoA dehydrogenase deficiency (IAGP)

type 2 diabetes mellitus (IAGP)

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

butyrate catabolic process (IBA,ISO)

fatty acid beta-oxidation (IC,TAS)

fatty acid beta-oxidation using acyl-CoA dehydrogenase (IDA,ISO)

response to glucocorticoid (ISO)

response to starvation (ISO)

Cellular Component

centrosome (IDA)

mitochondrial matrix (ISO,ISS,TAS)

mitochondrial membrane (ISO)

mitochondrion (IDA,ISO)

nucleoplasm (IDA)

nucleus (HDA)

Molecular Function

acyl-CoA dehydrogenase activity (IDA,IEA,IMP,ISO,ISS)

butyryl-CoA dehydrogenase activity (IBA,ISO,ISS)

fatty-acyl-CoA binding (ISO)

flavin adenine dinucleotide binding (IEA,ISO)

identical protein binding (ISO)

Molecular Pathway Annotations Click to see Annotation Detail View

3-hydroxy-3-methylglutaryl-CoA lyase deficiency pathway (EXP)

3-hydroxyacyl-CoA dehydrogenase deficiency pathway (EXP)

3-hydroxyisobutyric aciduria pathway (EXP)

3-methylcrotonyl CoA carboxylase 1 deficiency pathway (EXP)

3-methylglutaconic aciduria type 1 pathway (EXP)

3-methylglutaconic aciduria type 3 pathway (EXP)

butanoate metabolic pathway (EXP,IEA)

carnitine palmitoyltransferase I deficiency pathway (EXP)

ethylmalonic encephalopathy pathway (EXP)

fatty acid beta degradation pathway (EXP,ISO,TAS)

fatty acid metabolic pathway (EXP)

glutaric aciduria type I pathway (EXP)

isobutyryl-CoA dehydrogenase deficiency pathway (EXP)

isovaleric acidemia pathway (EXP)

maple syrup urine disease pathway (EXP)

medium chain acyl-CoA dehydrogenase deficiency pathway (EXP)

methylmalonate semialdehyde dehydrogenase deficiency pathway (EXP)

methylmalonic acidemia pathway (EXP)

propionic acidemia pathway (EXP)

short-chain acyl-CoA dehydrogenase deficiency pathway (EXP)

trifunctional protein deficiency pathway (EXP)

valine, leucine and isoleucine degradation pathway (EXP,IEA)

very long-chain acyl-CoA dehydrogenase deficiency pathway (EXP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal facial shape (IAGP)

Abnormality of the cerebral white matter (IAGP)

Autosomal recessive inheritance (IAGP)

Behavioral abnormality (IAGP)

Cardiomyopathy (IAGP)

Delayed speech and language development (IAGP)

Dystonia (IAGP)

Elevated circulating acylcarnitine concentration (IAGP)

Episodic metabolic acidosis (IAGP)

Ethylmalonic aciduria (IAGP)

Facial palsy (IAGP)

Failure to thrive (IAGP)

Feeding difficulties (IAGP)

Feeding difficulties in infancy (IAGP)

Flexion contracture (IAGP)

Generalized hypotonia (IAGP)

Global developmental delay (IAGP)

Hepatic steatosis (IAGP)

Hypertonia (IAGP)

Hypoglycemic encephalopathy (IAGP)

Hypotonia (IAGP)

Increased level of methylsuccinic acid in urine (IAGP)

Infantile muscular hypotonia (IAGP)

Intrauterine growth retardation (IAGP)

Ketotic hypoglycemia (IAGP)

Lethargy (IAGP)

Metabolic acidosis (IAGP)

Microcephaly (IAGP)

Myopathy (IAGP)

Neonatal onset (IAGP)

Optic atrophy (IAGP)

Progressive external ophthalmoplegia (IAGP)

Psychosis (IAGP)

Respiratory distress (IAGP)

Scoliosis (IAGP)

Seizure (IAGP)

References

References - curated


1.	Coulson A Vet Rec 1978 Oct 14;103(16):359.
2.	Dabrowski Z, etal., Pol Tyg Lek 1978 Jul 10;33(28):1093-5.
3.	Ghisla S and Thorpe C, Eur J Biochem. 2004 Feb;271(3):494-508.
4.	GOA_HUMAN data from the GO Consortium
5.	Ikeda Y, etal., J Biol Chem. 1985 Jan 25;260(2):1311-25.
6.	KEGG
7.	OMIM Disease Annotation Pipeline
8.	Pipeline to import KEGG annotations from KEGG into RGD
9.	Pipeline to import SMPDB annotations from SMPDB into RGD
10.	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
11.	RGD automated import pipeline for gene-chemical interactions
12.	RGD automated import pipeline for human HPO-to-gene-to-disease annotations

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 Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38.p13 Ensembl	12	120,725,774 - 120,740,008 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	12	120,725,826 - 120,740,008 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	12	121,163,629 - 121,177,811 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
GRCh37	12	121,163,544 - 121,177,811 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	12	119,648,050 - 119,662,193 (+)	NCBI	NCBI36		hg18	NCBI36
Build 34	12	119,626,385 - 119,640,530	NCBI
Celera	12	120,797,834 - 120,812,046 (+)	NCBI
Cytogenetic Map	12	q24.31	NCBI
HuRef	12	118,172,924 - 118,187,098 (+)	NCBI		HuRef
CHM1_1	12	121,132,316 - 121,146,588 (+)	NCBI		CHM1_1

Acads
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	5	115,248,358 - 115,257,405 (-)	NCBI	GRCm39		mm39
GRCm38	5	115,110,299 - 115,119,346 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	5	115,110,299 - 115,119,346 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	5	115,560,308 - 115,569,322 (-)	NCBI	GRCm37		mm9	NCBIm37
MGSCv36	5	115,371,298 - 115,380,312 (-)	NCBI			mm8
Celera	5	112,206,409 - 112,215,487 (-)	NCBI		Celera
Cytogenetic Map	5	F	NCBI
cM Map	5	55.99	NCBI

Acads
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mRatBN7.2	12	41,493,650 - 41,502,897 (+)	NCBI
Rnor_6.0 Ensembl	12	47,254,484 - 47,263,747 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_6.0	12	47,254,503 - 47,263,747 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_5.0	12	49,049,549 - 49,059,164 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	12	42,765,284 - 42,774,528 (+)	NCBI	RGSC3.4		rn4	RGSC3.4
RGSC_v3.1	12	42,628,671 - 42,637,916 (+)	NCBI
Celera	12	43,112,383 - 43,121,613 (+)	NCBI		Celera
Cytogenetic Map	12	q16	NCBI

Acads
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955455	10,928,560 - 10,942,926 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955455	10,928,560 - 10,942,748 (-)	NCBI	ChiLan1.0	ChiLan1.0

ACADS
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
PanPan1.1	12	121,682,113 - 121,696,376 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	12	121,682,113 - 121,696,376 (+)	Ensembl	panpan1.1		panPan2
Mhudiblu_PPA_v0	12	118,309,303 - 118,323,489 (+)	NCBI	Mhudiblu_PPA_v0		panPan3

ACADS
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1 Ensembl	26	16,572,947 - 16,584,194 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
CanFam3.1	26	16,572,936 - 16,584,760 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1

Acads
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
SpeTri2.0	NW_004936668	257,214 - 272,089 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

ACADS
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	14	40,624,213 - 40,659,928 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	14	40,642,810 - 40,656,922 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	14	43,110,578 - 43,124,662 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3
Pig Cytomap	14	q16.2-q23.2	NCBI

ACADS
(Chlorocebus sabaeus - African green monkey)

Vervet Assembly	Chr	Position (strand)	Source	Genome Browsers
Vervet Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	11	116,083,156 - 116,096,554 (+)	NCBI
ChlSab1.1 Ensembl	11	116,083,276 - 116,096,607 (+)	Ensembl

Acads
(Heterocephalus glaber - naked mole-rat)

Molerat Assembly	Chr	Position (strand)	Source	Genome Browsers
Molerat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla 1.0	NW_004624747	12,954,635 - 12,966,320 (-)	NCBI

Position Markers

RH75794

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	121,177,644 - 121,177,789	UniSTS	GRCh37
Build 36	12	119,662,027 - 119,662,172	RGD	NCBI36
Celera	12	120,811,879 - 120,812,024	RGD
Cytogenetic Map	12	q24.31	UniSTS
HuRef	12	118,186,931 - 118,187,076	UniSTS

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

Low

477

587

145

937

106

Below cutoff

View RNA-SEQ Expression Data

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 Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	12	120,725,826 - 120,740,008 (+)	Ensembl

RefSeq Acc Id:

ENST00000411593 ⟹ ENSP00000401045

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	12	120,725,861 - 120,739,594 (+)	Ensembl

RefSeq Acc Id:

ENST00000539690

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	12	120,725,774 - 120,737,805 (+)	Ensembl

RefSeq Acc Id:

NM_000017 ⟹ NP_000008

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	120,725,826 - 120,740,008 (+)	NCBI
GRCh37	12	121,163,544 - 121,177,811 (+)	NCBI
Build 36	12	119,648,050 - 119,662,193 (+)	NCBI Archive
HuRef	12	118,172,924 - 118,187,098 (+)	ENTREZGENE
CHM1_1	12	121,132,316 - 121,146,588 (+)	NCBI

Sequence:

show sequence

AGGCCCCGCCCCCTGGCCGCGAGCGCACCTCGGCCCCGCTCCCGAGGCCCTACGGGCGTGGCCT
CTGTCCCGGGTCCCGCCCCCCAGCACTCCGGAACAGCGCGCTCGCAGCGGGAGGTCGCGAAGCC
TGGGACTGTGTCTGTCGCCCATGGCCGCCGCGCTGCTCGCCCGGGCCTCGGGCCCTGCCCGCAG
AGCTCTCTGTCCTAGGGCCTGGCGGCAGTTACACACCATCTACCAGTCTGTGGAACTGCCCGAG
ACACACCAGATGTTGCTCCAGACATGCCGGGACTTTGCCGAGAAGGAGTTGTTTCCCATTGCAG
CCCAGGTGGATAAGGAACATCTCTTCCCAGCGGCTCAGGTGAAGAAGATGGGCGGGCTTGGGCT
TCTGGCCATGGACGTGCCCGAGGAGCTTGGCGGTGCTGGCCTCGATTACCTGGCCTACGCCATC
GCCATGGAGGAGATCAGCCGTGGCTGCGCCTCCACCGGAGTCATCATGAGTGTCAACAACTCTC
TCTACCTGGGGCCCATCTTGAAGTTTGGCTCCAAGGAGCAGAAGCAGGCGTGGGTCACGCCTTT
CACCAGTGGTGACAAAATTGGCTGCTTTGCCCTCAGCGAACCAGGGAACGGCAGTGATGCAGGA
GCTGCGTCCACCACCGCCCGGGCCGAGGGCGACTCATGGGTTCTGAATGGAACCAAAGCCTGGA
TCACCAATGCCTGGGAGGCTTCGGCTGCCGTGGTCTTTGCCAGCACGGACAGAGCCCTGCAAAA
CAAGGGCATCAGTGCCTTCCTGGTCCCCATGCCAACGCCTGGGCTCACGTTGGGGAAGAAAGAA
GACAAGCTGGGCATCCGGGGCTCATCCACGGCCAACCTCATCTTTGAGGACTGTCGCATCCCCA
AGGACAGCATCCTGGGGGAGCCAGGGATGGGCTTCAAGATAGCCATGCAAACCCTGGACATGGG
CCGCATCGGCATCGCCTCCCAGGCCCTGGGCATTGCCCAGACCGCCCTCGATTGTGCTGTGAAC
TACGCTGAGAATCGCATGGCCTTCGGGGCGCCCCTCACCAAGCTCCAGGTCATCCAGTTCAAGT
TGGCAGACATGGCCCTGGCCCTGGAGAGTGCCCGGCTGCTGACCTGGCGCGCTGCCATGCTGAA
GGATAACAAGAAGCCTTTCATCAAGGAGGCAGCCATGGCCAAGCTGGCCGCCTCGGAGGCCGCG
ACCGCCATCAGCCACCAGGCCATCCAGATCCTGGGCGGCATGGGCTACGTGACAGAGATGCCGG
CAGAGCGGCACTACCGCGACGCCCGCATCACTGAGATCTACGAGGGCACCAGCGAAATCCAGCG
GCTGGTGATCGCCGGGCATCTGCTCAGGAGCTACCGGAGCTGAGCCCGCGGCGGACTGCCCCAG
GACTGCGGGAAGGCGCGGGAGCCAGGGGCCTCCACCCCAACCCCGGCTCAGAGACTGGGCGGCC
CGGCGGGGGCTCCCTGGGGACCCCAGATGGGCTCAGTGCTGCCACCCAGATCAGATCACATGGG
AATGAGGCCCTCCGACCATTGGCAGCTCCGCCTCTGGGCCTTTCCGCCTCCTCACCACTGTGCC
TCAAGTTCCTCATCTAAGTGGCCCTGGCCTCCTGGGGGCGGGGTTGTGGGGGGGCTGAGCGACA
CTCAGGGACACCTCAGTTGTCCTCCCGCGGGCCCTGGTGCCCTGGCATGAAGGCCCAGTGCGAC
AGGCCCTTGGTGGGGTCTGTCTTTTCCTTGAGGTCAGAGGTCAGGAGCAGGGCTGGGGTCAGGA
TGACGAGGCCTGGGGTCCTGGTGTTGGGCAGGTGGTGGGGCTGGGCCATGGAGCTGGCCCAGAG
GCCCCTCAGCCCTTTGTAAAGTCTGATGAAGGCAGGGGTGGTGATTCATGCTGTGTGACTGACT
GTGGGTAATAAACACACCTGTCCCCCAAAAAAAAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

NM_001302554 ⟹ NP_001289483

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	120,725,826 - 120,740,008 (+)	NCBI
CHM1_1	12	121,132,316 - 121,146,588 (+)	NCBI

Sequence:

show sequence

AGGCCCCGCCCCCTGGCCGCGAGCGCACCTCGGCCCCGCTCCCGAGGCCCTACGGGCGTGGCCT
CTGTCCCGGGTCCCGCCCCCCAGCACTCCGGAACAGCGCGCTCGCAGCGGGAGGTCGCGAAGCC
TGGGACTGTGTCTGTCGCCCATGGCCGCCGCGCTGCTCGCCCGGGCCTCGGGCCCTGCCCGCAG
AGCTCTCTGTCCTAGGGCCTGGCGGCAGTTACACACCATCTACCAGTCTGTGGAACTGCCCGAG
ACACACCAGATGTTGCTCCAGACATGCCGGGACTTTGCCGAGAAGGAGTTGTTTCCCATTGCAG
CCCAGGTGGATAAGGAACATCTCTTCCCAGCGGCTCAGGTGAAGAAGATGGGCGGGCTTGGGCT
TCTGGCCATGGACGTGCCCGAGGAGCTTGGCGGTGCTGGCCTCGATTACCTGGCCTACGCCATC
GCCATGGAGGAGATCAGCCGTGGCTGCGCCTCCACCGGAGTCATCATGAGTGTCAACAACTCTC
TCTACCTGGGGCCCATCTTGAAGTTTGGCTCCAAGGAGCAGAAGCAGGCGTGGGTCACGCCTTT
CACCAGTGGTGACAAAATTGGCTGCTTTGCCCTCAGCGAACCAGGGCCTTCTCTCCTTGGCCCG
ACTGGACCTATTTTTGCTCTGGGGCAAGTGGGCTGTCCCTGTCCCTCCTCAGCTGCCACTGAAG
CCTGCACCTTCCCCAGAAGCCGGCAGAGGGTGTCAAGGCCTGAGCTTCTGAGGGAGGGCATCAG
TGCCTTCCTGGTCCCCATGCCAACGCCTGGGCTCACGTTGGGGAAGAAAGAAGACAAGCTGGGC
ATCCGGGGCTCATCCACGGCCAACCTCATCTTTGAGGACTGTCGCATCCCCAAGGACAGCATCC
TGGGGGAGCCAGGGATGGGCTTCAAGATAGCCATGCAAACCCTGGACATGGGCCGCATCGGCAT
CGCCTCCCAGGCCCTGGGCATTGCCCAGACCGCCCTCGATTGTGCTGTGAACTACGCTGAGAAT
CGCATGGCCTTCGGGGCGCCCCTCACCAAGCTCCAGGTCATCCAGTTCAAGTTGGCAGACATGG
CCCTGGCCCTGGAGAGTGCCCGGCTGCTGACCTGGCGCGCTGCCATGCTGAAGGATAACAAGAA
GCCTTTCATCAAGGAGGCAGCCATGGCCAAGCTGGCCGCCTCGGAGGCCGCGACCGCCATCAGC
CACCAGGCCATCCAGATCCTGGGCGGCATGGGCTACGTGACAGAGATGCCGGCAGAGCGGCACT
ACCGCGACGCCCGCATCACTGAGATCTACGAGGGCACCAGCGAAATCCAGCGGCTGGTGATCGC
CGGGCATCTGCTCAGGAGCTACCGGAGCTGAGCCCGCGGCGGACTGCCCCAGGACTGCGGGAAG
GCGCGGGAGCCAGGGGCCTCCACCCCAACCCCGGCTCAGAGACTGGGCGGCCCGGCGGGGGCTC
CCTGGGGACCCCAGATGGGCTCAGTGCTGCCACCCAGATCAGATCACATGGGAATGAGGCCCTC
CGACCATTGGCAGCTCCGCCTCTGGGCCTTTCCGCCTCCTCACCACTGTGCCTCAAGTTCCTCA
TCTAAGTGGCCCTGGCCTCCTGGGGGCGGGGTTGTGGGGGGGCTGAGCGACACTCAGGGACACC
TCAGTTGTCCTCCCGCGGGCCCTGGTGCCCTGGCATGAAGGCCCAGTGCGACAGGCCCTTGGTG
GGGTCTGTCTTTTCCTTGAGGTCAGAGGTCAGGAGCAGGGCTGGGGTCAGGATGACGAGGCCTG
GGGTCCTGGTGTTGGGCAGGTGGTGGGGCTGGGCCATGGAGCTGGCCCAGAGGCCCCTCAGCCC
TTTGTAAAGTCTGATGAAGGCAGGGGTGGTGATTCATGCTGTGTGACTGACTGTGGGTAATAAA
CACACCTGTCCCCCAAAAAAAAAAAAAAAAAA

hide 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:	show sequence MAAALLARASGPARRALCPRAWRQLHTIYQSVELPETHQMLLQTCRDFAEKELFPIAAQVDKEH LFPAAQVKKMGGLGLLAMDVPEELGGAGLDYLAYAIAMEEISRGCASTGVIMSVNNSLYLGPIL KFGSKEQKQAWVTPFTSGDKIGCFALSEPGNGSDAGAASTTARAEGDSWVLNGTKAWITNAWEA SAAVVFASTDRALQNKGISAFLVPMPTPGLTLGKKEDKLGIRGSSTANLIFEDCRIPKDSILGE PGMGFKIAMQTLDMGRIGIASQALGIAQTALDCAVNYAENRMAFGAPLTKLQVIQFKLADMALA LESARLLTWRAAMLKDNKKPFIKEAAMAKLAASEAATAISHQAIQILGGMGYVTEMPAERHYRD ARITEIYEGTSEIQRLVIAGHLLRSYRS hide 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:	show sequence MAAALLARASGPARRALCPRAWRQLHTIYQSVELPETHQMLLQTCRDFAEKELFPIAAQVDKEH LFPAAQVKKMGGLGLLAMDVPEELGGAGLDYLAYAIAMEEISRGCASTGVIMSVNNSLYLGPIL KFGSKEQKQAWVTPFTSGDKIGCFALSEPGPSLLGPTGPIFALGQVGCPCPSSAATEACTFPRS RQRVSRPELLREGISAFLVPMPTPGLTLGKKEDKLGIRGSSTANLIFEDCRIPKDSILGEPGMG FKIAMQTLDMGRIGIASQALGIAQTALDCAVNYAENRMAFGAPLTKLQVIQFKLADMALALESA RLLTWRAAMLKDNKKPFIKEAAMAKLAASEAATAISHQAIQILGGMGYVTEMPAERHYRDARIT EIYEGTSEIQRLVIAGHLLRSYRS hide 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 Assembly	Chr	Position (strand)	Source
Build 36	12	119,647,796 - 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 Assembly	Chr	Position (strand)	Source
Build 36	12	119,648,326 - 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 Assembly	Chr	Position (strand)	Source
GRCh38	12	120,725,826 - 120,725,886	EPDNEW

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

External Database Links

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

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

RGD Manual Annotations

Imported Annotations - SMPDB

Imported Annotations - KEGG (archival)