ACAT1 (acetyl-CoA acetyltransferase 1) - Rat Genome Database

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Gene: ACAT1 (acetyl-CoA acetyltransferase 1) Homo sapiens
Analyze
Symbol: ACAT1
Name: acetyl-CoA acetyltransferase 1
RGD ID: 737017
HGNC Page HGNC:93
Description: Enables acetyl-CoA C-acetyltransferase activity; cholesterol O-acyltransferase activity; and potassium ion binding activity. Involved in isoleucine catabolic process; ketone body catabolic process; and purine nucleoside bisphosphate metabolic process. Located in mitochondrion. Is active in endoplasmic reticulum. Implicated in beta-ketothiolase deficiency and carbohydrate metabolic disorder. Biomarker of arteriosclerosis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ACAT; acetoacetyl Coenzyme A thiolase; acetoacetyl-CoA thiolase; acetyl-CoA acetyltransferase, mitochondrial; acetyl-Coenzyme A acetyltransferase 1; MAT; mitochondrial acetoacetyl-CoA thiolase; T2; testicular tissue protein Li 198; THIL
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
NCBI Annotation Information: Note: ACAT1 (Gene ID: 38) and SOAT1 (Gene ID: 6646) share the ACAT1 symbol/alias in common. ACAT1 is a widely used alternative name for sterol O-acyltransferase 1 (SOAT1), which can be confused with the official symbol for ACAT1 (acetyl-CoA acetyltransferase 1, GeneID 38). [01 Jun 2018]
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811108,116,705 - 108,147,603 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11108,116,695 - 108,147,603 (+)EnsemblGRCh38hg38GRCh38
GRCh3711107,987,432 - 108,018,330 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611107,497,468 - 107,523,485 (+)NCBINCBI36Build 36hg18NCBI36
Build 3411107,497,467 - 107,523,485NCBI
Celera11105,147,145 - 105,173,805 (+)NCBICelera
Cytogenetic Map11q22.3NCBI
HuRef11103,917,783 - 103,944,520 (+)NCBIHuRef
CHM1_111107,875,420 - 107,902,046 (+)NCBICHM1_1
T2T-CHM13v2.011108,124,245 - 108,155,151 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(R,R,R)-alpha-tocopherol  (ISO)
1,1-dichloroethene  (ISO)
1,2,4-trimethylbenzene  (ISO)
1,2-dimethylhydrazine  (ISO)
1,3-dinitrobenzene  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (ISO)
2,2,2-tetramine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,6-dinitrotoluene  (ISO)
2-methoxyethanol  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP)
6-(4-chlorophenyl)imidazo[2,1-b][1,3]thiazole-5-carbaldehyde O-(3,4-dichlorobenzyl)oxime  (EXP)
7-ketocholesterol  (EXP)
7H-xanthine  (ISO)
9H-xanthine  (ISO)
acetamide  (ISO)
acrylamide  (ISO)
aflatoxin B1  (ISO)
amiodarone  (ISO)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
bexarotene  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP)
cadmium dichloride  (EXP,ISO)
carbon nanotube  (ISO)
chenodeoxycholic acid  (EXP)
cisplatin  (EXP,ISO)
clofibrate  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
crocidolite asbestos  (EXP)
cyclosporin A  (EXP,ISO)
cyproconazole  (ISO)
DDT  (ISO)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
enzyme inhibitor  (EXP)
epoxiconazole  (ISO)
farnesol  (EXP)
fenofibrate  (EXP,ISO)
finasteride  (ISO)
folic acid  (ISO)
furan  (ISO)
GDP-beta-S  (EXP)
gentamycin  (ISO)
GW 4064  (EXP)
haloperidol  (EXP)
indometacin  (EXP,ISO)
irinotecan  (EXP)
isobutanol  (EXP)
ivermectin  (EXP)
lead diacetate  (ISO)
leflunomide  (ISO)
melatonin  (ISO)
methapyrilene  (ISO)
morphine  (ISO)
Muraglitazar  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
nitroglycerin  (ISO)
oleic acid  (EXP)
ozone  (ISO)
paracetamol  (EXP,ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP,ISO)
phenobarbital  (ISO)
phlorizin  (ISO)
phosphatidylcholine  (ISO)
picoxystrobin  (EXP)
pioglitazone  (EXP)
pirinixic acid  (ISO)
platycodin D  (EXP)
potassium dichromate  (EXP)
pravastatin  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
propiconazole  (ISO)
quercetin  (EXP)
rac-1,2-dichloropropane  (ISO)
resveratrol  (EXP)
rotenone  (EXP)
rottlerin  (EXP)
sarpogrelate  (EXP)
serotonin  (EXP)
sodium arsenite  (ISO)
soybean oil  (ISO)
stigmasterol  (EXP)
streptozocin  (ISO)
tamoxifen  (ISO)
temozolomide  (EXP)
Tesaglitazar  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
thioacetamide  (ISO)
titanium dioxide  (EXP)
tributylstannane  (ISO)
troglitazone  (ISO)
tunicamycin  (EXP,ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
zaragozic acid A  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
2-aminoadipic 2-oxoadipic aciduria pathway  (EXP)
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)
fatty acid metabolic pathway  (EXP)
glutaric aciduria type I pathway  (EXP)
glyoxylate and dicarboxylate metabolic pathway  (IEA)
hyperlysinemia pathway  (EXP)
isobutyryl-CoA dehydrogenase deficiency pathway  (EXP)
isovaleric acidemia pathway   (EXP)
ketone bodies metabolic pathway  (EXP,IEA,TAS)
Leigh disease pathway  (EXP)
lysine degradation pathway  (EXP,IEA)
malonic aciduria 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)
methylmalonic aciduria, cobalamin-related pathway  (EXP)
primary hyperoxaluria type 2 pathway  (EXP)
propanoate metabolic pathway  (EXP,IEA)
propionic acidemia pathway  (EXP)
pyruvate decarboxylase deficiency pathway  (EXP)
pyruvate dehydrogenase E1 deficiency pathway  (EXP)
pyruvate kinase deficiency of red cells pathway   (EXP)
pyruvate metabolic pathway  (EXP,IEA)
saccharopinuria pathway  (EXP)
short-chain acyl-CoA dehydrogenase deficiency pathway  (EXP)
succinyl-CoA:3-oxoacid transferase deficiency pathway  (EXP)
terpenoid biosynthetic pathway  (IEA)
trifunctional protein deficiency pathway  (EXP)
tryptophan metabolic pathway  (IEA)
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
References

References - curated
# Reference Title Reference Citation
1. [A rare type of bone involvement in scleroderma (author's transl)] Bem Z and Birecka A, Pol Przegl Radiol Med Nukl 1978 Mar-Apr;42(2):115-7.
2. Niacin improves renal lipid metabolism and slows progression in chronic kidney disease. Cho KH, etal., Biochim Biophys Acta. 2010 Jan;1800(1):6-15. Epub 2009 Oct 28.
3. Genes of cholesterol metabolism in human atheroma: overexpression of perilipin and genes promoting cholesterol storage and repression of ABCA1 expression. Forcheron F, etal., Arterioscler Thromb Vasc Biol. 2005 Aug;25(8):1711-7. Epub 2005 Jun 16.
4. Prenatal diagnosis in a family with mitochondrial acetoacetyl-coenzyme A thiolase deficiency with the use of the polymerase chain reaction followed by the heteroduplex detection method. Fukao T, etal., Prenat Diagn. 1995 Apr;15(4):363-7.
5. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
6. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
7. Sterol Regulatory Element-Binding Proteins, Liver X Receptor, ABCA1 Transporter, CD36, Scavenger Receptors A1 and B1 in Nephrotic Kidney. Kim HJ and Vaziri ND, Am J Nephrol. 2009 Jan 16;29(6):607-614.
8. Overexpression of human diacylglycerol acyltransferase 1, acyl-coa:cholesterol acyltransferase 1, or acyl-CoA:cholesterol acyltransferase 2 stimulates secretion of apolipoprotein B-containing lipoproteins in McA-RH7777 cells. Liang JJ, etal., J Biol Chem 2004 Oct 22;279(43):44938-44. Epub 2004 Aug 11.
9. Cerebral ketone body metabolism. Morris AA J Inherit Metab Dis. 2005;28(2):109-21.
10. Naltrexone changes the expression of lipid metabolism-related proteins in the endoplasmic reticulum stress induced hepatic steatosis in mice. Moslehi A, etal., Clin Exp Pharmacol Physiol. 2017 Feb;44(2):207-212. doi: 10.1111/1440-1681.12695.
11. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
12. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
13. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
14. RefSeq and LocusLink: NCBI gene-centered resources Pruitt KD and Maglott DR, Nucleic Acids Res. 2001 Jan 1;29(1):137-40.
15. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
16. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
17. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
18. [Various roentgenomorphological parallels in ulcers of the pyloro-duodenal area] Sokolov IuN, etal., Vestn Rentgenol Radiol 1978 Nov-Dec;(6):3-11.
Additional References at PubMed
PMID:1346617   PMID:1351831   PMID:1627655   PMID:1684944   PMID:1715688   PMID:1979337   PMID:3709573   PMID:4690360   PMID:7173255   PMID:7728148   PMID:7749408   PMID:7907600  
PMID:8103405   PMID:9380443   PMID:9607396   PMID:9700610   PMID:9744475   PMID:12477932   PMID:12754704   PMID:15128923   PMID:15242332   PMID:16341674   PMID:16611982   PMID:16935016  
PMID:17236799   PMID:17353931   PMID:17371050   PMID:18029348   PMID:18393248   PMID:18511318   PMID:18562306   PMID:18996102   PMID:19056867   PMID:19112833   PMID:19738201   PMID:20046049  
PMID:20156697   PMID:20167577   PMID:20877624   PMID:21081666   PMID:21145461   PMID:21791085   PMID:21873635   PMID:21988832   PMID:22057399   PMID:22145905   PMID:22268729   PMID:22586326  
PMID:22623428   PMID:22939629   PMID:23376485   PMID:23443136   PMID:23533145   PMID:23874603   PMID:24311408   PMID:24486017   PMID:24608080   PMID:24711643   PMID:25099943   PMID:25458010  
PMID:25639359   PMID:25659154   PMID:25737280   PMID:25864199   PMID:25921289   PMID:26186194   PMID:26344197   PMID:27264805   PMID:27591049   PMID:27609421   PMID:27748876   PMID:28031328  
PMID:28302793   PMID:28514442   PMID:28581483   PMID:29128334   PMID:29229926   PMID:29395067   PMID:29467282   PMID:29507755   PMID:29509190   PMID:29509794   PMID:29511337   PMID:29568061  
PMID:29793481   PMID:29845934   PMID:30092298   PMID:30196744   PMID:30463901   PMID:30541014   PMID:30575818   PMID:30773093   PMID:30948266   PMID:30997501   PMID:31056398   PMID:31091453  
PMID:31536960   PMID:31586073   PMID:31871319   PMID:31974474   PMID:31980649   PMID:31995728   PMID:32129710   PMID:32203420   PMID:32249768   PMID:32344865   PMID:32416067   PMID:32460013  
PMID:32628020   PMID:32646003   PMID:32707033   PMID:32807901   PMID:32877691   PMID:32941674   PMID:32944968   PMID:32963011   PMID:33022573   PMID:33057949   PMID:33103371   PMID:33545068  
PMID:33658012   PMID:33762435   PMID:33845483   PMID:33961781   PMID:33978362   PMID:34079125   PMID:34244482   PMID:34428256   PMID:34597346   PMID:34709727   PMID:34732716   PMID:34985712  
PMID:35012549   PMID:35256949   PMID:35271311   PMID:35384245   PMID:35509820   PMID:35562734   PMID:35831314   PMID:35944360   PMID:36057605   PMID:36114006   PMID:36215168   PMID:36217030  
PMID:36232890   PMID:36373674   PMID:36424410   PMID:36517760   PMID:36604567   PMID:36610398   PMID:36626481   PMID:36708875   PMID:36890220   PMID:37185457   PMID:37689310   PMID:37827155  
PMID:38289172  


Genomics

Comparative Map Data
ACAT1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811108,116,705 - 108,147,603 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11108,116,695 - 108,147,603 (+)EnsemblGRCh38hg38GRCh38
GRCh3711107,987,432 - 108,018,330 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611107,497,468 - 107,523,485 (+)NCBINCBI36Build 36hg18NCBI36
Build 3411107,497,467 - 107,523,485NCBI
Celera11105,147,145 - 105,173,805 (+)NCBICelera
Cytogenetic Map11q22.3NCBI
HuRef11103,917,783 - 103,944,520 (+)NCBIHuRef
CHM1_111107,875,420 - 107,902,046 (+)NCBICHM1_1
T2T-CHM13v2.011108,124,245 - 108,155,151 (+)NCBIT2T-CHM13v2.0
Acat1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39953,491,822 - 53,521,650 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl953,491,822 - 53,521,682 (-)EnsemblGRCm39 Ensembl
GRCm38953,580,522 - 53,610,350 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl953,580,522 - 53,610,382 (-)EnsemblGRCm38mm10GRCm38
MGSCv37953,388,627 - 53,418,455 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36953,342,917 - 53,372,745 (-)NCBIMGSCv36mm8
Celera950,840,318 - 50,870,157 (-)NCBICelera
Cytogenetic Map9A5.3NCBI
cM Map929.12NCBI
Acat1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8862,876,003 - 62,905,080 (-)NCBIGRCr8
mRatBN7.2853,979,813 - 54,008,861 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl853,979,813 - 54,008,855 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx859,505,211 - 59,534,213 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0857,784,239 - 57,813,235 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0855,648,477 - 55,677,476 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0858,166,990 - 58,195,884 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl858,166,990 - 58,195,884 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0856,749,861 - 56,778,336 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4857,044,478 - 57,072,970 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1857,063,521 - 57,092,024 (-)NCBI
Celera853,470,530 - 53,499,505 (-)NCBICelera
Cytogenetic Map8q24NCBI
Acat1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541210,349,593 - 10,369,806 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541210,350,088 - 10,369,806 (+)NCBIChiLan1.0ChiLan1.0
ACAT1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v29108,866,381 - 108,892,867 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan111109,959,287 - 109,985,798 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v011103,008,564 - 103,034,697 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.111106,483,563 - 106,509,793 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl11106,483,563 - 106,509,787 (+)Ensemblpanpan1.1panPan2
ACAT1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1524,361,301 - 24,379,807 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl524,361,301 - 24,379,812 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha524,286,784 - 24,306,232 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0524,389,926 - 24,409,658 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl524,389,926 - 24,409,643 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1524,437,216 - 24,456,918 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0524,338,692 - 24,358,333 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0524,396,960 - 24,416,675 (-)NCBIUU_Cfam_GSD_1.0
Acat1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494790,910,486 - 90,941,886 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936551591,695 - 626,056 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936551594,647 - 626,016 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ACAT1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl936,525,261 - 36,545,633 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1936,525,266 - 36,545,634 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2940,601,654 - 40,622,145 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ACAT1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1199,552,760 - 99,580,079 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl199,552,838 - 99,579,914 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604326,378,291 - 26,404,565 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Acat1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247842,833,344 - 2,879,043 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ACAT1
557 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000019.4(ACAT1):c.649_652del (p.Asn217fs) deletion Deficiency of acetyl-CoA acetyltransferase [RCV003460297] Chr11:108140131..108140134 [GRCh38]
Chr11:108010858..108010861 [GRCh37]
Chr11:11q22.3		 pathogenic|likely pathogenic
NM_000019.4(ACAT1):c.1138G>A (p.Ala380Thr) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000002966] Chr11:108146334 [GRCh38]
Chr11:108017061 [GRCh37]
Chr11:11q22.3		 pathogenic|likely pathogenic
NM_000019.4(ACAT1):c.547G>A (p.Gly183Arg) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000002967] Chr11:108139009 [GRCh38]
Chr11:108009736 [GRCh37]
Chr11:11q22.3		 pathogenic|likely pathogenic
ACAT1, IVS8, G-T, +1 single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000002968] Chr11:11q22.3-q23.1 pathogenic
NM_000019.4(ACAT1):c.1006-2A>C single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000002969]|not provided [RCV003329225] Chr11:108146200 [GRCh38]
Chr11:108016927 [GRCh37]
Chr11:11q22.3		 pathogenic
ACAT1, IVS10, G-C, -1 single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000002970] Chr11:11q22.3-q23.1 pathogenic
NM_000019.4(ACAT1):c.1163+2T>C single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000002971] Chr11:108146361 [GRCh38]
Chr11:108017088 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.2T>A (p.Met1Lys) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000002972] Chr11:108121608 [GRCh38]
Chr11:107992335 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.1136G>T (p.Gly379Val) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000002973] Chr11:108146332 [GRCh38]
Chr11:108017059 [GRCh37]
Chr11:11q22.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000019.4(ACAT1):c.814C>T (p.Gln272Ter) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000002974]|not provided [RCV000077933] Chr11:108141688 [GRCh38]
Chr11:108012415 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.1032AGA[1] (p.Glu345del) microsatellite Deficiency of acetyl-CoA acetyltransferase [RCV000002975] Chr11:108146227..108146229 [GRCh38]
Chr11:108016954..108016956 [GRCh37]
Chr11:11q22.3		 pathogenic|likely pathogenic
NM_000019.4(ACAT1):c.1083dup (p.Ala362fs) duplication Deficiency of acetyl-CoA acetyltransferase [RCV000002976] Chr11:108146278..108146279 [GRCh38]
Chr11:108017005..108017006 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.278A>G (p.Asn93Ser) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000002977] Chr11:108134260 [GRCh38]
Chr11:108004987 [GRCh37]
Chr11:11q22.3		 pathogenic|likely pathogenic
NM_000019.4(ACAT1):c.935T>C (p.Ile312Thr) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000002978] Chr11:108142545 [GRCh38]
Chr11:108013272 [GRCh37]
Chr11:11q22.3		 pathogenic|likely pathogenic
NM_000019.4(ACAT1):c.997G>C (p.Ala333Pro) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000002979] Chr11:108144039 [GRCh38]
Chr11:108014766 [GRCh37]
Chr11:11q22.3		 pathogenic|likely pathogenic
NM_000019.4(ACAT1):c.433C>G (p.Gln145Glu) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000002980]|not specified [RCV003323348] Chr11:108135240 [GRCh38]
Chr11:108005967 [GRCh37]
Chr11:11q22.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3 copy number gain See cases [RCV000053638] Chr11:100348599..135040246 [GRCh38]
Chr11:100219331..134910140 [GRCh37]
Chr11:99724541..134415350 [NCBI36]
Chr11:11q22.1-25		 pathogenic
NM_000019.4(ACAT1):c.-9T>A single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000336276]|not provided [RCV001647045]|not specified [RCV000077928] Chr11:108121598 [GRCh38]
Chr11:107992325 [GRCh37]
Chr11:11q22.3		 benign
NM_000019.4(ACAT1):c.13G>C (p.Ala5Pro) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000391653]|not provided [RCV001647046]|not specified [RCV000077929] Chr11:108121619 [GRCh38]
Chr11:107992346 [GRCh37]
Chr11:11q22.3		 benign
NM_000019.4(ACAT1):c.471C>A (p.Ser157=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000366294]|not provided [RCV001668182]|not specified [RCV000077930] Chr11:108138933 [GRCh38]
Chr11:108009660 [GRCh37]
Chr11:11q22.3		 benign|likely benign
NM_000019.4(ACAT1):c.472A>G (p.Asn158Asp) single nucleotide variant ACAT1-related condition [RCV003915046]|Deficiency of acetyl-CoA acetyltransferase [RCV000179235]|not provided [RCV000077931] Chr11:108138934 [GRCh38]
Chr11:108009661 [GRCh37]
Chr11:11q22.3		 pathogenic|likely pathogenic
NM_000019.4(ACAT1):c.730+2T>C single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001193469]|not provided [RCV000179697] Chr11:108140217 [GRCh38]
Chr11:108010944 [GRCh37]
Chr11:11q22.3		 pathogenic|likely pathogenic
NM_000019.4(ACAT1):c.905del (p.Lys302fs) deletion Deficiency of acetyl-CoA acetyltransferase [RCV002515751]|not provided [RCV000180451] Chr11:108142514 [GRCh38]
Chr11:108013241 [GRCh37]
Chr11:11q22.3		 pathogenic|likely pathogenic
NM_000019.4(ACAT1):c.91C>T (p.Arg31Trp) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002513813]|not provided [RCV000077935] Chr11:108131925 [GRCh38]
Chr11:108002652 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.1006-4_1006-1delinsAAA indel not provided [RCV000173953] Chr11:108146198..108146201 [GRCh38]
Chr11:108016925..108016928 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.203G>T (p.Gly68Val) single nucleotide variant not provided [RCV000176963] Chr11:108133902 [GRCh38]
Chr11:108004629 [GRCh37]
Chr11:11q22.3		 likely pathogenic
NM_000019.4(ACAT1):c.765A>T (p.Glu255Asp) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000844809]|not provided [RCV000180091]|not specified [RCV003230437] Chr11:108141639 [GRCh38]
Chr11:108012366 [GRCh37]
Chr11:11q22.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_000019.4(ACAT1):c.766T>A (p.Tyr256Asn) single nucleotide variant Inborn genetic diseases [RCV002516810]|not provided [RCV000180092] Chr11:108141640 [GRCh38]
Chr11:108012367 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.436-4G>A single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000309219]|not specified [RCV000179234] Chr11:108138894 [GRCh38]
Chr11:108009621 [GRCh37]
Chr11:11q22.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000019.4(ACAT1):c.455G>C (p.Gly152Ala) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000779680]|not provided [RCV000179236] Chr11:108138917 [GRCh38]
Chr11:108009644 [GRCh37]
Chr11:11q22.3		 pathogenic|likely pathogenic
NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000179237]|not provided [RCV000723373] Chr11:108138935 [GRCh38]
Chr11:108009662 [GRCh37]
Chr11:11q22.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000019.4(ACAT1):c.623G>A (p.Arg208Gln) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000844797]|not provided [RCV000179698] Chr11:108140108 [GRCh38]
Chr11:108010835 [GRCh37]
Chr11:11q22.3		 pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3		 pathogenic
NM_000019.4(ACAT1):c.60G>C (p.Arg20=) single nucleotide variant ACAT1-related condition [RCV003927577]|Deficiency of acetyl-CoA acetyltransferase [RCV001086332]|not provided [RCV000173048] Chr11:108121666 [GRCh38]
Chr11:107992393 [GRCh37]
Chr11:11q22.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000019.4(ACAT1):c.941-14C>T single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001106416]|not provided [RCV000173616] Chr11:108143969 [GRCh38]
Chr11:108014696 [GRCh37]
Chr11:11q22.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_000019.4(ACAT1):c.941-7del deletion Deficiency of acetyl-CoA acetyltransferase [RCV003497837]|not provided [RCV000173617] Chr11:108143970 [GRCh38]
Chr11:108014703 [GRCh37]
Chr11:11q22.3		 benign|uncertain significance
GRCh38/hg38 11q22.3(chr11:107479091-108222532)x1 copy number loss See cases [RCV000136500] Chr11:107479091..108222532 [GRCh38]
Chr11:107349817..108093259 [GRCh37]
Chr11:106855027..107598469 [NCBI36]
Chr11:11q22.3		 pathogenic
GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1 copy number loss See cases [RCV000138038] Chr11:91086659..109595582 [GRCh38]
Chr11:90819827..109466308 [GRCh37]
Chr11:90459475..108971518 [NCBI36]
Chr11:11q14.3-22.3		 pathogenic
NM_000019.4(ACAT1):c.-15C>G single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000297661]|not specified [RCV000152742] Chr11:108121592 [GRCh38]
Chr11:107992319 [GRCh37]
Chr11:11q22.3		 benign|likely benign
NM_000019.4(ACAT1):c.941-15_941-14del deletion not specified [RCV000152745] Chr11:108143958..108143959 [GRCh38]
Chr11:108014685..108014686 [GRCh37]
Chr11:11q22.3		 benign
NM_000019.4(ACAT1):c.444_445del (p.Met148fs) deletion Deficiency of acetyl-CoA acetyltransferase [RCV000179238]|not provided [RCV000152743] Chr11:108138906..108138907 [GRCh38]
Chr11:108009633..108009634 [GRCh37]
Chr11:11q22.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000019.4(ACAT1):c.826+1G>T single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000180090]|not provided [RCV000790759] Chr11:108141701 [GRCh38]
Chr11:108012428 [GRCh37]
Chr11:11q22.3		 pathogenic|likely pathogenic
NM_000019.4(ACAT1):c.149del (p.Thr50fs) deletion Deficiency of acetyl-CoA acetyltransferase [RCV000190421] Chr11:108133848 [GRCh38]
Chr11:108004575 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.757G>A (p.Asp253Asn) single nucleotide variant Inborn genetic diseases [RCV000210547] Chr11:108141631 [GRCh38]
Chr11:108012358 [GRCh37]
Chr11:11q22.3		 pathogenic|likely pathogenic
GRCh37/hg19 11q22.3(chr11:107554267-108004957)x3 copy number gain Premature ovarian failure [RCV000225269] Chr11:107554267..108004957 [GRCh37]
Chr11:11q22.3		 benign
NM_000019.4(ACAT1):c.182TGC[1] (p.Leu62del) microsatellite not provided [RCV000756959] Chr11:108133881..108133883 [GRCh38]
Chr11:108004608..108004610 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.653C>T (p.Ser218Phe) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000239383] Chr11:108140138 [GRCh38]
Chr11:108010865 [GRCh37]
Chr11:11q22.3		 pathogenic|likely pathogenic
NM_000019.4(ACAT1):c.903G>A (p.Ala301=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000369451] Chr11:108142513 [GRCh38]
Chr11:108013240 [GRCh37]
Chr11:11q22.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000019.4(ACAT1):c.1217A>G (p.Glu406Gly) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000371458]|not provided [RCV003321580] Chr11:108147323 [GRCh38]
Chr11:108018050 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.3(ACAT1):c.*507G>A single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000287170] Chr11:108147897 [GRCh38]
Chr11:108018624 [GRCh37]
Chr11:11q22.3		 benign|likely benign
NM_000019.3(ACAT1):c.*599A>C single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000348219] Chr11:108147989 [GRCh38]
Chr11:108018716 [GRCh37]
Chr11:11q22.3		 benign
NM_000019.4(ACAT1):c.532T>C (p.Leu178=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000269072] Chr11:108138994 [GRCh38]
Chr11:108009721 [GRCh37]
Chr11:11q22.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_000019.4(ACAT1):c.770A>C (p.Lys257Thr) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000326429]|Inborn genetic diseases [RCV002520669] Chr11:108141644 [GRCh38]
Chr11:108012371 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.3(ACAT1):c.*703T>C single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000288612] Chr11:108148093 [GRCh38]
Chr11:108018820 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.3(ACAT1):c.*753C>T single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000350632] Chr11:108148143 [GRCh38]
Chr11:108018870 [GRCh37]
Chr11:11q22.3		 likely benign|uncertain significance
NM_000019.4(ACAT1):c.978A>C (p.Pro326=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000330121] Chr11:108144020 [GRCh38]
Chr11:108014747 [GRCh37]
Chr11:11q22.3		 benign|likely benign
NM_000019.3(ACAT1):c.*555A>G single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000378326] Chr11:108147945 [GRCh38]
Chr11:108018672 [GRCh37]
Chr11:11q22.3		 benign|likely benign
NM_000019.4(ACAT1):c.*179T>G single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000310094] Chr11:108147569 [GRCh38]
Chr11:108018296 [GRCh37]
Chr11:11q22.3		 benign|likely benign
NM_000019.4(ACAT1):c.291A>T (p.Gly97=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000403383] Chr11:108134273 [GRCh38]
Chr11:108005000 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.3(ACAT1):c.*291A>C single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000275120] Chr11:108147681 [GRCh38]
Chr11:108018408 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.941-14_941-13insCT insertion Deficiency of acetyl-CoA acetyltransferase [RCV000277227] Chr11:108143969..108143970 [GRCh38]
Chr11:108014696..108014697 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.-28T>A single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000294268] Chr11:108121579 [GRCh38]
Chr11:107992306 [GRCh37]
Chr11:11q22.3		 benign|likely benign
NM_000019.4(ACAT1):c.1222G>C (p.Gly408Arg) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000279256] Chr11:108147328 [GRCh38]
Chr11:108018055 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.3(ACAT1):c.-70T>A single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000386603] Chr11:108121537 [GRCh38]
Chr11:107992264 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.3(ACAT1):c.*250C>T single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000315243] Chr11:108147640 [GRCh38]
Chr11:108018367 [GRCh37]
Chr11:11q22.3		 benign|likely benign
NM_000019.3(ACAT1):c.*214G>C single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000364064] Chr11:108147604 [GRCh38]
Chr11:108018331 [GRCh37]
Chr11:11q22.3		 benign|uncertain significance
NM_000019.3(ACAT1):c.*293A>T single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000318533] Chr11:108147683 [GRCh38]
Chr11:108018410 [GRCh37]
Chr11:11q22.3		 benign|likely benign
NM_000019.3(ACAT1):c.*258G>A single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000367564] Chr11:108147648 [GRCh38]
Chr11:108018375 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1006-10A>G single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000280960] Chr11:108146192 [GRCh38]
Chr11:108016919 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.1068T>C (p.Phe356=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000319570] Chr11:108146264 [GRCh38]
Chr11:108016991 [GRCh37]
Chr11:11q22.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000019.4(ACAT1):c.-22C>T single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000391640] Chr11:108121585 [GRCh38]
Chr11:107992312 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.3(ACAT1):c.*553T>A single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000321166] Chr11:108147943 [GRCh38]
Chr11:108018670 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.3(ACAT1):c.*393A>G single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000259964] Chr11:108147783 [GRCh38]
Chr11:108018510 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.*55T>C single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000283145] Chr11:108147445 [GRCh38]
Chr11:108018172 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.890C>T (p.Thr297Met) single nucleotide variant ACAT1-related condition [RCV003417871]|Deficiency of acetyl-CoA acetyltransferase [RCV000844818]|not provided [RCV000318454] Chr11:108142500 [GRCh38]
Chr11:108013227 [GRCh37]
Chr11:11q22.3		 pathogenic|likely pathogenic
NM_000019.3(ACAT1):c.*344T>C single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000357042] Chr11:108147734 [GRCh38]
Chr11:108018461 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.-22C>G single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000337537]|not provided [RCV001683219] Chr11:108121585 [GRCh38]
Chr11:107992312 [GRCh37]
Chr11:11q22.3		 benign|likely benign
NM_000019.4(ACAT1):c.*6dup duplication Deficiency of acetyl-CoA acetyltransferase [RCV000399813]|not provided [RCV001711854]|not specified [RCV000266805] Chr11:108147394..108147395 [GRCh38]
Chr11:108018121..108018122 [GRCh37]
Chr11:11q22.3		 benign|likely benign
NM_000019.4(ACAT1):c.979A>G (p.Ile327Val) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000387013]|Inborn genetic diseases [RCV003165821]|not provided [RCV001785553] Chr11:108144021 [GRCh38]
Chr11:108014748 [GRCh37]
Chr11:11q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000019.4(ACAT1):c.1229C>T (p.Ala410Val) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000341325] Chr11:108147335 [GRCh38]
Chr11:108018062 [GRCh37]
Chr11:11q22.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_000019.4(ACAT1):c.1253G>A (p.Gly418Asp) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000811411]|not provided [RCV000370142] Chr11:108147359 [GRCh38]
Chr11:108018086 [GRCh37]
Chr11:11q22.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_000019.4(ACAT1):c.1198C>T (p.His400Tyr) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000551612]|Inborn genetic diseases [RCV003362836] Chr11:108147304 [GRCh38]
Chr11:108018031 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.10C>G (p.Leu4Val) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001559199] Chr11:108121616 [GRCh38]
Chr11:107992343 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.171C>A (p.Gly57=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001278341] Chr11:108133870 [GRCh38]
Chr11:108004597 [GRCh37]
Chr11:11q22.3		 likely benign|uncertain significance
NM_000019.4(ACAT1):c.921A>G (p.Thr307=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001278345] Chr11:108142531 [GRCh38]
Chr11:108013258 [GRCh37]
Chr11:11q22.3		 likely benign|uncertain significance
NM_000019.4(ACAT1):c.436G>A (p.Asp146Asn) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001278342] Chr11:108138898 [GRCh38]
Chr11:108009625 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.990A>G (p.Val330=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001278346] Chr11:108144032 [GRCh38]
Chr11:108014759 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.1277A>C (p.Lys426Thr) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001278348] Chr11:108147383 [GRCh38]
Chr11:108018110 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.3(ACAT1):c.*675A>C single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000399149] Chr11:108148065 [GRCh38]
Chr11:108018792 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.15G>C (p.Ala5=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000305898] Chr11:108121621 [GRCh38]
Chr11:107992348 [GRCh37]
Chr11:11q22.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_000019.3(ACAT1):c.*464A>G single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000317770] Chr11:108147854 [GRCh38]
Chr11:108018581 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.3(ACAT1):c.*777_*780delAATT microsatellite Deficiency of acetyl-CoA acetyltransferase [RCV000345943] Chr11:108148167..108148170 [GRCh38]
Chr11:108018894..108018897 [GRCh37]
Chr11:11q22.3		 benign
NM_000019.4(ACAT1):c.*123_*127dup duplication Deficiency of acetyl-CoA acetyltransferase [RCV000407590] Chr11:108147510..108147511 [GRCh38]
Chr11:108018237..108018238 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.3(ACAT1):c.*234_*235delCT deletion Deficiency of acetyl-CoA acetyltransferase [RCV000407592] Chr11:108147623..108147624 [GRCh38]
Chr11:108018350..108018351 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.*107dup duplication Deficiency of acetyl-CoA acetyltransferase [RCV000340417] Chr11:108147491..108147492 [GRCh38]
Chr11:108018218..108018219 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.29G>A (p.Ser10Asn) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000358143] Chr11:108121635 [GRCh38]
Chr11:107992362 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.3(ACAT1):c.*591A>T single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000290797] Chr11:108147981 [GRCh38]
Chr11:108018708 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.3(ACAT1):c.*467_*470dup duplication Deficiency of acetyl-CoA acetyltransferase [RCV000379304] Chr11:108147855..108147856 [GRCh38]
Chr11:108018582..108018583 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.967A>G (p.Ile323Val) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000639012] Chr11:108144009 [GRCh38]
Chr11:108014736 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.983C>T (p.Ala328Val) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001276023]|not specified [RCV000414326] Chr11:108144025 [GRCh38]
Chr11:108014752 [GRCh37]
Chr11:11q22.3		 uncertain significance
GRCh37/hg19 11q22.3(chr11:107950570-107999380)x1 copy number loss See cases [RCV000445847] Chr11:107950570..107999380 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1200_1207del (p.His400fs) deletion Deficiency of acetyl-CoA acetyltransferase [RCV001828394]|not provided [RCV000424025] Chr11:108147305..108147312 [GRCh38]
Chr11:108018032..108018039 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.622C>T (p.Arg208Ter) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000689417]|not provided [RCV000434420] Chr11:108140107 [GRCh38]
Chr11:108010834 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.1199A>G (p.His400Arg) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000505498] Chr11:108147305 [GRCh38]
Chr11:108018032 [GRCh37]
Chr11:11q22.3		 likely pathogenic|uncertain significance
NM_000019.4(ACAT1):c.85G>T (p.Val29Leu) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001833539]|not provided [RCV000444703] Chr11:108131919 [GRCh38]
Chr11:108002646 [GRCh37]
Chr11:11q22.3		 uncertain significance
GRCh37/hg19 11q14.2-22.3(chr11:88152458-109414650)x1 copy number loss See cases [RCV000510457] Chr11:88152458..109414650 [GRCh37]
Chr11:11q14.2-22.3		 pathogenic
NM_000019.4(ACAT1):c.1160T>C (p.Ile387Thr) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000662283]|not provided [RCV000493456] Chr11:108146356 [GRCh38]
Chr11:108017083 [GRCh37]
Chr11:11q22.3		 pathogenic|likely pathogenic
NM_000019.4(ACAT1):c.1006-1G>C single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000002970]|not provided [RCV000493713] Chr11:108146201 [GRCh38]
Chr11:108016928 [GRCh37]
Chr11:11q22.3		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_000019.4(ACAT1):c.1223G>T (p.Gly408Val) single nucleotide variant not provided [RCV000493426] Chr11:108147329 [GRCh38]
Chr11:108018056 [GRCh37]
Chr11:11q22.3		 uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_000019.3(ACAT1):c.1006-10_1006-9ins171 insertion Deficiency of acetyl-CoA acetyltransferase [RCV000639013] Chr11:108146192..108146193 [GRCh38]
Chr11:108016919..108016920 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.1033_1034del (p.Glu345fs) deletion Deficiency of acetyl-CoA acetyltransferase [RCV000844832]|not provided [RCV000627576] Chr11:108146228..108146229 [GRCh38]
Chr11:108016955..108016956 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.1043del (p.Ala348fs) deletion Deficiency of acetyl-CoA acetyltransferase [RCV000721971] Chr11:108146239 [GRCh38]
Chr11:108016966 [GRCh37]
Chr11:11q22.3		 likely pathogenic
GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3 copy number gain not provided [RCV000683374] Chr11:71588805..116680918 [GRCh37]
Chr11:11q13.4-23.3		 pathogenic
NM_000019.4(ACAT1):c.435+78A>C single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001548824]|not provided [RCV001676050] Chr11:108135320 [GRCh38]
Chr11:108006047 [GRCh37]
Chr11:11q22.3		 benign
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11q14.1-23.2(chr11:80053454-113316236)x1 copy number loss not provided [RCV000737595] Chr11:80053454..113316236 [GRCh37]
Chr11:11q14.1-23.2		 pathogenic
NM_000019.4(ACAT1):c.131T>C (p.Ile44Thr) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001647335] Chr11:108133830 [GRCh38]
Chr11:108004557 [GRCh37]
Chr11:11q22.3		 likely pathogenic
NM_000019.4(ACAT1):c.731-214_731-210del deletion not provided [RCV001679296] Chr11:108141370..108141374 [GRCh38]
Chr11:108012097..108012101 [GRCh37]
Chr11:11q22.3		 benign
NM_000019.4(ACAT1):c.489G>T (p.Met163Ile) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001827521]|not provided [RCV001586517] Chr11:108138951 [GRCh38]
Chr11:108009678 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.421A>T (p.Met141Leu) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001869045]|not provided [RCV000761800] Chr11:108135228 [GRCh38]
Chr11:108005955 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.861T>A (p.Asn287Lys) single nucleotide variant not provided [RCV000761801] Chr11:108142471 [GRCh38]
Chr11:108013198 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.436-244T>C single nucleotide variant not provided [RCV001641214] Chr11:108138654 [GRCh38]
Chr11:108009381 [GRCh37]
Chr11:11q22.3		 benign
NM_000019.4(ACAT1):c.263A>C (p.Glu88Ala) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001647336] Chr11:108134245 [GRCh38]
Chr11:108004972 [GRCh37]
Chr11:11q22.3		 likely pathogenic
NM_000019.4(ACAT1):c.229G>A (p.Glu77Lys) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001559200] Chr11:108133928 [GRCh38]
Chr11:108004655 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.435+187G>C single nucleotide variant not provided [RCV001665224] Chr11:108135429 [GRCh38]
Chr11:108006156 [GRCh37]
Chr11:11q22.3		 benign
NM_000019.4(ACAT1):c.435+136G>A single nucleotide variant not provided [RCV001668779] Chr11:108135378 [GRCh38]
Chr11:108006105 [GRCh37]
Chr11:11q22.3		 benign
NM_000019.4(ACAT1):c.335-248C>G single nucleotide variant not provided [RCV001707034] Chr11:108134894 [GRCh38]
Chr11:108005621 [GRCh37]
Chr11:11q22.3		 benign
NM_000019.4(ACAT1):c.603A>G (p.Ala201=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001474247] Chr11:108140088 [GRCh38]
Chr11:108010815 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.384A>G (p.Ser128=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000982276] Chr11:108135191 [GRCh38]
Chr11:108005918 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.436-4G>C single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000948317] Chr11:108138894 [GRCh38]
Chr11:108009621 [GRCh37]
Chr11:11q22.3		 likely benign|conflicting interpretations of pathogenicity
NM_000019.4(ACAT1):c.940+2T>C single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001042879] Chr11:108142552 [GRCh38]
Chr11:108013279 [GRCh37]
Chr11:11q22.3		 likely pathogenic
NM_000019.4(ACAT1):c.826+85_826+86insGTAA insertion Deficiency of acetyl-CoA acetyltransferase [RCV001548825]|not provided [RCV001615055]|not specified [RCV000779681] Chr11:108141783..108141784 [GRCh38]
Chr11:108012510..108012511 [GRCh37]
Chr11:11q22.3		 benign
NM_000019.4(ACAT1):c.731-28G>A single nucleotide variant not specified [RCV000780812] Chr11:108141577 [GRCh38]
Chr11:108012304 [GRCh37]
Chr11:11q22.3		 benign
NM_000019.4(ACAT1):c.687G>A (p.Gly229=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001505072] Chr11:108140172 [GRCh38]
Chr11:108010899 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1221C>T (p.Tyr407=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000929611] Chr11:108147327 [GRCh38]
Chr11:108018054 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.580-7T>C single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000940497] Chr11:108140058 [GRCh38]
Chr11:108010785 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.436-5C>T single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000871316] Chr11:108138893 [GRCh38]
Chr11:108009620 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.436-7T>C single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000979471] Chr11:108138891 [GRCh38]
Chr11:108009618 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.52dup (p.Leu18fs) duplication Deficiency of acetyl-CoA acetyltransferase [RCV000780811] Chr11:108121653..108121654 [GRCh38]
Chr11:107992380..107992381 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.527A>G (p.Glu176Gly) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003314434] Chr11:108138989 [GRCh38]
Chr11:108009716 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.768T>C (p.Tyr256=) single nucleotide variant not provided [RCV000914922] Chr11:108141642 [GRCh38]
Chr11:108012369 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1105A>G (p.Ile369Val) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000813429] Chr11:108146301 [GRCh38]
Chr11:108017028 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.274G>A (p.Gly92Ser) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000799776] Chr11:108134256 [GRCh38]
Chr11:108004983 [GRCh37]
Chr11:11q22.3		 pathogenic|uncertain significance
NC_000011.10:g.(?_108147260)_(108147400_?)del deletion Deficiency of acetyl-CoA acetyltransferase [RCV000821929] Chr11:108147260..108147400 [GRCh38]
Chr11:108017987..108018127 [GRCh37]
Chr11:11q22.3		 likely pathogenic
NM_000019.4(ACAT1):c.622C>G (p.Arg208Gly) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000801801] Chr11:108140107 [GRCh38]
Chr11:108010834 [GRCh37]
Chr11:11q22.3		 uncertain significance
GRCh37/hg19 11q22.3(chr11:107546688-108077391)x3 copy number gain not provided [RCV000849110] Chr11:107546688..108077391 [GRCh37]
Chr11:11q22.3		 uncertain significance
GRCh37/hg19 11q22.3-23.3(chr11:104101411-116680918)x1 copy number loss not provided [RCV000848741] Chr11:104101411..116680918 [GRCh37]
Chr11:11q22.3-23.3		 pathogenic
NC_000011.10:g.(?_108138888)_(108140225_?)del deletion Deficiency of acetyl-CoA acetyltransferase [RCV000813331] Chr11:108138888..108140225 [GRCh38]
Chr11:108009615..108010952 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.1A>G (p.Met1Val) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000844765] Chr11:108121607 [GRCh38]
Chr11:107992334 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.2T>C (p.Met1Thr) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000844766] Chr11:108121608 [GRCh38]
Chr11:107992335 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.79A>T (p.Arg27Ter) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000844767] Chr11:108131913 [GRCh38]
Chr11:108002640 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.83_84del (p.Tyr28fs) microsatellite Deficiency of acetyl-CoA acetyltransferase [RCV000844768] Chr11:108131915..108131916 [GRCh38]
Chr11:108002642..108002643 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.86_87dup (p.Glu30fs) microsatellite Deficiency of acetyl-CoA acetyltransferase [RCV000844769] Chr11:108131917..108131918 [GRCh38]
Chr11:108002644..108002645 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.99T>A (p.Tyr33Ter) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000844770] Chr11:108131933 [GRCh38]
Chr11:108002660 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.121-3C>G single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000844771] Chr11:108133817 [GRCh38]
Chr11:108004544 [GRCh37]
Chr11:11q22.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_000019.4(ACAT1):c.121-13T>A single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000844772] Chr11:108133807 [GRCh38]
Chr11:108004534 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.163_167delinsAA (p.Phe55_Leu56delinsLys) indel Deficiency of acetyl-CoA acetyltransferase [RCV000844773] Chr11:108133862..108133866 [GRCh38]
Chr11:108004589..108004593 [GRCh37]
Chr11:11q22.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_000019.4(ACAT1):c.218A>C (p.Gln73Pro) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000844774] Chr11:108133917 [GRCh38]
Chr11:108004644 [GRCh37]
Chr11:11q22.3		 likely pathogenic
NM_000019.4(ACAT1):c.248AAG[2] (p.Glu85del) microsatellite Deficiency of acetyl-CoA acetyltransferase [RCV000844775] Chr11:108134230..108134232 [GRCh38]
Chr11:108004957..108004959 [GRCh37]
Chr11:11q22.3		 likely pathogenic|conflicting interpretations of pathogenicity
NM_000019.4(ACAT1):c.286C>T (p.Gln96Ter) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000844776] Chr11:108134268 [GRCh38]
Chr11:108004995 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.299G>A (p.Gly100Glu) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000844777] Chr11:108134281 [GRCh38]
Chr11:108005008 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.301C>A (p.Gln101Lys) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000844778] Chr11:108134283 [GRCh38]
Chr11:108005010 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.334+1G>A single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000844779] Chr11:108134317 [GRCh38]
Chr11:108005044 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.354_355delinsG (p.Cys119fs) indel Deficiency of acetyl-CoA acetyltransferase [RCV000844780] Chr11:108135161..108135162 [GRCh38]
Chr11:108005888..108005889 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.370A>G (p.Lys124Glu) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000844781] Chr11:108135177 [GRCh38]
Chr11:108005904 [GRCh37]
Chr11:11q22.3		 likely pathogenic
NM_000019.4(ACAT1):c.371A>G (p.Lys124Arg) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000844782] Chr11:108135178 [GRCh38]
Chr11:108005905 [GRCh37]
Chr11:11q22.3		 likely pathogenic
NM_000019.4(ACAT1):c.377G>C (p.Cys126Ser) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000844783]|not provided [RCV003442119] Chr11:108135184 [GRCh38]
Chr11:108005911 [GRCh37]
Chr11:11q22.3		 pathogenic|likely pathogenic
NM_000019.4(ACAT1):c.380C>T (p.Ala127Val) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000844784] Chr11:108135187 [GRCh38]
Chr11:108005914 [GRCh37]
Chr11:11q22.3		 pathogenic|likely pathogenic
NM_000019.4(ACAT1):c.395C>G (p.Ala132Gly) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000844785] Chr11:108135202 [GRCh38]
Chr11:108005929 [GRCh37]
Chr11:11q22.3		 likely pathogenic
NM_000019.4(ACAT1):c.414_415del (p.Leu140fs) deletion Deficiency of acetyl-CoA acetyltransferase [RCV000844786] Chr11:108135220..108135221 [GRCh38]
Chr11:108005947..108005948 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.431A>C (p.His144Pro) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000844787] Chr11:108135238 [GRCh38]
Chr11:108005965 [GRCh37]
Chr11:11q22.3		 likely pathogenic
NM_000019.4(ACAT1):c.435+1G>A single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000844788] Chr11:108135243 [GRCh38]
Chr11:108005970 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.446del (p.Val149fs) deletion Deficiency of acetyl-CoA acetyltransferase [RCV000844789] Chr11:108138908 [GRCh38]
Chr11:108009635 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.460G>A (p.Glu154Lys) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000844790] Chr11:108138922 [GRCh38]
Chr11:108009649 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.462_482delinsTCCTC (p.Glu154fs) indel Deficiency of acetyl-CoA acetyltransferase [RCV000844791] Chr11:108138924..108138944 [GRCh38]
Chr11:108009651..108009671 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.534G>T (p.Leu178Phe) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000844792] Chr11:108138996 [GRCh38]
Chr11:108009723 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.556G>T (p.Asp186Tyr) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000844793] Chr11:108139018 [GRCh38]
Chr11:108009745 [GRCh37]
Chr11:11q22.3		 likely pathogenic
NM_000019.4(ACAT1):c.578T>C (p.Met193Thr) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000844794] Chr11:108139040 [GRCh38]
Chr11:108009767 [GRCh37]
Chr11:11q22.3		 pathogenic|likely pathogenic
NM_000019.4(ACAT1):c.578T>G (p.Met193Arg) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000844795] Chr11:108139040 [GRCh38]
Chr11:108009767 [GRCh37]
Chr11:11q22.3		 pathogenic|likely pathogenic
NM_000019.4(ACAT1):c.602C>T (p.Ala201Val) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000844796] Chr11:108140087 [GRCh38]
Chr11:108010814 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.655T>C (p.Tyr219His) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000844798] Chr11:108140140 [GRCh38]
Chr11:108010867 [GRCh37]
Chr11:11q22.3		 likely pathogenic
NM_000019.4(ACAT1):c.643_644delinsAA (p.Ala215Asn) indel Deficiency of acetyl-CoA acetyltransferase [RCV000844799] Chr11:108140128..108140129 [GRCh38]
Chr11:108010855..108010856 [GRCh37]
Chr11:11q22.3		 likely pathogenic
NM_000019.4(ACAT1):c.664A>C (p.Ser222Arg) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000844800] Chr11:108140149 [GRCh38]
Chr11:108010876 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.674C>A (p.Ala225Glu) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000844801] Chr11:108140159 [GRCh38]
Chr11:108010886 [GRCh37]
Chr11:11q22.3		 likely pathogenic
NM_000019.4(ACAT1):c.730+1G>A single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000844802] Chr11:108140216 [GRCh38]
Chr11:108010943 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.731-46_752del deletion Deficiency of acetyl-CoA acetyltransferase [RCV000844803] Chr11:108141555..108141622 [GRCh38]
Chr11:108012282..108012349 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.754_755insCT (p.Glu252fs) insertion Deficiency of acetyl-CoA acetyltransferase [RCV000844804] Chr11:108141628..108141629 [GRCh38]
Chr11:108012355..108012356 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.753AGA[1] (p.Glu252del) microsatellite Deficiency of acetyl-CoA acetyltransferase [RCV000844805] Chr11:108141626..108141628 [GRCh38]
Chr11:108012353..108012355 [GRCh37]
Chr11:11q22.3		 likely pathogenic
NM_000019.4(ACAT1):c.759T>A (p.Asp253Glu) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000844806] Chr11:108141633 [GRCh38]
Chr11:108012360 [GRCh37]
Chr11:11q22.3		 likely pathogenic
NM_000019.4(ACAT1):c.760G>A (p.Glu254Lys) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000844807] Chr11:108141634 [GRCh38]
Chr11:108012361 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.764A>C (p.Glu255Ala) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000844808] Chr11:108141638 [GRCh38]
Chr11:108012365 [GRCh37]
Chr11:11q22.3		 uncertain significance
NC_000011.10:g.108141701G>T single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000844810]   pathogenic
NM_000019.4(ACAT1):c.826+5G>T single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000844811] Chr11:108141705 [GRCh38]
Chr11:108012432 [GRCh37]
Chr11:11q22.3		 likely pathogenic
NM_000019.4(ACAT1):c.826+5_826+9del deletion Deficiency of acetyl-CoA acetyltransferase [RCV000844812] Chr11:108141705..108141709 [GRCh38]
Chr11:108012432..108012436 [GRCh37]
Chr11:11q22.3		 likely pathogenic
NM_000019.4(ACAT1):c.829A>C (p.Thr277Pro) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000844813] Chr11:108142439 [GRCh38]
Chr11:108013166 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.844A>C (p.Asn282His) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000844814] Chr11:108142454 [GRCh38]
Chr11:108013181 [GRCh37]
Chr11:11q22.3		 likely pathogenic
NM_000019.4(ACAT1):c.851G>A (p.Ser284Asn) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000844815] Chr11:108142461 [GRCh38]
Chr11:108013188 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.854C>T (p.Thr285Ile) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000844816] Chr11:108142464 [GRCh38]
Chr11:108013191 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.890C>A (p.Thr297Lys) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000844817] Chr11:108142500 [GRCh38]
Chr11:108013227 [GRCh37]
Chr11:11q22.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000019.4(ACAT1):c.901G>C (p.Ala301Pro) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000844819] Chr11:108142511 [GRCh38]
Chr11:108013238 [GRCh37]
Chr11:11q22.3		 likely pathogenic
NM_000019.4(ACAT1):c.940+1G>T single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000844820] Chr11:108142551 [GRCh38]
Chr11:108013278 [GRCh37]
Chr11:11q22.3		 pathogenic|likely pathogenic
NM_000019.4(ACAT1):c.941-9T>A single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000844821] Chr11:108143974 [GRCh38]
Chr11:108014701 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.947_949dup (p.Ala316dup) duplication Deficiency of acetyl-CoA acetyltransferase [RCV000844822] Chr11:108143986..108143987 [GRCh38]
Chr11:108014713..108014714 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.949G>A (p.Asp317Asn) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000844823] Chr11:108143991 [GRCh38]
Chr11:108014718 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.951C>T (p.Asp317=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000844824] Chr11:108143993 [GRCh38]
Chr11:108014720 [GRCh37]
Chr11:11q22.3		 pathogenic|likely pathogenic
NM_000019.4(ACAT1):c.968T>C (p.Ile323Thr) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000844825]|not specified [RCV002307633] Chr11:108144010 [GRCh38]
Chr11:108014737 [GRCh37]
Chr11:11q22.3		 likely pathogenic|uncertain significance
NC_000011.10:g.108146200A>C single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000844826]   pathogenic
NC_000011.10:g.108146201G>C single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000844827]   pathogenic
NM_000019.4(ACAT1):c.1006-1G>A single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000844828] Chr11:108146201 [GRCh38]
Chr11:108016928 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.1013_1016dup (p.Asp339fs) duplication Deficiency of acetyl-CoA acetyltransferase [RCV000844829] Chr11:108146207..108146208 [GRCh38]
Chr11:108016934..108016935 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.1016_1018dup (p.Asp339dup) duplication Deficiency of acetyl-CoA acetyltransferase [RCV000844830] Chr11:108146210..108146211 [GRCh38]
Chr11:108016937..108016938 [GRCh37]
Chr11:11q22.3		 likely pathogenic
NM_000019.4(ACAT1):c.1032dup (p.Glu345fs) duplication Deficiency of acetyl-CoA acetyltransferase [RCV000844831] Chr11:108146222..108146223 [GRCh38]
Chr11:108016949..108016950 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.1040T>C (p.Ile347Thr) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000844833] Chr11:108146236 [GRCh38]
Chr11:108016963 [GRCh37]
Chr11:11q22.3		 pathogenic|likely pathogenic
NM_000019.4(ACAT1):c.1059T>A (p.Asn353Lys) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000844834] Chr11:108146255 [GRCh38]
Chr11:108016982 [GRCh37]
Chr11:11q22.3		 likely pathogenic
NM_000019.4(ACAT1):c.1059T>G (p.Asn353Lys) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000844835] Chr11:108146255 [GRCh38]
Chr11:108016982 [GRCh37]
Chr11:11q22.3		 likely pathogenic
NM_000019.4(ACAT1):c.1061A>T (p.Glu354Val) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000844836] Chr11:108146257 [GRCh38]
Chr11:108016984 [GRCh37]
Chr11:11q22.3		 likely pathogenic
NM_000019.4(ACAT1):c.1124A>G (p.Asn375Ser) single nucleotide variant ACAT1-related condition [RCV003396461]|Deficiency of acetyl-CoA acetyltransferase [RCV000844837] Chr11:108146320 [GRCh38]
Chr11:108017047 [GRCh37]
Chr11:11q22.3		 pathogenic|likely pathogenic
NM_000019.4(ACAT1):c.1163G>A (p.Gly388Glu) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000844838] Chr11:108146359 [GRCh38]
Chr11:108017086 [GRCh37]
Chr11:11q22.3		 pathogenic
NC_000011.10:g.108146361T>C single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000844839]   pathogenic
NM_000019.4(ACAT1):c.1167G>A (p.Met389Ile) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000844840] Chr11:108147273 [GRCh38]
Chr11:108018000 [GRCh37]
Chr11:11q22.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_000019.4(ACAT1):c.1168T>C (p.Ser390Pro) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000844841] Chr11:108147274 [GRCh38]
Chr11:108018001 [GRCh37]
Chr11:11q22.3		 likely pathogenic
NM_000019.4(ACAT1):c.1189C>G (p.His397Asp) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000844842] Chr11:108147295 [GRCh38]
Chr11:108018022 [GRCh37]
Chr11:11q22.3		 pathogenic|likely pathogenic
NM_000019.4(ACAT1):c.1223_1226dup (p.Ala410fs) duplication Deficiency of acetyl-CoA acetyltransferase [RCV000844843] Chr11:108147328..108147329 [GRCh38]
Chr11:108018055..108018056 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.1241_1245delinsGT (p.Asn414_Gly415delinsSer) indel Deficiency of acetyl-CoA acetyltransferase [RCV000844844] Chr11:108147347..108147351 [GRCh38]
Chr11:108018074..108018078 [GRCh37]
Chr11:11q22.3		 likely pathogenic
NM_000019.4(ACAT1):c.120+374_731-68delinsTAA indel Deficiency of acetyl-CoA acetyltransferase [RCV000844845] Chr11:108132328..108141537 [GRCh38]
Chr11:108003055..108012264 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.3:c.(120+1_121-1)_(344+1_345-1)del deletion Deficiency of acetyl-CoA acetyltransferase [RCV000844846]   pathogenic
NM_000019.3:c.(72+1_73-1)_(344+1_345-1)del deletion Deficiency of acetyl-CoA acetyltransferase [RCV000844847]   pathogenic
NM_000019.3:c.(730+1_731-1)_(940+1_941-1)dup duplication Deficiency of acetyl-CoA acetyltransferase [RCV000844848]   pathogenic
NM_000019.3:c.(72+1_73-1)_(435+1_436-1)del deletion Deficiency of acetyl-CoA acetyltransferase [RCV000844849]   pathogenic
NM_000019.4(ACAT1):c.507A>T (p.Pro169=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000981387] Chr11:108138969 [GRCh38]
Chr11:108009696 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.483T>C (p.Tyr161=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000979548] Chr11:108138945 [GRCh38]
Chr11:108009672 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.64_72+10del deletion Deficiency of acetyl-CoA acetyltransferase [RCV001045131] Chr11:108121668..108121686 [GRCh38]
Chr11:107992395..107992413 [GRCh37]
Chr11:11q22.3		 pathogenic|likely pathogenic
GRCh37/hg19 11q22.3-23.2(chr11:103320065-114349787)x1 copy number loss not provided [RCV001006439] Chr11:103320065..114349787 [GRCh37]
Chr11:11q22.3-23.2		 pathogenic
NM_000019.4(ACAT1):c.140C>T (p.Ala47Val) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001231845] Chr11:108133839 [GRCh38]
Chr11:108004566 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.575A>G (p.His192Arg) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001196559]|not provided [RCV003393874] Chr11:108139037 [GRCh38]
Chr11:108009764 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.826+2T>G single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001196560] Chr11:108141702 [GRCh38]
Chr11:108012429 [GRCh37]
Chr11:11q22.3		 likely pathogenic
NM_000019.3(ACAT1):c.*365C>T single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001103447] Chr11:108147755 [GRCh38]
Chr11:108018482 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.3(ACAT1):c.*384A>C single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001103448] Chr11:108147774 [GRCh38]
Chr11:108018501 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.3(ACAT1):c.*668G>T single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001106509] Chr11:108148058 [GRCh38]
Chr11:108018785 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.721A>G (p.Thr241Ala) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001105287] Chr11:108140206 [GRCh38]
Chr11:108010933 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.229del (p.Glu77fs) deletion Deficiency of acetyl-CoA acetyltransferase [RCV001212068] Chr11:108133928 [GRCh38]
Chr11:108004655 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.941-75A>C single nucleotide variant not provided [RCV001659461] Chr11:108143908 [GRCh38]
Chr11:108014635 [GRCh37]
Chr11:11q22.3		 benign
NM_000019.4(ACAT1):c.940+84C>T single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001533597]|not provided [RCV001676031] Chr11:108142634 [GRCh38]
Chr11:108013361 [GRCh37]
Chr11:11q22.3		 benign
NM_000019.4(ACAT1):c.73-189T>C single nucleotide variant not provided [RCV001637157] Chr11:108131718 [GRCh38]
Chr11:108002445 [GRCh37]
Chr11:11q22.3		 benign
NM_000019.4(ACAT1):c.827-158T>A single nucleotide variant not provided [RCV001616252] Chr11:108142279 [GRCh38]
Chr11:108013006 [GRCh37]
Chr11:11q22.3		 benign
NM_000019.4(ACAT1):c.731-215_731-210dup duplication not provided [RCV001713849] Chr11:108141369..108141370 [GRCh38]
Chr11:108012096..108012097 [GRCh37]
Chr11:11q22.3		 benign
NM_000019.4(ACAT1):c.918T>A (p.Val306=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001392701] Chr11:108142528 [GRCh38]
Chr11:108013255 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.239-8T>A single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000907288] Chr11:108134213 [GRCh38]
Chr11:108004940 [GRCh37]
Chr11:11q22.3		 likely benign|conflicting interpretations of pathogenicity
NM_000019.4(ACAT1):c.480A>G (p.Pro160=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000973906] Chr11:108138942 [GRCh38]
Chr11:108009669 [GRCh37]
Chr11:11q22.3		 benign
NM_000019.4(ACAT1):c.622C>A (p.Arg208=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000931857] Chr11:108140107 [GRCh38]
Chr11:108010834 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.772C>T (p.Arg258Cys) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV000910746]|not provided [RCV003392689] Chr11:108141646 [GRCh38]
Chr11:108012373 [GRCh37]
Chr11:11q22.3		 likely benign|conflicting interpretations of pathogenicity
NM_000019.4(ACAT1):c.816G>T (p.Gln272His) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001239124]|Inborn genetic diseases [RCV002567928] Chr11:108141690 [GRCh38]
Chr11:108012417 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.-5C>T single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001108546] Chr11:108121602 [GRCh38]
Chr11:107992329 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.1191T>C (p.His397=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001108623] Chr11:108147297 [GRCh38]
Chr11:108018024 [GRCh37]
Chr11:11q22.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_000019.4(ACAT1):c.34G>A (p.Ala12Thr) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001243860]|Inborn genetic diseases [RCV002564076] Chr11:108121640 [GRCh38]
Chr11:107992367 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.410_418delinsT (p.Ser137fs) indel Deficiency of acetyl-CoA acetyltransferase [RCV000985044] Chr11:108135217..108135225 [GRCh38]
Chr11:108005944..108005952 [GRCh37]
Chr11:11q22.3		 likely pathogenic
NM_000019.4(ACAT1):c.845A>G (p.Asn282Ser) single nucleotide variant Inborn genetic diseases [RCV003253583] Chr11:108142455 [GRCh38]
Chr11:108013182 [GRCh37]
Chr11:11q22.3		 uncertain significance
GRCh37/hg19 11q22.3-23.3(chr11:105699599-114524876)x1 copy number loss not provided [RCV001006445] Chr11:105699599..114524876 [GRCh37]
Chr11:11q22.3-23.3		 pathogenic
NM_000019.4(ACAT1):c.1006-146del deletion not provided [RCV001608196] Chr11:108146045 [GRCh38]
Chr11:108016772 [GRCh37]
Chr11:11q22.3		 benign
NM_000019.4(ACAT1):c.941-14dup duplication not provided [RCV001638998] Chr11:108143957..108143958 [GRCh38]
Chr11:108014684..108014685 [GRCh37]
Chr11:11q22.3		 benign
NM_000019.4(ACAT1):c.580-253_580-243del deletion not provided [RCV001673287] Chr11:108139812..108139822 [GRCh38]
Chr11:108010539..108010549 [GRCh37]
Chr11:11q22.3		 benign
NM_000019.4(ACAT1):c.435+300dup duplication not provided [RCV001637765] Chr11:108135530..108135531 [GRCh38]
Chr11:108006257..108006258 [GRCh37]
Chr11:11q22.3		 benign
NM_000019.4(ACAT1):c.940+94C>T single nucleotide variant not provided [RCV001613873] Chr11:108142644 [GRCh38]
Chr11:108013371 [GRCh37]
Chr11:11q22.3		 benign
NM_000019.4(ACAT1):c.435+213T>G single nucleotide variant not provided [RCV001656955] Chr11:108135455 [GRCh38]
Chr11:108006182 [GRCh37]
Chr11:11q22.3		 benign
NM_000019.4(ACAT1):c.378T>C (p.Cys126=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001103374] Chr11:108135185 [GRCh38]
Chr11:108005912 [GRCh37]
Chr11:11q22.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_000019.3(ACAT1):c.*397C>T single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001105368] Chr11:108147787 [GRCh38]
Chr11:108018514 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.3(ACAT1):c.*574G>C single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001105369] Chr11:108147964 [GRCh38]
Chr11:108018691 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.642T>G (p.Tyr214Ter) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001071621] Chr11:108140127 [GRCh38]
Chr11:108010854 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.334+172C>G single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001533596]|not provided [RCV001673139] Chr11:108134488 [GRCh38]
Chr11:108005215 [GRCh37]
Chr11:11q22.3		 benign
NC_000011.10:g.(?_108121597)_(108147400_?)del deletion Deficiency of acetyl-CoA acetyltransferase [RCV001033421] Chr11:107992324..108018127 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.252del (p.Glu85fs) deletion Deficiency of acetyl-CoA acetyltransferase [RCV001647337] Chr11:108134233 [GRCh38]
Chr11:108004960 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.827-71A>G single nucleotide variant not provided [RCV001693558] Chr11:108142366 [GRCh38]
Chr11:108013093 [GRCh37]
Chr11:11q22.3		 benign
NM_000019.4(ACAT1):c.579+159G>A single nucleotide variant not provided [RCV001616422] Chr11:108139200 [GRCh38]
Chr11:108009927 [GRCh37]
Chr11:11q22.3		 benign
NM_000019.4(ACAT1):c.1005+184dup duplication not provided [RCV001679461] Chr11:108144218..108144219 [GRCh38]
Chr11:108014945..108014946 [GRCh37]
Chr11:11q22.3		 benign
NM_000019.4(ACAT1):c.238+23G>A single nucleotide variant not provided [RCV001672193] Chr11:108133960 [GRCh38]
Chr11:108004687 [GRCh37]
Chr11:11q22.3		 benign
NC_000011.10:g.(?_108121587)_(108365528_?)dup duplication Ataxia-telangiectasia syndrome [RCV001031253] Chr11:107992314..108236255 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.941-14del deletion not provided [RCV001689448] Chr11:108143958 [GRCh38]
Chr11:108014685 [GRCh37]
Chr11:11q22.3		 benign
NM_000019.4(ACAT1):c.1028A>G (p.Lys343Arg) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001247395]|Inborn genetic diseases [RCV002568679] Chr11:108146224 [GRCh38]
Chr11:108016951 [GRCh37]
Chr11:11q22.3		 likely benign|uncertain significance
NM_000019.4(ACAT1):c.1253_1255dup (p.Gly418dup) duplication Deficiency of acetyl-CoA acetyltransferase [RCV001057802] Chr11:108147357..108147358 [GRCh38]
Chr11:108018084..108018085 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.1181_1211dup (p.Gln404fs) duplication Deficiency of acetyl-CoA acetyltransferase [RCV001058332] Chr11:108147285..108147286 [GRCh38]
Chr11:108018012..108018013 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.1049G>A (p.Trp350Ter) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001064187] Chr11:108146245 [GRCh38]
Chr11:108016972 [GRCh37]
Chr11:11q22.3		 pathogenic|likely pathogenic
NM_000019.4(ACAT1):c.941-13T>C single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001106417] Chr11:108143970 [GRCh38]
Chr11:108014697 [GRCh37]
Chr11:11q22.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_000019.4(ACAT1):c.155T>C (p.Ile52Thr) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001103372] Chr11:108133854 [GRCh38]
Chr11:108004581 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.1279C>A (p.Leu427Met) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001108624]|Inborn genetic diseases [RCV003160638] Chr11:108147385 [GRCh38]
Chr11:108018112 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.239-7A>G single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001103373] Chr11:108134214 [GRCh38]
Chr11:108004941 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.754G>A (p.Glu252Lys) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001105288] Chr11:108141628 [GRCh38]
Chr11:108012355 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.858G>A (p.Leu286=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001105289] Chr11:108142468 [GRCh38]
Chr11:108013195 [GRCh37]
Chr11:11q22.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_000019.4(ACAT1):c.5C>T (p.Ala2Val) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001337631] Chr11:108121611 [GRCh38]
Chr11:107992338 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.642T>C (p.Tyr214=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001394993] Chr11:108140127 [GRCh38]
Chr11:108010854 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.637G>A (p.Ala213Thr) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001278343] Chr11:108140122 [GRCh38]
Chr11:108010849 [GRCh37]
Chr11:11q22.3		 uncertain significance
NC_000011.9:g.(?_94153285)_(111965700_?)del deletion Ataxia-telangiectasia syndrome [RCV001389105] Chr11:94153285..111965700 [GRCh37]
Chr11:11q21-23.1		 pathogenic
NM_000019.4(ACAT1):c.709C>A (p.Pro237Thr) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001350132] Chr11:108140194 [GRCh38]
Chr11:108010921 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.1003A>G (p.Met335Val) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001343624] Chr11:108144045 [GRCh38]
Chr11:108014772 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.418C>T (p.Leu140Phe) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001299299] Chr11:108135225 [GRCh38]
Chr11:108005952 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.71A>C (p.Gln24Pro) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001278340] Chr11:108121677 [GRCh38]
Chr11:107992404 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.891G>A (p.Thr297=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001278344] Chr11:108142501 [GRCh38]
Chr11:108013228 [GRCh37]
Chr11:11q22.3		 likely benign|uncertain significance
NM_000019.4(ACAT1):c.1200T>C (p.His400=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001278347] Chr11:108147306 [GRCh38]
Chr11:108018033 [GRCh37]
Chr11:11q22.3		 likely benign|uncertain significance
NM_000019.4(ACAT1):c.636C>T (p.Asp212=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001395483] Chr11:108140121 [GRCh38]
Chr11:108010848 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.666T>C (p.Ser222=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001395237] Chr11:108140151 [GRCh38]
Chr11:108010878 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.354A>G (p.Pro118=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001484081] Chr11:108135161 [GRCh38]
Chr11:108005888 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.996T>C (p.Ala332=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001461065] Chr11:108144038 [GRCh38]
Chr11:108014765 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.330T>C (p.Gly110=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001470151] Chr11:108134312 [GRCh38]
Chr11:108005039 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.546C>T (p.Asp182=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001441274] Chr11:108139008 [GRCh38]
Chr11:108009735 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.325T>C (p.Leu109=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001482813] Chr11:108134307 [GRCh38]
Chr11:108005034 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.126G>T (p.Val42=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001458512] Chr11:108133825 [GRCh38]
Chr11:108004552 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.571del (p.Ile191fs) deletion Deficiency of acetyl-CoA acetyltransferase [RCV001387582] Chr11:108139030 [GRCh38]
Chr11:108009757 [GRCh37]
Chr11:11q22.3		 pathogenic|likely pathogenic
NM_000019.4(ACAT1):c.267A>G (p.Ala89=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001441605] Chr11:108134249 [GRCh38]
Chr11:108004976 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.941-9T>G single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001405297] Chr11:108143974 [GRCh38]
Chr11:108014701 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1099T>C (p.Leu367=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001402992] Chr11:108146295 [GRCh38]
Chr11:108017022 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1147C>T (p.Leu383=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001489005] Chr11:108146343 [GRCh38]
Chr11:108017070 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.238+8G>T single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001403869] Chr11:108133945 [GRCh38]
Chr11:108004672 [GRCh37]
Chr11:11q22.3		 likely benign
NC_000011.9:g.(?_107992324)_(107992415_?)del deletion Deficiency of acetyl-CoA acetyltransferase [RCV001391033] Chr11:107992324..107992415 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.864T>C (p.Asp288=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001463571] Chr11:108142474 [GRCh38]
Chr11:108013201 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.810T>C (p.Val270=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001471211] Chr11:108141684 [GRCh38]
Chr11:108012411 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.436-8C>T single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001456688] Chr11:108138890 [GRCh38]
Chr11:108009617 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.846T>C (p.Asn282=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001497867] Chr11:108142456 [GRCh38]
Chr11:108013183 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.192C>T (p.Ala64=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001445971] Chr11:108133891 [GRCh38]
Chr11:108004618 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.22C>T (p.Leu8=) single nucleotide variant ACAT1-related condition [RCV003892175]|Deficiency of acetyl-CoA acetyltransferase [RCV001446143] Chr11:108121628 [GRCh38]
Chr11:107992355 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.777T>C (p.Val259=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001443838] Chr11:108141651 [GRCh38]
Chr11:108012378 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.941-37dup duplication not provided [RCV001540380] Chr11:108143935..108143936 [GRCh38]
Chr11:108014662..108014663 [GRCh37]
Chr11:11q22.3		 benign
NM_000019.4(ACAT1):c.438T>C (p.Asp146=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001393242] Chr11:108138900 [GRCh38]
Chr11:108009627 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.759T>C (p.Asp253=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001428025] Chr11:108141633 [GRCh38]
Chr11:108012360 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1128C>T (p.Ile376=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001425187] Chr11:108146324 [GRCh38]
Chr11:108017051 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1163+1G>A single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001385168] Chr11:108146360 [GRCh38]
Chr11:108017087 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.1100T>A (p.Leu367Ter) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001390020] Chr11:108146296 [GRCh38]
Chr11:108017023 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.867A>C (p.Gly289=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001403099] Chr11:108142477 [GRCh38]
Chr11:108013204 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.749del (p.Val250fs) deletion Deficiency of acetyl-CoA acetyltransferase [RCV001381648] Chr11:108141623 [GRCh38]
Chr11:108012350 [GRCh37]
Chr11:11q22.3		 pathogenic|likely pathogenic
NM_000019.4(ACAT1):c.502A>G (p.Thr168Ala) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001410479] Chr11:108138964 [GRCh38]
Chr11:108009691 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.238+134A>C single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001533595]|not provided [RCV001647376] Chr11:108134071 [GRCh38]
Chr11:108004798 [GRCh37]
Chr11:11q22.3		 benign
NM_000019.4(ACAT1):c.1005+25C>T single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001533598]|not provided [RCV001685445] Chr11:108144072 [GRCh38]
Chr11:108014799 [GRCh37]
Chr11:11q22.3		 benign
NM_000019.4(ACAT1):c.261dup (p.Glu88fs) duplication Deficiency of acetyl-CoA acetyltransferase [RCV001388338] Chr11:108134240..108134241 [GRCh38]
Chr11:108004967..108004968 [GRCh37]
Chr11:11q22.3		 pathogenic|likely pathogenic
NM_000019.4(ACAT1):c.225C>T (p.Ala75=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001427130] Chr11:108133924 [GRCh38]
Chr11:108004651 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.627T>C (p.Asn209=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001445176] Chr11:108140112 [GRCh38]
Chr11:108010839 [GRCh37]
Chr11:11q22.3		 likely benign
NC_000011.9:g.(?_108009615)_(108009778_?)del deletion Deficiency of acetyl-CoA acetyltransferase [RCV001377195] Chr11:108009615..108009778 [GRCh37]
Chr11:11q22.3		 likely pathogenic
NM_000019.4(ACAT1):c.239-6dup duplication Deficiency of acetyl-CoA acetyltransferase [RCV001427228] Chr11:108134213..108134214 [GRCh38]
Chr11:108004940..108004941 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1101G>A (p.Leu367=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001440536] Chr11:108146297 [GRCh38]
Chr11:108017024 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1005+175A>C single nucleotide variant not provided [RCV001535111] Chr11:108144222 [GRCh38]
Chr11:108014949 [GRCh37]
Chr11:11q22.3		 benign
NM_000019.4(ACAT1):c.36C>G (p.Ala12=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001409374] Chr11:108121642 [GRCh38]
Chr11:107992369 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.138T>C (p.Ser46=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001472639] Chr11:108133837 [GRCh38]
Chr11:108004564 [GRCh37]
Chr11:11q22.3		 likely benign|conflicting interpretations of pathogenicity
NM_000019.4(ACAT1):c.267A>C (p.Ala89=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001461353] Chr11:108134249 [GRCh38]
Chr11:108004976 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1209G>A (p.Lys403=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001450835] Chr11:108147315 [GRCh38]
Chr11:108018042 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.291A>C (p.Gly97=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001490309] Chr11:108134273 [GRCh38]
Chr11:108005000 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.684T>C (p.Ala228=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001469113] Chr11:108140169 [GRCh38]
Chr11:108010896 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.513T>C (p.Gly171=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001496027] Chr11:108138975 [GRCh38]
Chr11:108009702 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.335-328C>G single nucleotide variant not provided [RCV001667100] Chr11:108134814 [GRCh38]
Chr11:108005541 [GRCh37]
Chr11:11q22.3		 benign
NM_001386681.1(ACAT1):c.-199+4314_-199+4315del deletion not provided [RCV001684666] Chr11:108121201..108121202 [GRCh38]
Chr11:107991928..107991929 [GRCh37]
Chr11:11q22.3		 benign
NM_000019.4(ACAT1):c.239-8del deletion Deficiency of acetyl-CoA acetyltransferase [RCV002503169]|not provided [RCV001717032] Chr11:108134201 [GRCh38]
Chr11:108004928 [GRCh37]
Chr11:11q22.3		 benign
NM_000019.4(ACAT1):c.1117A>T (p.Lys373Ter) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001647338] Chr11:108146313 [GRCh38]
Chr11:108017040 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.36C>T (p.Ala12=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001477178] Chr11:108121642 [GRCh38]
Chr11:107992369 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.177T>G (p.Leu59=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001460277] Chr11:108133876 [GRCh38]
Chr11:108004603 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.738A>G (p.Pro246=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001488209] Chr11:108141612 [GRCh38]
Chr11:108012339 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.264A>G (p.Glu88=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001478272] Chr11:108134246 [GRCh38]
Chr11:108004973 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.731-255G>A single nucleotide variant not provided [RCV001654250] Chr11:108141350 [GRCh38]
Chr11:108012077 [GRCh37]
Chr11:11q22.3		 benign
NM_000019.4(ACAT1):c.375T>C (p.Val125=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001453883] Chr11:108135182 [GRCh38]
Chr11:108005909 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.312A>G (p.Thr104=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001502883] Chr11:108134294 [GRCh38]
Chr11:108005021 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1190A>G (p.His397Arg) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001378187] Chr11:108147296 [GRCh38]
Chr11:108018023 [GRCh37]
Chr11:11q22.3		 likely pathogenic
NM_000019.4(ACAT1):c.1281G>A (p.Leu427=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001451466] Chr11:108147387 [GRCh38]
Chr11:108018114 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1026G>A (p.Leu342=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001491590] Chr11:108146222 [GRCh38]
Chr11:108016949 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1173dup (p.Ala392fs) duplication Deficiency of acetyl-CoA acetyltransferase [RCV001381721] Chr11:108147278..108147279 [GRCh38]
Chr11:108018005..108018006 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.831A>G (p.Thr277=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001466022] Chr11:108142441 [GRCh38]
Chr11:108013168 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.84T>C (p.Tyr28=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001454717] Chr11:108131918 [GRCh38]
Chr11:108002645 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.42C>T (p.Ser14=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001425704] Chr11:108121648 [GRCh38]
Chr11:107992375 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.731-6T>C single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001459239] Chr11:108141599 [GRCh38]
Chr11:108012326 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.360C>T (p.Thr120=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001402041] Chr11:108135167 [GRCh38]
Chr11:108005894 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.580-5dup duplication Deficiency of acetyl-CoA acetyltransferase [RCV001407210] Chr11:108140059..108140060 [GRCh38]
Chr11:108010786..108010787 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.238+17C>T single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001522069] Chr11:108133954 [GRCh38]
Chr11:108004681 [GRCh37]
Chr11:11q22.3		 benign|likely benign
NC_000011.9:g.(?_108004537)_(108005053_?)dup duplication Deficiency of acetyl-CoA acetyltransferase [RCV001377196] Chr11:108004537..108005053 [GRCh37]
Chr11:11q22.3		 likely pathogenic
NM_000019.4(ACAT1):c.233del (p.Lys78fs) deletion Deficiency of acetyl-CoA acetyltransferase [RCV001385938] Chr11:108133929 [GRCh38]
Chr11:108004656 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.334+8G>A single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001494450] Chr11:108134324 [GRCh38]
Chr11:108005051 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1131T>C (p.Asn377=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001499572] Chr11:108146327 [GRCh38]
Chr11:108017054 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.72+10G>T single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001450438] Chr11:108121688 [GRCh38]
Chr11:107992415 [GRCh37]
Chr11:11q22.3		 likely benign
NC_000011.9:g.104288964_134937416dup duplication Distal trisomy 11q [RCV001250234] Chr11:104288964..134937416 [GRCh37]
Chr11:11q22.3-25		 pathogenic
NM_000019.4(ACAT1):c.253G>T (p.Glu85Ter) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002238660] Chr11:108134235 [GRCh38]
Chr11:108004962 [GRCh37]
Chr11:11q22.3		 likely pathogenic
NC_000011.9:g.(?_107992257)_(108018896_?)dup duplication not specified [RCV002238676] Chr11:107992257..108018896 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.238+2T>A single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001805743] Chr11:108133939 [GRCh38]
Chr11:108004666 [GRCh37]
Chr11:11q22.3		 pathogenic|likely pathogenic
NM_000019.4(ACAT1):c.731-2A>G single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001806313] Chr11:108141603 [GRCh38]
Chr11:108012330 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.902C>T (p.Ala301Val) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001915365] Chr11:108142512 [GRCh38]
Chr11:108013239 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.121-2A>G single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002025782] Chr11:108133818 [GRCh38]
Chr11:108004545 [GRCh37]
Chr11:11q22.3		 likely pathogenic
NM_000019.4(ACAT1):c.846dup (p.Ala283fs) duplication Deficiency of acetyl-CoA acetyltransferase [RCV001895878] Chr11:108142455..108142456 [GRCh38]
Chr11:108013182..108013183 [GRCh37]
Chr11:11q22.3		 pathogenic
GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1 copy number loss not provided [RCV001832892] Chr11:85422071..118022671 [GRCh37]
Chr11:11q14.1-23.3		 uncertain significance
NM_000019.4(ACAT1):c.43C>T (p.Arg15Cys) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001970355] Chr11:108121649 [GRCh38]
Chr11:107992376 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.824del (p.Asn275fs) deletion Deficiency of acetyl-CoA acetyltransferase [RCV001913414] Chr11:108141695 [GRCh38]
Chr11:108012422 [GRCh37]
Chr11:11q22.3		 pathogenic|likely pathogenic
NM_000019.4(ACAT1):c.776T>C (p.Val259Ala) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001890999] Chr11:108141650 [GRCh38]
Chr11:108012377 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.940+2dup duplication Deficiency of acetyl-CoA acetyltransferase [RCV002042397] Chr11:108142551..108142552 [GRCh38]
Chr11:108013278..108013279 [GRCh37]
Chr11:11q22.3		 likely pathogenic
NC_000011.9:g.(?_107992334)_(108464263_?)dup duplication Ataxia-telangiectasia syndrome [RCV001872607]|Deficiency of acetyl-CoA acetyltransferase [RCV003120730] Chr11:107992334..108464263 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.288A>G (p.Gln96=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001965435] Chr11:108134270 [GRCh38]
Chr11:108004997 [GRCh37]
Chr11:11q22.3		 likely benign|uncertain significance
NM_000019.4(ACAT1):c.333A>G (p.Ala111=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001893279] Chr11:108134315 [GRCh38]
Chr11:108005042 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.1240A>G (p.Asn414Asp) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002019840] Chr11:108147346 [GRCh38]
Chr11:108018073 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.1167G>T (p.Met389Ile) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001963701] Chr11:108147273 [GRCh38]
Chr11:108018000 [GRCh37]
Chr11:11q22.3		 likely pathogenic
NM_000019.4(ACAT1):c.378_379del (p.Ala127fs) microsatellite Deficiency of acetyl-CoA acetyltransferase [RCV001922349] Chr11:108135183..108135184 [GRCh38]
Chr11:108005910..108005911 [GRCh37]
Chr11:11q22.3		 pathogenic
NC_000011.9:g.(?_108004537)_(108005053_?)del deletion Deficiency of acetyl-CoA acetyltransferase [RCV001963058] Chr11:108004537..108005053 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.422T>C (p.Met141Thr) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001887002] Chr11:108135229 [GRCh38]
Chr11:108005956 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.733C>T (p.Gln245Ter) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001959024] Chr11:108141607 [GRCh38]
Chr11:108012334 [GRCh37]
Chr11:11q22.3		 pathogenic|likely pathogenic
NM_000019.4(ACAT1):c.435+4A>G single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001933346] Chr11:108135246 [GRCh38]
Chr11:108005973 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.537del (p.Ile179fs) deletion Deficiency of acetyl-CoA acetyltransferase [RCV001878544] Chr11:108138998 [GRCh38]
Chr11:108009725 [GRCh37]
Chr11:11q22.3		 pathogenic|likely pathogenic
NM_000019.4(ACAT1):c.316C>T (p.Gln106Ter) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001900561] Chr11:108134298 [GRCh38]
Chr11:108005025 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.1189C>A (p.His397Asn) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001931272] Chr11:108147295 [GRCh38]
Chr11:108018022 [GRCh37]
Chr11:11q22.3		 pathogenic
NC_000011.9:g.(?_108005849)_(108005989_?)del deletion Deficiency of acetyl-CoA acetyltransferase [RCV001932603] Chr11:108005849..108005989 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.655_656insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGCTATTAATTCTT (p.Tyr219delinsPhePhePhePhePhePhePheXaaXaaXaaXaaTrpSerArgSerProAspLeuMetIleHisProProArgProProLysValLeuGlyLeuGlnAlaTer) insertion Deficiency of acetyl-CoA acetyltransferase [RCV001994526] Chr11:108140127..108140128 [GRCh38]
Chr11:108010854..108010855 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.491_495del (p.Asn164fs) deletion Deficiency of acetyl-CoA acetyltransferase [RCV001953420] Chr11:108138951..108138955 [GRCh38]
Chr11:108009678..108009682 [GRCh37]
Chr11:11q22.3		 pathogenic|likely pathogenic
NM_000019.4(ACAT1):c.1128_1131dup (p.Gly378fs) duplication Deficiency of acetyl-CoA acetyltransferase [RCV001957791] Chr11:108146321..108146322 [GRCh38]
Chr11:108017048..108017049 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.838G>A (p.Ala280Thr) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001974488] Chr11:108142448 [GRCh38]
Chr11:108013175 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.914A>G (p.Asn305Ser) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001903919] Chr11:108142524 [GRCh38]
Chr11:108013251 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.826+2T>C single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002014601] Chr11:108141702 [GRCh38]
Chr11:108012429 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.120+1G>C single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002017830] Chr11:108131955 [GRCh38]
Chr11:108002682 [GRCh37]
Chr11:11q22.3		 likely pathogenic
NM_000019.4(ACAT1):c.763G>T (p.Glu255Ter) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001939398] Chr11:108141637 [GRCh38]
Chr11:108012364 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.1114C>T (p.Gln372Ter) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001936720] Chr11:108146310 [GRCh38]
Chr11:108017037 [GRCh37]
Chr11:11q22.3		 pathogenic|likely pathogenic
NC_000011.9:g.(?_108010782)_(108012437_?)del deletion Deficiency of acetyl-CoA acetyltransferase [RCV001958946] Chr11:108010782..108012437 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.30del (p.Ser10fs) deletion Deficiency of acetyl-CoA acetyltransferase [RCV001935890] Chr11:108121636 [GRCh38]
Chr11:107992363 [GRCh37]
Chr11:11q22.3		 pathogenic|likely pathogenic
NM_000019.4(ACAT1):c.730+12G>A single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001956548] Chr11:108140227 [GRCh38]
Chr11:108010954 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.670G>C (p.Ala224Pro) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001904962] Chr11:108140155 [GRCh38]
Chr11:108010882 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.959T>C (p.Val320Ala) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001982142] Chr11:108144001 [GRCh38]
Chr11:108014728 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.120+1G>T single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001998899] Chr11:108131955 [GRCh38]
Chr11:108002682 [GRCh37]
Chr11:11q22.3		 likely pathogenic
NM_000019.4(ACAT1):c.210T>G (p.Ile70Met) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001925966]|Inborn genetic diseases [RCV003264251] Chr11:108133909 [GRCh38]
Chr11:108004636 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.787A>T (p.Lys263Ter) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001960646] Chr11:108141661 [GRCh38]
Chr11:108012388 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.134dup (p.Ser46fs) duplication Deficiency of acetyl-CoA acetyltransferase [RCV001953780] Chr11:108133832..108133833 [GRCh38]
Chr11:108004559..108004560 [GRCh37]
Chr11:11q22.3		 pathogenic|likely pathogenic
NM_000019.4(ACAT1):c.1005+19G>A single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001994627] Chr11:108144066 [GRCh38]
Chr11:108014793 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.579+2T>A single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV001991912] Chr11:108139043 [GRCh38]
Chr11:108009770 [GRCh37]
Chr11:11q22.3		 likely pathogenic
NM_000019.4(ACAT1):c.1005+1G>A single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002030148] Chr11:108144048 [GRCh38]
Chr11:108014775 [GRCh37]
Chr11:11q22.3		 likely pathogenic
NM_000019.4(ACAT1):c.256G>T (p.Val86Leu) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002028612] Chr11:108134238 [GRCh38]
Chr11:108004965 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.1224T>C (p.Gly408=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002104865] Chr11:108147330 [GRCh38]
Chr11:108018057 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.348T>C (p.Ser116=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002092029] Chr11:108135155 [GRCh38]
Chr11:108005882 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.915T>C (p.Asn305=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002145657] Chr11:108142525 [GRCh38]
Chr11:108013252 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1239C>T (p.Cys413=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002191211] Chr11:108147345 [GRCh38]
Chr11:108018072 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.72+13C>T single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002208913] Chr11:108121691 [GRCh38]
Chr11:107992418 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.48C>T (p.Ser16=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002074997] Chr11:108121654 [GRCh38]
Chr11:107992381 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.39C>T (p.Arg13=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002075930] Chr11:108121645 [GRCh38]
Chr11:107992372 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.45C>T (p.Arg15=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002129340] Chr11:108121651 [GRCh38]
Chr11:107992378 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.607A>C (p.Lys203Gln) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002145989]|not provided [RCV003222396] Chr11:108140092 [GRCh38]
Chr11:108010819 [GRCh37]
Chr11:11q22.3		 likely benign|uncertain significance
NM_000019.4(ACAT1):c.807A>G (p.Thr269=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002189723] Chr11:108141681 [GRCh38]
Chr11:108012408 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.699T>C (p.Asn233=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002209328] Chr11:108140184 [GRCh38]
Chr11:108010911 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.550C>T (p.Leu184=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002169686] Chr11:108139012 [GRCh38]
Chr11:108009739 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.57C>T (p.Leu19=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002109902] Chr11:108121663 [GRCh38]
Chr11:107992390 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.105A>G (p.Ser35=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002215348] Chr11:108131939 [GRCh38]
Chr11:108002666 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.579+11T>C single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002106274] Chr11:108139052 [GRCh38]
Chr11:108009779 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.774T>G (p.Arg258=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002153559] Chr11:108141648 [GRCh38]
Chr11:108012375 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1164-14T>C single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002167292] Chr11:108147256 [GRCh38]
Chr11:108017983 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.239-9_239-8del deletion ACAT1-related condition [RCV003916363]|Deficiency of acetyl-CoA acetyltransferase [RCV002193822] Chr11:108134201..108134202 [GRCh38]
Chr11:108004928..108004929 [GRCh37]
Chr11:11q22.3		 benign|likely benign
NM_000019.4(ACAT1):c.941-15C>T single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002146329] Chr11:108143968 [GRCh38]
Chr11:108014695 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.941-16C>G single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002078589] Chr11:108143967 [GRCh38]
Chr11:108014694 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1134A>G (p.Gly378=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002091715] Chr11:108146330 [GRCh38]
Chr11:108017057 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.129C>T (p.Val43=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002085024] Chr11:108133828 [GRCh38]
Chr11:108004555 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1006-17C>G single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002212412] Chr11:108146185 [GRCh38]
Chr11:108016912 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1163+15_1163+17del microsatellite Deficiency of acetyl-CoA acetyltransferase [RCV002080838] Chr11:108146369..108146371 [GRCh38]
Chr11:108017096..108017098 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.174C>T (p.Ser58=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002194307] Chr11:108133873 [GRCh38]
Chr11:108004600 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1044A>C (p.Ala348=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002077767] Chr11:108146240 [GRCh38]
Chr11:108016967 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.399C>T (p.Ile133=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002150383] Chr11:108135206 [GRCh38]
Chr11:108005933 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.903G>T (p.Ala301=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002092910] Chr11:108142513 [GRCh38]
Chr11:108013240 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.57C>A (p.Leu19=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002194599] Chr11:108121663 [GRCh38]
Chr11:107992390 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1164-15C>T single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002151960] Chr11:108147255 [GRCh38]
Chr11:108017982 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.73-16_73-13del deletion Deficiency of acetyl-CoA acetyltransferase [RCV002113706] Chr11:108131888..108131891 [GRCh38]
Chr11:108002615..108002618 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.477T>G (p.Val159=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002116823] Chr11:108138939 [GRCh38]
Chr11:108009666 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1233T>C (p.Ser411=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002096425] Chr11:108147339 [GRCh38]
Chr11:108018066 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.730+8T>G single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002115085] Chr11:108140223 [GRCh38]
Chr11:108010950 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.51C>G (p.Pro17=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002099666] Chr11:108121657 [GRCh38]
Chr11:107992384 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1059T>C (p.Asn353=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002139495] Chr11:108146255 [GRCh38]
Chr11:108016982 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.732T>A (p.Gly244=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002157488] Chr11:108141606 [GRCh38]
Chr11:108012333 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.73-20_73-18del deletion Deficiency of acetyl-CoA acetyltransferase [RCV002122305] Chr11:108131885..108131887 [GRCh38]
Chr11:108002612..108002614 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.827-12T>G single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002156912] Chr11:108142425 [GRCh38]
Chr11:108013152 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.681A>G (p.Glu227=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002184460] Chr11:108140166 [GRCh38]
Chr11:108010893 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.492C>T (p.Asn164=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002181297] Chr11:108138954 [GRCh38]
Chr11:108009681 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.180C>G (p.Ser60=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002198721] Chr11:108133879 [GRCh38]
Chr11:108004606 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.613A>C (p.Asn205His) single nucleotide variant not specified [RCV002222986] Chr11:108140098 [GRCh38]
Chr11:108010825 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.940+16_940+20del deletion Deficiency of acetyl-CoA acetyltransferase [RCV002176798] Chr11:108142566..108142570 [GRCh38]
Chr11:108013293..108013297 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.113C>T (p.Thr38Ile) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002201667] Chr11:108131947 [GRCh38]
Chr11:108002674 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.984T>A (p.Ala328=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002202947] Chr11:108144026 [GRCh38]
Chr11:108014753 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.633G>A (p.Gln211=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002221076] Chr11:108140118 [GRCh38]
Chr11:108010845 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.342T>A (p.Pro114=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002081818] Chr11:108135149 [GRCh38]
Chr11:108005876 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1020G>A (p.Val340=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002138306] Chr11:108146216 [GRCh38]
Chr11:108016943 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1263C>T (p.Ala421=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002183915] Chr11:108147369 [GRCh38]
Chr11:108018096 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1279C>T (p.Leu427=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002144074] Chr11:108147385 [GRCh38]
Chr11:108018112 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.27C>T (p.Arg9=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002202359] Chr11:108121633 [GRCh38]
Chr11:107992360 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.14C>T (p.Ala5Val) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003110215] Chr11:108121620 [GRCh38]
Chr11:107992347 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.721dup (p.Thr241fs) duplication Deficiency of acetyl-CoA acetyltransferase [RCV003112223] Chr11:108140205..108140206 [GRCh38]
Chr11:108010932..108010933 [GRCh37]
Chr11:11q22.3		 pathogenic
NC_000011.9:g.(?_108016909)_(108017106_?)del deletion Deficiency of acetyl-CoA acetyltransferase [RCV003119083] Chr11:108016909..108017106 [GRCh37]
Chr11:11q22.3		 pathogenic
NC_000011.9:g.(?_108009615)_(108018127_?)del deletion Deficiency of acetyl-CoA acetyltransferase [RCV003119084] Chr11:108009615..108018127 [GRCh37]
Chr11:11q22.3		 pathogenic
NC_000011.9:g.(?_108006357)_(108009701_?)del deletion Deficiency of acetyl-CoA acetyltransferase [RCV003119085] Chr11:108006357..108009701 [GRCh37]
Chr11:11q22.3		 pathogenic
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25		 pathogenic
NM_000019.4(ACAT1):c.433C>T (p.Gln145Ter) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002283674] Chr11:108135240 [GRCh38]
Chr11:108005967 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.369_372del (p.Asn123fs) deletion Deficiency of acetyl-CoA acetyltransferase [RCV002472124] Chr11:108135173..108135176 [GRCh38]
Chr11:108005900..108005903 [GRCh37]
Chr11:11q22.3		 pathogenic
GRCh37/hg19 11q22.1-22.3(chr11:101371503-109306519)x1 copy number loss not provided [RCV002472494] Chr11:101371503..109306519 [GRCh37]
Chr11:11q22.1-22.3		 pathogenic
NM_000019.4(ACAT1):c.826+3_826+6del deletion Deficiency of acetyl-CoA acetyltransferase [RCV002726398] Chr11:108141701..108141704 [GRCh38]
Chr11:108012428..108012431 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.1179G>A (p.Arg393=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002862827] Chr11:108147285 [GRCh38]
Chr11:108018012 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1248A>G (p.Gly416=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002994760] Chr11:108147354 [GRCh38]
Chr11:108018081 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1077T>G (p.Val359=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002839550] Chr11:108146273 [GRCh38]
Chr11:108017000 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1128C>A (p.Ile376=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002862747] Chr11:108146324 [GRCh38]
Chr11:108017051 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.941-16C>A single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003097589] Chr11:108143967 [GRCh38]
Chr11:108014694 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.209T>C (p.Ile70Thr) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003076776] Chr11:108133908 [GRCh38]
Chr11:108004635 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.826+7G>A single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003034732] Chr11:108141707 [GRCh38]
Chr11:108012434 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.75_76del (p.Glu25fs) deletion Deficiency of acetyl-CoA acetyltransferase [RCV003016768] Chr11:108131908..108131909 [GRCh38]
Chr11:108002635..108002636 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.73-10T>G single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002880392] Chr11:108131897 [GRCh38]
Chr11:108002624 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.941-17C>A single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002614840] Chr11:108143966 [GRCh38]
Chr11:108014693 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.747G>C (p.Val249=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002862984] Chr11:108141621 [GRCh38]
Chr11:108012348 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1219T>C (p.Tyr407His) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002617589] Chr11:108147325 [GRCh38]
Chr11:108018052 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.170del (p.Gly57fs) deletion Deficiency of acetyl-CoA acetyltransferase [RCV002838687] Chr11:108133868 [GRCh38]
Chr11:108004595 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.1081C>T (p.Leu361=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002994249] Chr11:108146277 [GRCh38]
Chr11:108017004 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.826+10A>G single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002617842] Chr11:108141710 [GRCh38]
Chr11:108012437 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.940+15_940+25del deletion Deficiency of acetyl-CoA acetyltransferase [RCV003076825] Chr11:108142564..108142574 [GRCh38]
Chr11:108013291..108013301 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.744_746del (p.Val250del) deletion Deficiency of acetyl-CoA acetyltransferase [RCV002837597] Chr11:108141616..108141618 [GRCh38]
Chr11:108012343..108012345 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.104C>G (p.Ser35Ter) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003039225] Chr11:108131938 [GRCh38]
Chr11:108002665 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.76A>G (p.Ile26Val) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002914237] Chr11:108131910 [GRCh38]
Chr11:108002637 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.133G>C (p.Val45Leu) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002953779] Chr11:108133832 [GRCh38]
Chr11:108004559 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.1183G>C (p.Val395Leu) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002592095] Chr11:108147289 [GRCh38]
Chr11:108018016 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.835del (p.Thr279fs) deletion Deficiency of acetyl-CoA acetyltransferase [RCV003055578] Chr11:108142444 [GRCh38]
Chr11:108013171 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.707T>C (p.Ile236Thr) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002640210] Chr11:108140192 [GRCh38]
Chr11:108010919 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_001386678.1(ACAT1):c.120+2267_120+2268del deletion Deficiency of acetyl-CoA acetyltransferase [RCV003100588] Chr11:108134220..108134221 [GRCh38]
Chr11:108004947..108004948 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.375_376del (p.Ala127fs) deletion Deficiency of acetyl-CoA acetyltransferase [RCV002781120] Chr11:108135181..108135182 [GRCh38]
Chr11:108005908..108005909 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.335-4T>G single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002796349] Chr11:108135138 [GRCh38]
Chr11:108005865 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.615T>C (p.Asn205=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002867693] Chr11:108140100 [GRCh38]
Chr11:108010827 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.9G>A (p.Val3=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002760763] Chr11:108121615 [GRCh38]
Chr11:107992342 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.730+6G>C single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003100171]|not specified [RCV003988053] Chr11:108140221 [GRCh38]
Chr11:108010948 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.940+7C>G single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002979885] Chr11:108142557 [GRCh38]
Chr11:108013284 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.73-1G>A single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002848197] Chr11:108131906 [GRCh38]
Chr11:108002633 [GRCh37]
Chr11:11q22.3		 likely pathogenic
NM_000019.4(ACAT1):c.1245A>G (p.Gly415=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002910133] Chr11:108147351 [GRCh38]
Chr11:108018078 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.24G>T (p.Leu8=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002847193] Chr11:108121630 [GRCh38]
Chr11:107992357 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1164-4T>C single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003035411] Chr11:108147266 [GRCh38]
Chr11:108017993 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.879G>A (p.Leu293=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003079564] Chr11:108142489 [GRCh38]
Chr11:108013216 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.121-8C>T single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003042282] Chr11:108133812 [GRCh38]
Chr11:108004539 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.876T>C (p.Ala292=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002932171] Chr11:108142486 [GRCh38]
Chr11:108013213 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.806_807del (p.Thr269fs) deletion Deficiency of acetyl-CoA acetyltransferase [RCV002575914]|not provided [RCV003321953] Chr11:108141679..108141680 [GRCh38]
Chr11:108012406..108012407 [GRCh37]
Chr11:11q22.3		 pathogenic|likely pathogenic
NM_000019.4(ACAT1):c.405G>T (p.Met135Ile) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002919040] Chr11:108135212 [GRCh38]
Chr11:108005939 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.340C>T (p.Pro114Ser) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003083368] Chr11:108135147 [GRCh38]
Chr11:108005874 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.1264A>T (p.Met422Leu) single nucleotide variant Inborn genetic diseases [RCV002743451] Chr11:108147370 [GRCh38]
Chr11:108018097 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.272del (p.Met91fs) deletion Deficiency of acetyl-CoA acetyltransferase [RCV002828055] Chr11:108134254 [GRCh38]
Chr11:108004981 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.365T>G (p.Ile122Arg) single nucleotide variant Inborn genetic diseases [RCV002697622] Chr11:108135172 [GRCh38]
Chr11:108005899 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.742G>A (p.Val248Ile) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002790133] Chr11:108141616 [GRCh38]
Chr11:108012343 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.867A>T (p.Gly289=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002802148] Chr11:108142477 [GRCh38]
Chr11:108013204 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.435+11C>T single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002644477] Chr11:108135253 [GRCh38]
Chr11:108005980 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.649_652dup (p.Ser218Ter) duplication Deficiency of acetyl-CoA acetyltransferase [RCV002791000] Chr11:108140130..108140131 [GRCh38]
Chr11:108010857..108010858 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.537T>C (p.Ile179=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002917868] Chr11:108138999 [GRCh38]
Chr11:108009726 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.49C>T (p.Pro17Ser) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002626959] Chr11:108121655 [GRCh38]
Chr11:107992382 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.930A>G (p.Ala310=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002890059] Chr11:108142540 [GRCh38]
Chr11:108013267 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.542_543del (p.Lys181fs) deletion Deficiency of acetyl-CoA acetyltransferase [RCV003022910] Chr11:108139002..108139003 [GRCh38]
Chr11:108009729..108009730 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.315G>A (p.Arg105=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002766691] Chr11:108134297 [GRCh38]
Chr11:108005024 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.21T>G (p.Leu7=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002852028] Chr11:108121627 [GRCh38]
Chr11:107992354 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.960A>G (p.Val320=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002932791] Chr11:108144002 [GRCh38]
Chr11:108014729 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1018G>A (p.Val340Met) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002572246] Chr11:108146214 [GRCh38]
Chr11:108016941 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.301C>T (p.Gln101Ter) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003044420] Chr11:108134283 [GRCh38]
Chr11:108005010 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.1089C>T (p.Asn363=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003030578] Chr11:108146285 [GRCh38]
Chr11:108017012 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.330dup (p.Ala111fs) duplication Deficiency of acetyl-CoA acetyltransferase [RCV002811084] Chr11:108134311..108134312 [GRCh38]
Chr11:108005038..108005039 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.1164-4T>G single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002833987] Chr11:108147266 [GRCh38]
Chr11:108017993 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1006-7A>T single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002576671] Chr11:108146195 [GRCh38]
Chr11:108016922 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.580-93_626del deletion Deficiency of acetyl-CoA acetyltransferase [RCV003046334] Chr11:108139968..108140107 [GRCh38]
Chr11:108010695..108010834 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.1192T>C (p.Leu398=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002988689] Chr11:108147298 [GRCh38]
Chr11:108018025 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.941-15C>G single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002939054] Chr11:108143968 [GRCh38]
Chr11:108014695 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.15G>T (p.Ala5=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002599432] Chr11:108121621 [GRCh38]
Chr11:107992348 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.855A>C (p.Thr285=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003028886] Chr11:108142465 [GRCh38]
Chr11:108013192 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.861T>C (p.Asn287=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002630846] Chr11:108142471 [GRCh38]
Chr11:108013198 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.435+12C>T single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003060642] Chr11:108135254 [GRCh38]
Chr11:108005981 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.51C>A (p.Pro17=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003087371] Chr11:108121657 [GRCh38]
Chr11:107992384 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.976C>G (p.Pro326Ala) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002577129] Chr11:108144018 [GRCh38]
Chr11:108014745 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.239-13T>G single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002715930] Chr11:108134208 [GRCh38]
Chr11:108004935 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.731-20T>G single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002580682] Chr11:108141585 [GRCh38]
Chr11:108012312 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.99T>C (p.Tyr33=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003046731] Chr11:108131933 [GRCh38]
Chr11:108002660 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.335-2A>G single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002833996] Chr11:108135140 [GRCh38]
Chr11:108005867 [GRCh37]
Chr11:11q22.3		 likely pathogenic
NM_000019.4(ACAT1):c.335-20G>C single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002627892] Chr11:108135122 [GRCh38]
Chr11:108005849 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.886A>T (p.Met296Leu) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003051013] Chr11:108142496 [GRCh38]
Chr11:108013223 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.72+6C>A single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003070441] Chr11:108121684 [GRCh38]
Chr11:107992411 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.303A>G (p.Gln101=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002586827] Chr11:108134285 [GRCh38]
Chr11:108005012 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.31G>A (p.Gly11Ser) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003067171] Chr11:108121637 [GRCh38]
Chr11:107992364 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.941-20C>A single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003071757] Chr11:108143963 [GRCh38]
Chr11:108014690 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.934A>G (p.Ile312Val) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002635550] Chr11:108142544 [GRCh38]
Chr11:108013271 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.1023A>G (p.Gly341=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002653188] Chr11:108146219 [GRCh38]
Chr11:108016946 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.522G>C (p.Lys174Asn) single nucleotide variant Inborn genetic diseases [RCV002656017] Chr11:108138984 [GRCh38]
Chr11:108009711 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.234G>A (p.Lys78=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002588510] Chr11:108133933 [GRCh38]
Chr11:108004660 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.826+16T>C single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002610446] Chr11:108141716 [GRCh38]
Chr11:108012443 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1096A>G (p.Met366Val) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002586270] Chr11:108146292 [GRCh38]
Chr11:108017019 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.475G>A (p.Val159Ile) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV002633332] Chr11:108138937 [GRCh38]
Chr11:108009664 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.238+2T>C single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003226625] Chr11:108133939 [GRCh38]
Chr11:108004666 [GRCh37]
Chr11:11q22.3		 likely pathogenic
NM_000019.4(ACAT1):c.592G>A (p.Glu198Lys) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003139577] Chr11:108140077 [GRCh38]
Chr11:108010804 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.256G>A (p.Val86Met) single nucleotide variant not provided [RCV003319840] Chr11:108134238 [GRCh38]
Chr11:108004965 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.401T>C (p.Met134Thr) single nucleotide variant not specified [RCV003324434] Chr11:108135208 [GRCh38]
Chr11:108005935 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.356G>A (p.Cys119Tyr) single nucleotide variant Inborn genetic diseases [RCV003363841] Chr11:108135163 [GRCh38]
Chr11:108005890 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.580-2A>G single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003460291] Chr11:108140063 [GRCh38]
Chr11:108010790 [GRCh37]
Chr11:11q22.3		 likely pathogenic
NM_000019.4(ACAT1):c.70C>T (p.Gln24Ter) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003460285] Chr11:108121676 [GRCh38]
Chr11:107992403 [GRCh37]
Chr11:11q22.3		 likely pathogenic
Single allele duplication not provided [RCV003448710] Chr11:102134973..134945611 [GRCh37]
Chr11:11q22.2-25		 pathogenic
NM_000019.4(ACAT1):c.72+17C>T single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003880134] Chr11:108121695 [GRCh38]
Chr11:107992422 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.455_475del (p.Gly152_Asn158del) deletion Deficiency of acetyl-CoA acetyltransferase [RCV003873675] Chr11:108138915..108138935 [GRCh38]
Chr11:108009642..108009662 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.419T>G (p.Leu140Arg) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003474425] Chr11:108135226 [GRCh38]
Chr11:108005953 [GRCh37]
Chr11:11q22.3		 likely pathogenic
NM_000019.4(ACAT1):c.720dup (p.Thr241fs) duplication Deficiency of acetyl-CoA acetyltransferase [RCV003460276] Chr11:108140203..108140204 [GRCh38]
Chr11:108010930..108010931 [GRCh37]
Chr11:11q22.3		 likely pathogenic
NM_000019.4(ACAT1):c.716_717del (p.Thr239fs) microsatellite Deficiency of acetyl-CoA acetyltransferase [RCV003460280] Chr11:108140199..108140200 [GRCh38]
Chr11:108010926..108010927 [GRCh37]
Chr11:11q22.3		 pathogenic|likely pathogenic
NM_000019.4(ACAT1):c.594_595del (p.Asn199fs) microsatellite Deficiency of acetyl-CoA acetyltransferase [RCV003460287] Chr11:108140077..108140078 [GRCh38]
Chr11:108010804..108010805 [GRCh37]
Chr11:11q22.3		 likely pathogenic
NM_000019.4(ACAT1):c.1005+2T>G single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003460290] Chr11:108144049 [GRCh38]
Chr11:108014776 [GRCh37]
Chr11:11q22.3		 likely pathogenic
NM_000019.4(ACAT1):c.1097dup (p.Met366fs) duplication Deficiency of acetyl-CoA acetyltransferase [RCV003460302] Chr11:108146292..108146293 [GRCh38]
Chr11:108017019..108017020 [GRCh37]
Chr11:11q22.3		 likely pathogenic
NM_000019.4(ACAT1):c.814del (p.Gln272fs) deletion Deficiency of acetyl-CoA acetyltransferase [RCV003474437] Chr11:108141687 [GRCh38]
Chr11:108012414 [GRCh37]
Chr11:11q22.3		 likely pathogenic
NM_000019.4(ACAT1):c.240_241insT (p.Ile81fs) insertion Deficiency of acetyl-CoA acetyltransferase [RCV003460279] Chr11:108134222..108134223 [GRCh38]
Chr11:108004949..108004950 [GRCh37]
Chr11:11q22.3		 likely pathogenic
NM_000019.4(ACAT1):c.184_186delinsA (p.Leu62fs) indel Deficiency of acetyl-CoA acetyltransferase [RCV003460295] Chr11:108133883..108133885 [GRCh38]
Chr11:108004610..108004612 [GRCh37]
Chr11:11q22.3		 likely pathogenic
NM_000019.4(ACAT1):c.626dup (p.Asn209fs) duplication Deficiency of acetyl-CoA acetyltransferase [RCV003460296] Chr11:108140108..108140109 [GRCh38]
Chr11:108010835..108010836 [GRCh37]
Chr11:11q22.3		 likely pathogenic
NM_000019.4(ACAT1):c.334+16T>C single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003606945] Chr11:108134332 [GRCh38]
Chr11:108005059 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.72+19C>T single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003606976] Chr11:108121697 [GRCh38]
Chr11:107992424 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1164-8_1164-4dup duplication Deficiency of acetyl-CoA acetyltransferase [RCV003607015] Chr11:108147259..108147260 [GRCh38]
Chr11:108017986..108017987 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.436-13T>C single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003606001] Chr11:108138885 [GRCh38]
Chr11:108009612 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1269_1270dup (p.Ile424fs) duplication Deficiency of acetyl-CoA acetyltransferase [RCV003606126] Chr11:108147374..108147375 [GRCh38]
Chr11:108018101..108018102 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.73-10T>C single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003606304] Chr11:108131897 [GRCh38]
Chr11:108002624 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.436-12G>A single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003606398] Chr11:108138886 [GRCh38]
Chr11:108009613 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1005+19G>T single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003606456] Chr11:108144066 [GRCh38]
Chr11:108014793 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.217C>T (p.Gln73Ter) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003606430] Chr11:108133916 [GRCh38]
Chr11:108004643 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.238+13T>C single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003606609] Chr11:108133950 [GRCh38]
Chr11:108004677 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.334+18_334+19del deletion Deficiency of acetyl-CoA acetyltransferase [RCV003606614] Chr11:108134330..108134331 [GRCh38]
Chr11:108005057..108005058 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.121-12G>A single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003606852] Chr11:108133808 [GRCh38]
Chr11:108004535 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.384A>C (p.Ser128=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003605231] Chr11:108135191 [GRCh38]
Chr11:108005918 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1078G>A (p.Val360Ile) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003605216] Chr11:108146274 [GRCh38]
Chr11:108017001 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.1260T>C (p.Ser420=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003605262] Chr11:108147366 [GRCh38]
Chr11:108018093 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.941-18_941-17insG insertion Deficiency of acetyl-CoA acetyltransferase [RCV003606805] Chr11:108143965..108143966 [GRCh38]
Chr11:108014692..108014693 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.731-10_731-8del deletion Deficiency of acetyl-CoA acetyltransferase [RCV003605345] Chr11:108141593..108141595 [GRCh38]
Chr11:108012320..108012322 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1215A>C (p.Gly405=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003831562] Chr11:108147321 [GRCh38]
Chr11:108018048 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.76dup (p.Ile26fs) duplication Deficiency of acetyl-CoA acetyltransferase [RCV003606393] Chr11:108131907..108131908 [GRCh38]
Chr11:108002634..108002635 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.1053A>G (p.Glu351=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003605559] Chr11:108146249 [GRCh38]
Chr11:108016976 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.435+20C>T single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003605576] Chr11:108135262 [GRCh38]
Chr11:108005989 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.531T>C (p.Asp177=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003606593] Chr11:108138993 [GRCh38]
Chr11:108009720 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1164-7A>C single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003606500] Chr11:108147263 [GRCh38]
Chr11:108017990 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.163T>A (p.Phe55Ile) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003606633] Chr11:108133862 [GRCh38]
Chr11:108004589 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.239-11_239-8del deletion Deficiency of acetyl-CoA acetyltransferase [RCV003606693] Chr11:108134201..108134204 [GRCh38]
Chr11:108004928..108004931 [GRCh37]
Chr11:11q22.3		 benign
NM_000019.4(ACAT1):c.435+13G>A single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003606984] Chr11:108135255 [GRCh38]
Chr11:108005982 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.318G>A (p.Gln106=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003605948] Chr11:108134300 [GRCh38]
Chr11:108005027 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.941-18C>T single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003606704] Chr11:108143965 [GRCh38]
Chr11:108014692 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1163+19T>G single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003606716] Chr11:108146378 [GRCh38]
Chr11:108017105 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.335-12T>C single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003607014] Chr11:108135130 [GRCh38]
Chr11:108005857 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.120+20C>G single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003606007] Chr11:108131974 [GRCh38]
Chr11:108002701 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1272T>A (p.Ile424=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003606767] Chr11:108147378 [GRCh38]
Chr11:108018105 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.940+12C>A single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003606692] Chr11:108142562 [GRCh38]
Chr11:108013289 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.189A>C (p.Pro63=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003605170] Chr11:108133888 [GRCh38]
Chr11:108004615 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1006-21C>A single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003606143] Chr11:108146181 [GRCh38]
Chr11:108016908 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1006-18T>A single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003606144] Chr11:108146184 [GRCh38]
Chr11:108016911 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.73-9A>G single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003605194] Chr11:108131898 [GRCh38]
Chr11:108002625 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1207A>T (p.Lys403Ter) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003606878] Chr11:108147313 [GRCh38]
Chr11:108018040 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.826+15A>G single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003606880] Chr11:108141715 [GRCh38]
Chr11:108012442 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.628G>T (p.Glu210Ter) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003606208] Chr11:108140113 [GRCh38]
Chr11:108010840 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.321A>T (p.Ala107=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003606896] Chr11:108134303 [GRCh38]
Chr11:108005030 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.121-19C>T single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003606923] Chr11:108133801 [GRCh38]
Chr11:108004528 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.72+10G>A single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003606951] Chr11:108121688 [GRCh38]
Chr11:107992415 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.941-16C>T single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003606996] Chr11:108143967 [GRCh38]
Chr11:108014694 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.826+20G>A single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003605409] Chr11:108141720 [GRCh38]
Chr11:108012447 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.580-8T>C single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003606027] Chr11:108140057 [GRCh38]
Chr11:108010784 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1006-4T>G single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003606785] Chr11:108146198 [GRCh38]
Chr11:108016925 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.335-20G>A single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003606796] Chr11:108135122 [GRCh38]
Chr11:108005849 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1116A>G (p.Gln372=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003606844] Chr11:108146312 [GRCh38]
Chr11:108017039 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.940+13G>A single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003606872] Chr11:108142563 [GRCh38]
Chr11:108013290 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.941-15C>A single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003606936] Chr11:108143968 [GRCh38]
Chr11:108014695 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1005+20dup duplication Deficiency of acetyl-CoA acetyltransferase [RCV003606954] Chr11:108144066..108144067 [GRCh38]
Chr11:108014793..108014794 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.941-19C>T single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003606967] Chr11:108143964 [GRCh38]
Chr11:108014691 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1163+20A>G single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003606969] Chr11:108146379 [GRCh38]
Chr11:108017106 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.291A>G (p.Gly97=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003605180] Chr11:108134273 [GRCh38]
Chr11:108005000 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1006-16T>C single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003606146] Chr11:108146186 [GRCh38]
Chr11:108016913 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.941-16_941-15insA insertion Deficiency of acetyl-CoA acetyltransferase [RCV003606390] Chr11:108143967..108143968 [GRCh38]
Chr11:108014694..108014695 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.120+17G>A single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003606979] Chr11:108131971 [GRCh38]
Chr11:108002698 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.630A>G (p.Glu210=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003606458] Chr11:108140115 [GRCh38]
Chr11:108010842 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.334+19T>G single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003606497] Chr11:108134335 [GRCh38]
Chr11:108005062 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.827-16_827-15del deletion Deficiency of acetyl-CoA acetyltransferase [RCV003607011] Chr11:108142420..108142421 [GRCh38]
Chr11:108013147..108013148 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1176C>G (p.Ala392=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003605308] Chr11:108147282 [GRCh38]
Chr11:108018009 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.609G>A (p.Lys203=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003605125] Chr11:108140094 [GRCh38]
Chr11:108010821 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.18A>G (p.Ala6=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003605471] Chr11:108121624 [GRCh38]
Chr11:107992351 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.335-19T>C single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003606570] Chr11:108135123 [GRCh38]
Chr11:108005850 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.238+20T>G single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003606618] Chr11:108133957 [GRCh38]
Chr11:108004684 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.941-17C>G single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003606636] Chr11:108143966 [GRCh38]
Chr11:108014693 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1163+16_1163+18del deletion Deficiency of acetyl-CoA acetyltransferase [RCV003605888] Chr11:108146375..108146377 [GRCh38]
Chr11:108017102..108017104 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.826+19A>C single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003830457] Chr11:108141719 [GRCh38]
Chr11:108012446 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1006-17C>A single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003606145] Chr11:108146185 [GRCh38]
Chr11:108016912 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1006-15T>C single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003606147] Chr11:108146187 [GRCh38]
Chr11:108016914 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.619del (p.Ala207fs) deletion Deficiency of acetyl-CoA acetyltransferase [RCV003605523] Chr11:108140104 [GRCh38]
Chr11:108010831 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.1A>C (p.Met1Leu) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003605530] Chr11:108121607 [GRCh38]
Chr11:107992334 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.238+11A>G single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003605536] Chr11:108133948 [GRCh38]
Chr11:108004675 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1006-18T>C single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003606079] Chr11:108146184 [GRCh38]
Chr11:108016911 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.126G>A (p.Val42=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003605568] Chr11:108133825 [GRCh38]
Chr11:108004552 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.39C>A (p.Arg13=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003876730] Chr11:108121645 [GRCh38]
Chr11:107992372 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.940+15G>A single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003879494] Chr11:108142565 [GRCh38]
Chr11:108013292 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.10C>T (p.Leu4=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003605240] Chr11:108121616 [GRCh38]
Chr11:107992343 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1206G>A (p.Leu402=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003605931] Chr11:108147312 [GRCh38]
Chr11:108018039 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1278G>A (p.Lys426=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003606200] Chr11:108147384 [GRCh38]
Chr11:108018111 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.552_555del (p.Thr185fs) deletion Deficiency of acetyl-CoA acetyltransferase [RCV003605968] Chr11:108139012..108139015 [GRCh38]
Chr11:108009739..108009742 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.1005+20C>T single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003605977] Chr11:108144067 [GRCh38]
Chr11:108014794 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.940+20C>G single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003605979] Chr11:108142570 [GRCh38]
Chr11:108013297 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.72+15T>A single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003606060] Chr11:108121693 [GRCh38]
Chr11:107992420 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.912C>A (p.Leu304=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003605408] Chr11:108142522 [GRCh38]
Chr11:108013249 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.326T>G (p.Leu109Trp) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003605416] Chr11:108134308 [GRCh38]
Chr11:108005035 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.474T>C (p.Asn158=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003605424] Chr11:108138936 [GRCh38]
Chr11:108009663 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.827-18C>A single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003825206] Chr11:108142419 [GRCh38]
Chr11:108013146 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.200T>G (p.Leu67Arg) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003852235] Chr11:108133899 [GRCh38]
Chr11:108004626 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.408C>A (p.Ala136=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003498901] Chr11:108135215 [GRCh38]
Chr11:108005942 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.579+7G>A single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003498250] Chr11:108139048 [GRCh38]
Chr11:108009775 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.477T>C (p.Val159=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003498254] Chr11:108138939 [GRCh38]
Chr11:108009666 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.93G>A (p.Arg31=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003851241] Chr11:108131927 [GRCh38]
Chr11:108002654 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.447G>A (p.Val149=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003851302] Chr11:108138909 [GRCh38]
Chr11:108009636 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.941-14_941-13del deletion Deficiency of acetyl-CoA acetyltransferase [RCV003499085] Chr11:108143969..108143970 [GRCh38]
Chr11:108014696..108014697 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.869dup (p.Ala291fs) duplication Deficiency of acetyl-CoA acetyltransferase [RCV003500484] Chr11:108142478..108142479 [GRCh38]
Chr11:108013205..108013206 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.1159A>G (p.Ile387Val) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003810932] Chr11:108146355 [GRCh38]
Chr11:108017082 [GRCh37]
Chr11:11q22.3		 likely pathogenic
NM_000019.4(ACAT1):c.334+2T>A single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003839361] Chr11:108134318 [GRCh38]
Chr11:108005045 [GRCh37]
Chr11:11q22.3		 likely pathogenic
NM_000019.4(ACAT1):c.72+8G>C single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003501191] Chr11:108121686 [GRCh38]
Chr11:107992413 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1197T>C (p.Thr399=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003856585] Chr11:108147303 [GRCh38]
Chr11:108018030 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.789del (p.Val264fs) deletion Deficiency of acetyl-CoA acetyltransferase [RCV003500147] Chr11:108141661 [GRCh38]
Chr11:108012388 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.394G>C (p.Ala132Pro) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003840235] Chr11:108135201 [GRCh38]
Chr11:108005928 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.335-16C>T single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003837489] Chr11:108135126 [GRCh38]
Chr11:108005853 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.410_411insGGGCCTC (p.Gln138fs) insertion Deficiency of acetyl-CoA acetyltransferase [RCV003836235] Chr11:108135211..108135212 [GRCh38]
Chr11:108005938..108005939 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.73-18T>C single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003499875] Chr11:108131889 [GRCh38]
Chr11:108002616 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1005+11A>C single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003501138] Chr11:108144058 [GRCh38]
Chr11:108014785 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.381_396del (p.Ser128_Gly129insTer) deletion Deficiency of acetyl-CoA acetyltransferase [RCV003499744] Chr11:108135187..108135202 [GRCh38]
Chr11:108005914..108005929 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.962_963del (p.Glu321fs) deletion Deficiency of acetyl-CoA acetyltransferase [RCV003501196] Chr11:108144004..108144005 [GRCh38]
Chr11:108014731..108014732 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.1230C>T (p.Ala410=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003499874] Chr11:108147336 [GRCh38]
Chr11:108018063 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.120+20C>T single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003501629] Chr11:108131974 [GRCh38]
Chr11:108002701 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.73-13A>G single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003501832] Chr11:108131894 [GRCh38]
Chr11:108002621 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.238+20T>C single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003839608] Chr11:108133957 [GRCh38]
Chr11:108004684 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.355T>G (p.Cys119Gly) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003500102] Chr11:108135162 [GRCh38]
Chr11:108005889 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.335-3del deletion Deficiency of acetyl-CoA acetyltransferase [RCV003500276] Chr11:108135136 [GRCh38]
Chr11:108005863 [GRCh37]
Chr11:11q22.3		 benign
NM_000019.4(ACAT1):c.941-18C>G single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003501929] Chr11:108143965 [GRCh38]
Chr11:108014692 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.483T>G (p.Tyr161Ter) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003839079] Chr11:108138945 [GRCh38]
Chr11:108009672 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.1163+18C>T single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003498935] Chr11:108146377 [GRCh38]
Chr11:108017104 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1163+11A>G single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003500358] Chr11:108146370 [GRCh38]
Chr11:108017097 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1204T>C (p.Leu402=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003501921] Chr11:108147310 [GRCh38]
Chr11:108018037 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.827-17C>G single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003501779] Chr11:108142420 [GRCh38]
Chr11:108013147 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.940+14_940+18del deletion Deficiency of acetyl-CoA acetyltransferase [RCV003498184] Chr11:108142563..108142567 [GRCh38]
Chr11:108013290..108013294 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1163+20A>C single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003501177] Chr11:108146379 [GRCh38]
Chr11:108017106 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1210C>T (p.Gln404Ter) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003500033] Chr11:108147316 [GRCh38]
Chr11:108018043 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.239-17_239-16insC insertion Deficiency of acetyl-CoA acetyltransferase [RCV003501773] Chr11:108134204..108134205 [GRCh38]
Chr11:108004931..108004932 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.120+1G>A single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003501161] Chr11:108131955 [GRCh38]
Chr11:108002682 [GRCh37]
Chr11:11q22.3		 likely pathogenic
NM_000019.4(ACAT1):c.1006-8A>C single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003501786] Chr11:108146194 [GRCh38]
Chr11:108016921 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.580-14C>A single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003500016] Chr11:108140051 [GRCh38]
Chr11:108010778 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.73-17_73-12del deletion Deficiency of acetyl-CoA acetyltransferase [RCV003500022] Chr11:108131887..108131892 [GRCh38]
Chr11:108002614..108002619 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.852T>C (p.Ser284=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003501809] Chr11:108142462 [GRCh38]
Chr11:108013189 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.435+19C>T single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003500079] Chr11:108135261 [GRCh38]
Chr11:108005988 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.657T>C (p.Tyr219=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003501838] Chr11:108140142 [GRCh38]
Chr11:108010869 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1005+11A>T single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003500335] Chr11:108144058 [GRCh38]
Chr11:108014785 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.827-16T>A single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003501802] Chr11:108142421 [GRCh38]
Chr11:108013148 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1203C>T (p.Ala401=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003500405] Chr11:108147309 [GRCh38]
Chr11:108018036 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.987T>C (p.Pro329=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003498246] Chr11:108144029 [GRCh38]
Chr11:108014756 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.855A>G (p.Thr285=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003499591] Chr11:108142465 [GRCh38]
Chr11:108013192 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1164-11C>T single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003498209] Chr11:108147259 [GRCh38]
Chr11:108017986 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.588T>C (p.Cys196=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003501119] Chr11:108140073 [GRCh38]
Chr11:108010800 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.372dup (p.Val125fs) duplication Deficiency of acetyl-CoA acetyltransferase [RCV003498971] Chr11:108135176..108135177 [GRCh38]
Chr11:108005903..108005904 [GRCh37]
Chr11:11q22.3		 pathogenic
NM_000019.4(ACAT1):c.972T>C (p.Asp324=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003500295] Chr11:108144014 [GRCh38]
Chr11:108014741 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1164-17T>C single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003811444] Chr11:108147253 [GRCh38]
Chr11:108017980 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1024T>C (p.Leu342=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003499279] Chr11:108146220 [GRCh38]
Chr11:108016947 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.579+17G>T single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003499561] Chr11:108139058 [GRCh38]
Chr11:108009785 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.549G>A (p.Gly183=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003861648] Chr11:108139011 [GRCh38]
Chr11:108009738 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.33C>T (p.Gly11=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003853047] Chr11:108121639 [GRCh38]
Chr11:107992366 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.239-10_239-8del deletion Deficiency of acetyl-CoA acetyltransferase [RCV003861054] Chr11:108134201..108134203 [GRCh38]
Chr11:108004928..108004930 [GRCh37]
Chr11:11q22.3		 benign
NM_000019.4(ACAT1):c.940+12C>G single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003864602] Chr11:108142562 [GRCh38]
Chr11:108013289 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.731-20T>C single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003869660] Chr11:108141585 [GRCh38]
Chr11:108012312 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.827-16T>C single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003857142] Chr11:108142421 [GRCh38]
Chr11:108013148 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1023A>T (p.Gly341=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003862751] Chr11:108146219 [GRCh38]
Chr11:108016946 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.436-14G>A single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003869099] Chr11:108138884 [GRCh38]
Chr11:108009611 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.936A>T (p.Ile312=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003862620] Chr11:108142546 [GRCh38]
Chr11:108013273 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.1163+14A>G single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003865298] Chr11:108146373 [GRCh38]
Chr11:108017100 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.213A>C (p.Ala71=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003869555] Chr11:108133912 [GRCh38]
Chr11:108004639 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.510T>C (p.Tyr170=) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003821527] Chr11:108138972 [GRCh38]
Chr11:108009699 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.436-15G>A single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003857592] Chr11:108138883 [GRCh38]
Chr11:108009610 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.73-3C>T single nucleotide variant ACAT1-related condition [RCV003899732] Chr11:108131904 [GRCh38]
Chr11:108002631 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.410C>T (p.Ser137Phe) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003988757] Chr11:108135217 [GRCh38]
Chr11:108005944 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_000019.4(ACAT1):c.276T>C (p.Gly92=) single nucleotide variant ACAT1-related condition [RCV003954677] Chr11:108134258 [GRCh38]
Chr11:108004985 [GRCh37]
Chr11:11q22.3		 likely benign
NM_000019.4(ACAT1):c.459G>A (p.Met153Ile) single nucleotide variant Deficiency of acetyl-CoA acetyltransferase [RCV003338087] Chr11:108138921 [GRCh38]
Chr11:108009648 [GRCh37]
Chr11:11q22.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1865
Count of miRNA genes:974
Interacting mature miRNAs:1188
Transcripts:ENST00000265838, ENST00000299355, ENST00000524833, ENST00000526119, ENST00000527942, ENST00000528370, ENST00000531813, ENST00000531853, ENST00000532792, ENST00000533597, ENST00000533610, ENST00000534773
Prediction methods:Microtar, 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.

Markers in Region
D11S384  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711108,009,733 - 108,010,008UniSTSGRCh37
GRCh3711108,014,083 - 108,014,346UniSTSGRCh37
GRCh3711108,040,078 - 108,040,323UniSTSGRCh37
Build 3611107,519,293 - 107,519,556RGDNCBI36
Celera11105,168,994 - 105,169,257RGD
Celera11105,195,031 - 105,195,276UniSTS
Celera11105,164,633 - 105,164,908UniSTS
Cytogenetic Map11q22.3UniSTS
HuRef11103,935,528 - 103,935,803UniSTS
HuRef11103,939,709 - 103,939,972UniSTS
HuRef11103,965,700 - 103,965,945UniSTS
D11S2241E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711108,018,036 - 108,018,182UniSTSGRCh37
Build 3611107,523,246 - 107,523,392RGDNCBI36
Celera11105,172,946 - 105,173,092RGD
Cytogenetic Map11q22.3UniSTS
HuRef11103,943,661 - 103,943,807UniSTS
RH45817  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711108,018,984 - 108,019,164UniSTSGRCh37
Build 3611107,524,194 - 107,524,374RGDNCBI36
Celera11105,173,894 - 105,174,074RGD
Cytogenetic Map11q22.3UniSTS
HuRef11103,944,609 - 103,944,789UniSTS
GeneMap99-GB4 RH Map11365.77UniSTS
NCBI RH Map11999.9UniSTS
D11S2051  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711108,018,005 - 108,018,108UniSTSGRCh37
Build 3611107,523,215 - 107,523,318RGDNCBI36
Celera11105,172,915 - 105,173,018RGD
Cytogenetic Map11q22.3UniSTS
HuRef11103,943,630 - 103,943,733UniSTS
D11S4336  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711108,018,166 - 108,018,275UniSTSGRCh37
Build 3611107,523,376 - 107,523,485RGDNCBI36
Celera11105,173,076 - 105,173,185RGD
Cytogenetic Map11q22.3UniSTS
HuRef11103,943,791 - 103,943,900UniSTS
TNG Radiation Hybrid Map1149430.0UniSTS
Stanford-G3 RH Map114763.0UniSTS
GeneMap99-GB4 RH Map11366.65UniSTS
Whitehead-RH Map11490.4UniSTS
NCBI RH Map11998.8UniSTS
GeneMap99-G3 RH Map114763.0UniSTS
STS-AA010069  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711108,018,586 - 108,018,702UniSTSGRCh37
Build 3611107,523,796 - 107,523,912RGDNCBI36
Celera11105,173,496 - 105,173,612RGD
Cytogenetic Map11q22.3UniSTS
HuRef11103,944,211 - 103,944,327UniSTS
GeneMap99-GB4 RH Map11365.77UniSTS
NCBI RH Map11999.9UniSTS
ACAT1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711108,017,942 - 108,018,145UniSTSGRCh37
Build 3611107,523,152 - 107,523,355RGDNCBI36
Celera11105,172,852 - 105,173,055RGD
Cytogenetic Map11q22.3UniSTS
HuRef11103,943,567 - 103,943,770UniSTS
GeneMap99-GB4 RH Map11365.77UniSTS
NCBI RH Map11999.9UniSTS
GDB:555481  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11q22.3UniSTS
GDB:555487  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11q22.3UniSTS
GDB:555490  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11q22.3UniSTS
D11S384  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11q22.3UniSTS


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 1
Medium 2397 2162 1708 622 1140 462 4355 2121 3274 400 1396 1595 174 1 1203 2788 4 2
Low 42 819 18 2 801 3 2 76 460 18 64 18 1 1 2
Below cutoff 10 10

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_170162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_170163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF086561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP002433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW081574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM789408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D10511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D90228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM005511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S70578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000265838   ⟹   ENSP00000265838
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11108,121,567 - 108,147,603 (+)Ensembl
RefSeq Acc Id: ENST00000299355   ⟹   ENSP00000299355
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11108,121,567 - 108,136,939 (+)Ensembl
RefSeq Acc Id: ENST00000524833
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11108,121,567 - 108,134,448 (+)Ensembl
RefSeq Acc Id: ENST00000526119
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11108,121,805 - 108,131,954 (+)Ensembl
RefSeq Acc Id: ENST00000527942
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11108,121,796 - 108,135,241 (+)Ensembl
RefSeq Acc Id: ENST00000528370   ⟹   ENSP00000436096
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11108,133,894 - 108,139,164 (+)Ensembl
RefSeq Acc Id: ENST00000531813   ⟹   ENSP00000435965
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11108,121,584 - 108,143,946 (+)Ensembl
RefSeq Acc Id: ENST00000531853
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11108,121,751 - 108,134,244 (+)Ensembl
RefSeq Acc Id: ENST00000532792
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11108,138,968 - 108,144,221 (+)Ensembl
RefSeq Acc Id: ENST00000533597
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11108,146,121 - 108,147,588 (+)Ensembl
RefSeq Acc Id: ENST00000533610
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11108,140,025 - 108,144,147 (+)Ensembl
RefSeq Acc Id: ENST00000534773
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11108,138,720 - 108,140,171 (+)Ensembl
RefSeq Acc Id: ENST00000671707
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11108,122,342 - 108,147,455 (+)Ensembl
RefSeq Acc Id: ENST00000672008   ⟹   ENSP00000500499
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11108,121,593 - 108,141,612 (+)Ensembl
RefSeq Acc Id: ENST00000672031   ⟹   ENSP00000500463
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11108,121,567 - 108,147,452 (+)Ensembl
RefSeq Acc Id: ENST00000672284   ⟹   ENSP00000500444
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11108,116,695 - 108,147,594 (+)Ensembl
RefSeq Acc Id: ENST00000672354   ⟹   ENSP00000500490
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11108,121,572 - 108,147,492 (+)Ensembl
RefSeq Acc Id: ENST00000672367   ⟹   ENSP00000500209
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11108,121,567 - 108,147,603 (+)Ensembl
RefSeq Acc Id: ENST00000672580   ⟹   ENSP00000500366
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11108,121,553 - 108,147,587 (+)Ensembl
RefSeq Acc Id: ENST00000672907   ⟹   ENSP00000500928
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11108,121,567 - 108,147,603 (+)Ensembl
RefSeq Acc Id: ENST00000673000
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11108,127,919 - 108,147,388 (+)Ensembl
RefSeq Acc Id: ENST00000673531   ⟹   ENSP00000500163
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11108,121,567 - 108,147,470 (+)Ensembl
RefSeq Acc Id: NM_000019   ⟹   NP_000010
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811108,121,567 - 108,147,603 (+)NCBI
GRCh3711107,992,258 - 108,018,895 (+)ENTREZGENE
Build 3611107,497,468 - 107,523,485 (+)NCBI Archive
HuRef11103,917,783 - 103,944,520 (+)ENTREZGENE
CHM1_111107,875,420 - 107,902,046 (+)NCBI
T2T-CHM13v2.011108,129,104 - 108,155,151 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001386677   ⟹   NP_001373606
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811108,121,567 - 108,147,603 (+)NCBI
T2T-CHM13v2.011108,129,104 - 108,155,151 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001386678   ⟹   NP_001373607
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811108,121,567 - 108,147,603 (+)NCBI
T2T-CHM13v2.011108,129,104 - 108,155,151 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001386679   ⟹   NP_001373608
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811108,121,567 - 108,147,603 (+)NCBI
T2T-CHM13v2.011108,129,104 - 108,155,151 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001386681   ⟹   NP_001373610
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811108,116,705 - 108,147,603 (+)NCBI
T2T-CHM13v2.011108,124,245 - 108,155,151 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001386682   ⟹   NP_001373611
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811108,116,705 - 108,147,603 (+)NCBI
T2T-CHM13v2.011108,124,245 - 108,155,151 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001386685   ⟹   NP_001373614
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811108,121,567 - 108,147,603 (+)NCBI
T2T-CHM13v2.011108,129,104 - 108,155,151 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001386686   ⟹   NP_001373615
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811108,121,567 - 108,147,603 (+)NCBI
T2T-CHM13v2.011108,129,104 - 108,155,151 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001386687   ⟹   NP_001373616
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811108,121,796 - 108,147,603 (+)NCBI
T2T-CHM13v2.011108,129,333 - 108,155,151 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001386688   ⟹   NP_001373617
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811108,121,796 - 108,147,603 (+)NCBI
T2T-CHM13v2.011108,129,333 - 108,155,151 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001386689   ⟹   NP_001373618
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811108,121,796 - 108,147,603 (+)NCBI
T2T-CHM13v2.011108,129,333 - 108,155,151 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001386690   ⟹   NP_001373619
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811108,121,796 - 108,147,603 (+)NCBI
T2T-CHM13v2.011108,129,333 - 108,155,151 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001386691   ⟹   NP_001373620
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811108,121,796 - 108,147,603 (+)NCBI
T2T-CHM13v2.011108,129,333 - 108,155,151 (+)NCBI
Sequence:
RefSeq Acc Id: NR_170162
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811108,121,567 - 108,147,603 (+)NCBI
T2T-CHM13v2.011108,129,104 - 108,155,151 (+)NCBI
Sequence:
RefSeq Acc Id: NR_170163
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811108,121,567 - 108,147,603 (+)NCBI
T2T-CHM13v2.011108,129,104 - 108,155,151 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000010 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373606 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373607 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373608 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373610 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373611 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373614 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373615 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373616 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373617 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373618 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373619 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373620 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH10942 (Get FASTA)   NCBI Sequence Viewer  
  AEE61108 (Get FASTA)   NCBI Sequence Viewer  
  BAA01387 (Get FASTA)   NCBI Sequence Viewer  
  BAA14278 (Get FASTA)   NCBI Sequence Viewer  
  BAG35468 (Get FASTA)   NCBI Sequence Viewer  
  EAW67103 (Get FASTA)   NCBI Sequence Viewer  
  EAW67104 (Get FASTA)   NCBI Sequence Viewer  
  EAW67105 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000265838
  ENSP00000265838.4
  ENSP00000299355.6
  ENSP00000435965.1
  ENSP00000436096.1
  ENSP00000500163
  ENSP00000500163.1
  ENSP00000500209.1
  ENSP00000500366.1
  ENSP00000500444
  ENSP00000500444.1
  ENSP00000500463.1
  ENSP00000500490
  ENSP00000500490.1
  ENSP00000500499.1
  ENSP00000500928
  ENSP00000500928.1
GenBank Protein P24752 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_000010   ⟸   NM_000019
- Peptide Label: isoform b precursor
- UniProtKB: G3XAB4 (UniProtKB/Swiss-Prot),   B2R6H1 (UniProtKB/Swiss-Prot),   Q96FG8 (UniProtKB/Swiss-Prot),   P24752 (UniProtKB/Swiss-Prot),   A0A140VJX1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000500163   ⟸   ENST00000673531
RefSeq Acc Id: ENSP00000435965   ⟸   ENST00000531813
RefSeq Acc Id: ENSP00000299355   ⟸   ENST00000299355
RefSeq Acc Id: ENSP00000436096   ⟸   ENST00000528370
RefSeq Acc Id: ENSP00000265838   ⟸   ENST00000265838
RefSeq Acc Id: ENSP00000500444   ⟸   ENST00000672284
RefSeq Acc Id: ENSP00000500463   ⟸   ENST00000672031
RefSeq Acc Id: ENSP00000500499   ⟸   ENST00000672008
RefSeq Acc Id: ENSP00000500366   ⟸   ENST00000672580
RefSeq Acc Id: ENSP00000500490   ⟸   ENST00000672354
RefSeq Acc Id: ENSP00000500209   ⟸   ENST00000672367
RefSeq Acc Id: ENSP00000500928   ⟸   ENST00000672907
RefSeq Acc Id: NP_001373611   ⟸   NM_001386682
- Peptide Label: isoform e
- UniProtKB: A0A5F9ZHJ0 (UniProtKB/TrEMBL),   A0A5F9ZHD4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001373610   ⟸   NM_001386681
- Peptide Label: isoform e
- UniProtKB: A0A5F9ZHJ0 (UniProtKB/TrEMBL),   A0A5F9ZHD4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001373614   ⟸   NM_001386685
- Peptide Label: isoform e
- UniProtKB: A0A5F9ZHJ0 (UniProtKB/TrEMBL),   A0A5F9ZHD4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001373615   ⟸   NM_001386686
- Peptide Label: isoform e
- UniProtKB: A0A5F9ZHJ0 (UniProtKB/TrEMBL),   A0A5F9ZHD4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001373606   ⟸   NM_001386677
- Peptide Label: isoform a precursor
- UniProtKB: A0A5F9ZHL1 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001373608   ⟸   NM_001386679
- Peptide Label: isoform d
- UniProtKB: A0A5F9ZHD4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001373607   ⟸   NM_001386678
- Peptide Label: isoform c
- UniProtKB: A0A5F9ZI66 (UniProtKB/TrEMBL),   A0A5F9ZHD4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001373616   ⟸   NM_001386687
- Peptide Label: isoform e
- UniProtKB: A0A5F9ZHJ0 (UniProtKB/TrEMBL),   A0A5F9ZHD4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001373617   ⟸   NM_001386688
- Peptide Label: isoform e
- UniProtKB: A0A5F9ZHJ0 (UniProtKB/TrEMBL),   A0A5F9ZHD4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001373619   ⟸   NM_001386690
- Peptide Label: isoform e
- UniProtKB: A0A5F9ZHJ0 (UniProtKB/TrEMBL),   A0A5F9ZHD4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001373620   ⟸   NM_001386691
- Peptide Label: isoform e
- UniProtKB: A0A5F9ZHJ0 (UniProtKB/TrEMBL),   A0A5F9ZHD4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001373618   ⟸   NM_001386689
- Peptide Label: isoform e
- UniProtKB: A0A5F9ZHJ0 (UniProtKB/TrEMBL),   A0A5F9ZHD4 (UniProtKB/TrEMBL)
Protein Domains
Thiolase C-terminal   Thiolase N-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P24752-F1-model_v2 AlphaFold P24752 1-427 view protein structure

Promoters
RGD ID:6788748
Promoter ID:HG_KWN:14111
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:ENST00000375674,   NM_000019,   UC001PJW.1,   UC001PJX.2
Position:
Human AssemblyChrPosition (strand)Source
Build 3611107,497,261 - 107,497,761 (+)MPROMDB
RGD ID:7222011
Promoter ID:EPDNEW_H16751
Type:initiation region
Name:ACAT1_1
Description:acetyl-CoA acetyltransferase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811108,121,567 - 108,121,627EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:93 AgrOrtholog
COSMIC ACAT1 COSMIC
Ensembl Genes ENSG00000075239 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000265838 ENTREZGENE
  ENST00000265838.9 UniProtKB/Swiss-Prot
  ENST00000299355.10 UniProtKB/Swiss-Prot
  ENST00000528370.1 UniProtKB/TrEMBL
  ENST00000531813.5 UniProtKB/TrEMBL
  ENST00000672008.1 UniProtKB/TrEMBL
  ENST00000672031 ENTREZGENE
  ENST00000672031.1 UniProtKB/TrEMBL
  ENST00000672284 ENTREZGENE
  ENST00000672284.1 UniProtKB/TrEMBL
  ENST00000672354 ENTREZGENE
  ENST00000672354.1 UniProtKB/TrEMBL
  ENST00000672367.1 UniProtKB/TrEMBL
  ENST00000672580.1 UniProtKB/TrEMBL
  ENST00000672907 ENTREZGENE
  ENST00000672907.1 UniProtKB/TrEMBL
  ENST00000673531 ENTREZGENE
  ENST00000673531.1 UniProtKB/TrEMBL
Gene3D-CATH 3.40.47.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000075239 GTEx
HGNC ID HGNC:93 ENTREZGENE
Human Proteome Map ACAT1 Human Proteome Map
InterPro Thiolase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Thiolase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Thiolase_acyl_enz_int_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Thiolase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Thiolase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Thiolase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Thiolase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:38 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 38 ENTREZGENE
OMIM 607809 OMIM
PANTHER ACETYL-COA ACETYLTRANSFERASE, MITOCHONDRIAL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ACETYL-COA C-ACYLTRANSFERASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Thiolase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Thiolase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24431 PharmGKB
PIRSF Ac-CoA_Ac_transf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE THIOLASE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  THIOLASE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  THIOLASE_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53901 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A140VJX1 ENTREZGENE, UniProtKB/TrEMBL
  A0A5F9ZHD4 ENTREZGENE, UniProtKB/TrEMBL
  A0A5F9ZHH9_HUMAN UniProtKB/TrEMBL
  A0A5F9ZHJ0 ENTREZGENE, UniProtKB/TrEMBL
  A0A5F9ZHJ7_HUMAN UniProtKB/TrEMBL
  A0A5F9ZHL1 ENTREZGENE, UniProtKB/TrEMBL
  A0A5F9ZHL7_HUMAN UniProtKB/TrEMBL
  A0A5F9ZI66 ENTREZGENE, UniProtKB/TrEMBL
  B2R6H1 ENTREZGENE
  E9PRQ6_HUMAN UniProtKB/TrEMBL
  G3XAB4 ENTREZGENE
  H0YEL7_HUMAN UniProtKB/TrEMBL
  P24752 ENTREZGENE
  Q96FG8 ENTREZGENE
  THIL_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B2R6H1 UniProtKB/Swiss-Prot
  G3XAB4 UniProtKB/Swiss-Prot
  Q96FG8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-07-27 ACAT1  acetyl-CoA acetyltransferase 1  ACAT1  acetyl-Coenzyme A acetyltransferase 1  Symbol and/or name change 5135510 APPROVED