ACACA (acetyl-CoA carboxylase alpha) - Rat Genome Database

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Gene: ACACA (acetyl-CoA carboxylase alpha) Homo sapiens
Analyze
Symbol: ACACA
Name: acetyl-CoA carboxylase alpha
RGD ID: 736015
HGNC Page HGNC:84
Description: Enables acetyl-CoA carboxylase activity and identical protein binding activity. Predicted to be involved in acetyl-CoA metabolic process; fatty acid biosynthetic process; and protein homotetramerization. Predicted to act upstream of or within several processes, including cellular response to prostaglandin E stimulus; lipid homeostasis; and tissue homeostasis. Located in actin cytoskeleton; cytosol; and fibrillar center.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ACAC; Acac1; ACACAD; ACACalpha; ACC; ACC-alpha; ACC1; ACCA; ACCalpha; acetyl-CoA carboxylase 1; acetyl-CoA carboxylase-alpha; acetyl-Coenzyme A carboxylase alpha; hACC1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381737,084,992 - 37,406,836 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1737,084,992 - 37,406,836 (-)EnsemblGRCh38hg38GRCh38
GRCh371735,441,927 - 35,766,927 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361732,516,040 - 32,841,015 (-)NCBINCBI36Build 36hg18NCBI36
Build 341732,516,039 - 32,841,015NCBI
Celera1732,264,387 - 32,589,361 (-)NCBICelera
Cytogenetic Map17q12NCBI
HuRef1731,594,734 - 31,704,859 (-)NCBIHuRef
HuRef1731,378,027 - 31,583,939 (-)NCBIHuRef
CHM1_11735,476,555 - 35,798,374 (-)NCBICHM1_1
T2T-CHM13v2.01738,071,975 - 38,396,996 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (ISO)
(1->4)-beta-D-glucan  (ISO)
(S)-nicotine  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1,3-dichloropropan-2-ol  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2,2-tetramine  (ISO)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-amino-2-deoxy-D-glucopyranose  (EXP)
2-hydroxypropanoic acid  (EXP)
2-methylcholine  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3,3',5-triiodo-L-thyronine  (EXP,ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP,ISO)
4,4'-sulfonyldiphenol  (ISO)
4-tert-Octylphenol  (ISO)
5-(2-chloroethyl)-4-methylthiazole  (ISO)
5-aza-2'-deoxycytidine  (EXP)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-(4-chlorophenyl)imidazo[2,1-b][1,3]thiazole-5-carbaldehyde O-(3,4-dichlorobenzyl)oxime  (EXP)
6-chloro-2,3,4,9-tetrahydro-1H-carbazole-1-carboxamide  (ISO)
6-propyl-2-thiouracil  (ISO)
9-oxononanoic acid  (ISO)
acadesine  (ISO)
acetamide  (ISO)
acetylsalicylic acid  (EXP)
acrolein  (EXP)
acrylamide  (ISO)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
AICA ribonucleotide  (EXP,ISO)
aldehydo-D-glucosamine  (EXP)
aldehydo-D-glucose  (EXP,ISO)
all-trans-retinoic acid  (EXP)
alpha-linolenic acid  (ISO)
alpha-pinene  (EXP)
amiodarone  (EXP,ISO)
amitrole  (ISO)
amlexanox  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
aristolochic acids  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (ISO)
atrazine  (ISO)
azoxystrobin  (EXP,ISO)
benzbromarone  (ISO)
benzene  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
benzo[e]pyrene  (EXP)
benzylpenicillin  (ISO)
beta-D-glucosamine  (EXP)
bexarotene  (ISO)
bezafibrate  (ISO)
biguanides  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP)
buspirone  (ISO)
Butylbenzyl phthalate  (ISO)
C60 fullerene  (ISO)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
caffeine  (EXP,ISO)
cannabidiol  (ISO)
capsazepine  (ISO)
carbendazim  (ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chenodeoxycholic acid  (ISO)
chicoric acid  (ISO)
chloroethene  (ISO)
chlorpromazine  (ISO)
chlorpyrifos  (ISO)
cholesterol  (ISO)
choline  (ISO)
cis-caffeic acid  (EXP)
cisplatin  (EXP,ISO)
clobetasol  (ISO)
clofazimine  (ISO)
clofibrate  (ISO)
cobalt dichloride  (EXP,ISO)
colforsin daropate hydrochloride  (ISO)
cordycepin  (EXP)
corn oil  (ISO)
corticosterone  (ISO)
cortisol  (EXP)
crizotinib  (EXP)
curcumin  (EXP,ISO)
cyanocob(III)alamin  (ISO)
cyclosporin A  (EXP,ISO)
cyhalothrin  (EXP,ISO)
D-glucose  (EXP,ISO)
DDE  (ISO)
deoxypodophyllotoxin  (EXP,ISO)
dexamethasone  (EXP,ISO)
dextran sulfate  (ISO)
diarsenic trioxide  (ISO)
dichloroacetic acid  (ISO)
dicrotophos  (EXP)
diethyl maleate  (ISO)
Diosbulbin B  (ISO)
diosgenin  (EXP)
dioxygen  (EXP)
dorsomorphin  (EXP,ISO)
doxorubicin  (EXP)
duvoglustat  (ISO)
Elemicin  (ISO)
endosulfan  (ISO)
epoxiconazole  (ISO)
erlotinib hydrochloride  (EXP)
erythromycin A  (ISO)
ethanol  (EXP,ISO)
ethyl methanesulfonate  (EXP)
fenofibrate  (EXP,ISO)
fipronil  (ISO)
flavonoids  (ISO)
fluoxetine  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
fructose  (EXP,ISO)
furan  (ISO)
gadolinium atom  (EXP)
gadolinium trichloride  (EXP,ISO)
Ganoderic acid A  (EXP,ISO)
Gastrodin  (ISO)
gentamycin  (ISO)
Geraniin  (ISO)
geraniol  (ISO)
glafenine  (ISO)
glucose  (EXP,ISO)
glycine betaine  (ISO)
glyphosate  (ISO)
gold atom  (EXP)
gold(0)  (EXP)
guggulsterone  (ISO)
GW 4064  (EXP)
hexadecanoic acid  (EXP,ISO)
Honokiol  (ISO)
hydrogen peroxide  (EXP,ISO)
indometacin  (EXP,ISO)
irinotecan  (EXP)
isoprenaline  (ISO)
isosilybin  (EXP)
isotretinoin  (EXP)
ivermectin  (EXP,ISO)
L-ethionine  (ISO)
L-methionine  (ISO)
lead diacetate  (ISO)
linoleic acid  (ISO)
lipopolysaccharide  (ISO)
liraglutide  (ISO)
lithocholic acid  (ISO)
lovastatin  (ISO)
mangiferin  (ISO)
metformin  (EXP,ISO)
methapyrilene  (EXP,ISO)
methimazole  (ISO)
methoxychlor  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (ISO)
metronidazole  (ISO)
miconazole  (ISO)
microcystin-LR  (ISO)
monocrotophos  (ISO)
monosodium L-glutamate  (ISO)
myriocin  (ISO)
N-ethyl-N-nitrosourea  (ISO)
N-nitrosodiethylamine  (ISO)
naringin  (ISO)
nefazodone  (ISO)
neomycin  (ISO)
niclosamide  (EXP)
nicotinamide  (EXP,ISO)
nicotine  (ISO)
nilotinib  (EXP)
nimesulide  (ISO)
nordihydroguaiaretic acid  (ISO)
obeticholic acid  (EXP)
olanzapine  (ISO)
olaparib  (ISO)
oleic acid  (EXP)
omeprazole  (ISO)
orlistat  (EXP)
oxaliplatin  (ISO)
ozone  (EXP,ISO)
p-tert-Amylphenol  (ISO)
Pachymic acid  (EXP)
paracetamol  (ISO)
paraquat  (ISO)
PD 0325901  (ISO)
penconazole  (ISO)
perfluorobutanesulfonic acid  (ISO)
perfluorobutyric acid  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP,ISO)
phenformin  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
platycodin D  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
propamocarb  (ISO)
protein kinase inhibitor  (EXP)
puerarin  (ISO)
pyruvic acid  (EXP)
quercetin  (EXP,ISO)
quinacrine  (EXP)
rac-lactic acid  (EXP)
raffinose  (EXP,ISO)
raspberry ketone  (ISO)
resveratrol  (EXP,ISO)
rifampicin  (ISO)
rimonabant  (ISO)
rosiglitazone  (ISO)
rotenone  (ISO)
rubimaillin  (EXP)
ruthenium red  (ISO)
S-allylcysteine  (EXP)
SB 431542  (EXP)
scopoletin  (ISO)
sertraline  (EXP)
silibinin  (EXP,ISO)
sirtinol  (EXP)
sodium arsenite  (ISO)
splitomicin  (EXP)
steviol  (ISO)
streptozocin  (ISO)
sucrose  (ISO)
sulindac  (EXP)
sunitinib  (EXP)
taurine  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
tetrathiomolybdate(2-)  (ISO)
thapsigargin  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
trametinib  (EXP)
trans-caffeic acid  (EXP)
triacsin C  (ISO)
triazines  (ISO)
tributylstannane  (ISO)
Tributyltin oxide  (ISO)
trichloroethene  (ISO)
triclocarban  (ISO)
triolein  (ISO)
triphenyl phosphate  (ISO)
Triptolide  (ISO)
trovafloxacin  (ISO)
tunicamycin  (EXP)
urethane  (EXP)
ursolic acid  (EXP)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vanillic acid  (EXP)
vemurafenib  (EXP)
vinclozolin  (ISO)
WIN 55212-2  (EXP)
withaferin A  (ISO)
zidovudine  (EXP)
zinc atom  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
actin cytoskeleton  (IDA)
cytoplasm  (IEA)
cytosol  (IDA,IEA,ISO,ISS,TAS)
fibrillar center  (IDA)
mitochondrion  (IBA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Fermented rice bran supplementation mitigates metabolic syndrome in stroke-prone spontaneously hypertensive rats. Alauddin M, etal., BMC Complement Altern Med. 2016 Nov 8;16(1):442. doi: 10.1186/s12906-016-1427-z.
2. [Biological-molecular trend in psychiatry] Bilikiewicz A Pol Tyg Lek 1978 Jun 26;33(26):1046-50.
3. The cytoskeleton in 'couch potato-ism': Insights from a murine model of impaired actin dynamics. Gertz K, etal., Exp Neurol. 2018 Aug;306:34-44. doi: 10.1016/j.expneurol.2018.04.004. Epub 2018 Apr 21.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
6. Vestnik khirurgii imeni I. I. Grekova Kuts NL, etal., Vestn Khir Im I I Grek 1978 Nov;121(11):88-9.
7. Therapeutic Effect of Gypenosides on Nonalcoholic Steatohepatitis via Regulating Hepatic Lipogenesis and Fatty Acid Oxidation. Li H, etal., Biol Pharm Bull. 2017;40(5):650-657. doi: 10.1248/bpb.b16-00942.
8. Fatty acid synthase and the lipogenic phenotype in cancer pathogenesis. Menendez JA and Lupu R, Nat Rev Cancer. 2007 Oct;7(10):763-77.
9. Effect of cold acclimation on brown adipose tissue fatty acid synthesis in rats adapted to a high-protein, carbohydrate-free diet. Moura MA, etal., Metabolism. 2001 Dec;50(12):1493-8.
10. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
11. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
12. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
13. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
14. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
15. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
16. Reversal of diet-induced hepatic steatosis and hepatic insulin resistance by antisense oligonucleotide inhibitors of acetyl-CoA carboxylases 1 and 2. Savage DB, etal., J Clin Invest. 2006 Mar;116(3):817-24. Epub 2006 Feb 16.
17. Effect of Creosote Bush-Derived NDGA on Expression of Genes Involved in Lipid Metabolism in Liver of High-Fructose Fed Rats: Relevance to NDGA Amelioration of Hypertriglyceridemia and Hepatic Steatosis. Zhang H, etal., PLoS One. 2015 Sep 22;10(9):e0138203. doi: 10.1371/journal.pone.0138203. eCollection 2015.
Additional References at PubMed
PMID:2900138   PMID:2900140   PMID:2906852   PMID:7732023   PMID:7905825   PMID:7907095   PMID:7915280   PMID:8944226   PMID:9530626   PMID:10677481   PMID:10737800   PMID:11052978  
PMID:12360400   PMID:12477932   PMID:12810950   PMID:14643797   PMID:14744259   PMID:15302935   PMID:15333468   PMID:15607423   PMID:16169070   PMID:16326698   PMID:16698035   PMID:16713569  
PMID:16794074   PMID:16806233   PMID:17081983   PMID:17353931   PMID:17372234   PMID:17521700   PMID:17620599   PMID:17631500   PMID:18031993   PMID:18056116   PMID:18303054   PMID:18452305  
PMID:18455495   PMID:18480843   PMID:18487259   PMID:18614941   PMID:18614968   PMID:18660489   PMID:18678647   PMID:18996102   PMID:19061860   PMID:19343720   PMID:19380743   PMID:19543203  
PMID:19710915   PMID:19720090   PMID:19723093   PMID:19738201   PMID:19759019   PMID:19842072   PMID:19846279   PMID:19913121   PMID:20139635   PMID:20379614   PMID:20431927   PMID:20457939  
PMID:20562859   PMID:20602615   PMID:20628086   PMID:20877624   PMID:20952656   PMID:20965718   PMID:21344388   PMID:21471234   PMID:21532586   PMID:21638027   PMID:21642987   PMID:21726077  
PMID:21873635   PMID:22238651   PMID:22268729   PMID:22586326   PMID:22658674   PMID:22863883   PMID:22939629   PMID:23000302   PMID:23181366   PMID:23376485   PMID:23383273   PMID:23455922  
PMID:23535730   PMID:23886516   PMID:24457600   PMID:24565757   PMID:24797263   PMID:24798327   PMID:24924473   PMID:24981860   PMID:24999842   PMID:25099943   PMID:25192599   PMID:25246709  
PMID:25315684   PMID:25921289   PMID:26186194   PMID:26344197   PMID:26362536   PMID:26452058   PMID:26496610   PMID:26725010   PMID:26972000   PMID:26976583   PMID:27182664   PMID:27499296  
PMID:27684187   PMID:27693630   PMID:27983949   PMID:28081256   PMID:28290443   PMID:28514442   PMID:28515276   PMID:28611215   PMID:28700943   PMID:28718761   PMID:28768177   PMID:29056512  
PMID:29117863   PMID:29197582   PMID:29343429   PMID:29467282   PMID:29485247   PMID:29507755   PMID:29509190   PMID:29540532   PMID:29615496   PMID:29676528   PMID:29772612   PMID:29899443  
PMID:29955894   PMID:30021884   PMID:30224337   PMID:30257991   PMID:30349055   PMID:30455355   PMID:30463901   PMID:30496542   PMID:30575818   PMID:30948266   PMID:30997501   PMID:31091453  
PMID:31152661   PMID:31300519   PMID:31306022   PMID:31325544   PMID:31452512   PMID:31586073   PMID:31620119   PMID:31778310   PMID:31980649   PMID:31995728   PMID:32236577   PMID:32239614  
PMID:32296183   PMID:32513696   PMID:32529326   PMID:32687490   PMID:32694731   PMID:32707033   PMID:32941674   PMID:32989298   PMID:33005030   PMID:33239621   PMID:33417871   PMID:33462405  
PMID:33499275   PMID:33545068   PMID:33567341   PMID:33729478   PMID:33742100   PMID:33853758   PMID:33916271   PMID:33961781   PMID:34011540   PMID:34128473   PMID:34153683   PMID:34244565  
PMID:34299191   PMID:34329467   PMID:34373451   PMID:34575972   PMID:34635855   PMID:34638806   PMID:34709266   PMID:34709727   PMID:34718347   PMID:34795231   PMID:35031058   PMID:35032548  
PMID:35122331   PMID:35182466   PMID:35198878   PMID:35256949   PMID:35446349   PMID:35483524   PMID:35509820   PMID:35563538   PMID:35634673   PMID:35654790   PMID:35748872   PMID:35819319  
PMID:35831314   PMID:35844135   PMID:35944360   PMID:36095012   PMID:36114006   PMID:36215168   PMID:36217030   PMID:36232890   PMID:36282215   PMID:36328987   PMID:36376293   PMID:36398858  
PMID:36410440   PMID:36607556   PMID:36779422   PMID:36931259   PMID:36972768   PMID:36976490   PMID:37536630  


Genomics

Comparative Map Data
ACACA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381737,084,992 - 37,406,836 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1737,084,992 - 37,406,836 (-)EnsemblGRCh38hg38GRCh38
GRCh371735,441,927 - 35,766,927 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361732,516,040 - 32,841,015 (-)NCBINCBI36Build 36hg18NCBI36
Build 341732,516,039 - 32,841,015NCBI
Celera1732,264,387 - 32,589,361 (-)NCBICelera
Cytogenetic Map17q12NCBI
HuRef1731,594,734 - 31,704,859 (-)NCBIHuRef
HuRef1731,378,027 - 31,583,939 (-)NCBIHuRef
CHM1_11735,476,555 - 35,798,374 (-)NCBICHM1_1
T2T-CHM13v2.01738,071,975 - 38,396,996 (-)NCBIT2T-CHM13v2.0
Acaca
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391184,020,461 - 84,292,477 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1184,020,498 - 84,292,477 (+)EnsemblGRCm39 Ensembl
GRCm381184,129,635 - 84,401,651 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1184,129,672 - 84,401,651 (+)EnsemblGRCm38mm10GRCm38
MGSCv371184,008,940 - 84,215,153 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361184,011,659 - 84,215,878 (+)NCBIMGSCv36mm8
Celera1193,804,708 - 94,012,980 (+)NCBICelera
Cytogenetic Map11CNCBI
cM Map1151.29NCBI
Acaca
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21069,014,261 - 69,276,453 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1069,014,170 - 69,276,457 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1073,702,781 - 73,894,445 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01073,207,804 - 73,399,466 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01068,672,215 - 68,863,878 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01071,519,392 - 71,719,910 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1071,536,533 - 71,719,910 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01071,431,885 - 71,630,271 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41072,483,772 - 72,677,134 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11072,498,141 - 72,691,504 (+)NCBI
Celera1068,011,070 - 68,201,435 (+)NCBICelera
Cytogenetic Map10q26NCBI
Acaca
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955451600,254 - 909,892 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955451679,033 - 909,892 (+)NCBIChiLan1.0ChiLan1.0
ACACA
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan11729,230,527 - 29,559,723 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01719,670,114 - 19,998,903 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11719,969,199 - 20,297,651 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1719,969,205 - 20,297,651 (+)Ensemblpanpan1.1panPan2
ACACA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1936,904,204 - 37,188,096 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl936,905,293 - 37,187,892 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha936,128,994 - 36,412,715 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0937,714,414 - 37,998,482 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl937,714,417 - 37,998,015 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1936,495,840 - 36,779,686 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0936,783,386 - 37,067,528 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0936,870,310 - 37,154,200 (-)NCBIUU_Cfam_GSD_1.0
Acaca
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560235,883,567 - 36,147,281 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936490927,769 - 1,191,481 (+)EnsemblSpeTri2.0
SpeTri2.0NW_004936490927,769 - 1,191,483 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ACACA
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1238,581,457 - 38,824,712 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11238,580,916 - 38,875,067 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21240,200,228 - 40,401,426 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ACACA
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11630,374,166 - 30,704,635 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1630,452,343 - 30,705,004 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660771,098,931 - 1,432,102 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Acaca
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248714,105,067 - 4,412,325 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248714,103,014 - 4,364,690 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ACACA
176 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 copy number gain See cases [RCV000050957] Chr17:36449220..68170214 [GRCh38]
Chr17:48563237..65936105 [GRCh37]
Chr17:45918236..63677950 [NCBI36]
Chr17:17q21.33-24.2		 pathogenic
NM_198834.2(ACACA):c.4932+788A>T single nucleotide variant Lung cancer [RCV000100441] Chr17:37180413 [GRCh38]
Chr17:35537354 [GRCh37]
Chr17:17q12		 uncertain significance
NM_198834.2(ACACA):c.3246+328A>T single nucleotide variant Lung cancer [RCV000100442] Chr17:37234647 [GRCh38]
Chr17:35591562 [GRCh37]
Chr17:17q12		 uncertain significance
NM_198834.2(ACACA):c.38+5810A>T single nucleotide variant Lung cancer [RCV000100443] Chr17:37400452 [GRCh38]
Chr17:35760542 [GRCh37]
Chr17:17q12		 uncertain significance
GRCh37/hg19 17q12(chr17:34508117-36248918)x3 copy number gain See cases [RCV000050286] Chr17:34508117..36248918 [GRCh37]
Chr17:31474518..33323031 [NCBI36]
Chr17:17q12		 pathogenic|conflicting data from submitters
GRCh37/hg19 17q12(chr17:34856055-36248918)x1 copy number loss See cases [RCV000050449] Chr17:34856055..36248918 [GRCh37]
Chr17:31930168..33323031 [NCBI36]
Chr17:17q12		 pathogenic
GRCh38/hg38 17q12(chr17:36500215-37889296)x3 copy number gain See cases [RCV000050448] Chr17:36500215..37889296 [GRCh38]
Chr17:34856055..36248918 [GRCh37]
Chr17:31930168..33323031 [NCBI36]
Chr17:17q12		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
GRCh37/hg19 17q12(chr17:34611352-36248918)x3 copy number gain See cases [RCV000051076] Chr17:34611352..36248918 [GRCh37]
Chr17:31635465..33323031 [NCBI36]
Chr17:17q12		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
GRCh38/hg38 17q12(chr17:36357258-37889296)x1 copy number loss See cases [RCV000051077] Chr17:36357258..37889296 [GRCh38]
Chr17:34611352..36248918 [GRCh37]
Chr17:31635465..33323031 [NCBI36]
Chr17:17q12		 pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3		 pathogenic
GRCh38/hg38 17q12(chr17:36422657-37890225)x1 copy number loss See cases [RCV000054376] Chr17:36422657..37890225 [GRCh38]
Chr17:34768966..36263019 [GRCh37]
Chr17:31843079..33373530 [NCBI36]
Chr17:17q12		 pathogenic
GRCh38/hg38 17q12(chr17:36493974-37890225)x1 copy number loss See cases [RCV000054378] Chr17:36493974..37890225 [GRCh38]
Chr17:34849818..36263019 [GRCh37]
Chr17:31923931..33346418 [NCBI36]
Chr17:17q12		 pathogenic
GRCh38/hg38 17q12(chr17:36500015-37889437)x3 copy number gain See cases [RCV000054380] Chr17:36500015..37889437 [GRCh38]
Chr17:34855855..36249059 [GRCh37]
Chr17:31929968..33323172 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34855855-36249059)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054381]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054381]|See cases [RCV000054381] Chr17:34855855..36249059 [GRCh37]
Chr17:31929968..33323172 [NCBI36]
Chr17:17q12		 pathogenic
NM_198837.1(ACACA):c.5818C>T (p.Pro1940Ser) single nucleotide variant Malignant melanoma [RCV000071428] Chr17:37122566 [GRCh38]
Chr17:35479488 [GRCh37]
Chr17:32553601 [NCBI36]
Chr17:17q12		 not provided
NM_198837.1(ACACA):c.5817C>A (p.Ile1939=) single nucleotide variant Malignant melanoma [RCV000071429] Chr17:37122567 [GRCh38]
Chr17:35479489 [GRCh37]
Chr17:32553602 [NCBI36]
Chr17:17q12		 not provided
GRCh37/hg19 17q12(chr17:34842544-36104875)x3 copy number gain not provided [RCV002292965] Chr17:34842544..36104875 [GRCh37]
Chr17:17q12		 pathogenic
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1		 pathogenic
GRCh37/hg19 17q12(chr17:34817422-36243028) copy number gain Positional foot deformity [RCV001291945] Chr17:34817422..36243028 [GRCh37]
Chr17:17q12		 pathogenic
NM_198834.3(ACACA):c.455del (p.Asn152fs) deletion Acetyl-CoA: carboxylase deficiency [RCV001331953] Chr17:37284854 [GRCh38]
Chr17:35641755 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34450405-36248918)x1 copy number loss See cases [RCV000133661] Chr17:34450405..36248918 [GRCh37]
Chr17:31474518..33323031 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:35076189-36248926)x1 copy number loss See cases [RCV000134125] Chr17:35076189..36248926 [GRCh37]
Chr17:32150302..33323039 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34508117-36248918)x3 copy number gain See cases [RCV000148166] Chr17:34508117..36248918 [GRCh37]
Chr17:31474518..33323031 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34817422-36188700)x1 copy number loss See cases [RCV000137917] Chr17:34817422..36188700 [GRCh37]
Chr17:31891535..33262813 [NCBI36]
Chr17:17q12		 pathogenic
GRCh38/hg38 17q12(chr17:36446545-38225796)x1 copy number loss See cases [RCV000137918] Chr17:36446545..38225796 [GRCh38]
Chr17:34817422..36263019 [GRCh37]
Chr17:31891535..33635633 [NCBI36]
Chr17:17q12		 pathogenic
GRCh38/hg38 17q12(chr17:36357258-38225796)x3 copy number gain See cases [RCV000138816] Chr17:36357258..38225796 [GRCh38]
Chr17:34611352..36263019 [GRCh37]
Chr17:31635465..33635633 [NCBI36]
Chr17:17q12		 likely pathogenic
GRCh38/hg38 17q12(chr17:36500465-37889304)x1 copy number loss See cases [RCV000138632] Chr17:36500465..37889304 [GRCh38]
Chr17:34856305..36248926 [GRCh37]
Chr17:31930418..33323039 [NCBI36]
Chr17:17q12		 pathogenic
GRCh38/hg38 17q12(chr17:36461608-37889296)x3 copy number gain See cases [RCV000138608] Chr17:36461608..37889296 [GRCh38]
Chr17:34817422..36248918 [GRCh37]
Chr17:31891535..33323031 [NCBI36]
Chr17:17q12		 likely pathogenic|uncertain significance
GRCh37/hg19 17q12(chr17:34817422-36248918)x1 copy number loss See cases [RCV000138609] Chr17:34817422..36248918 [GRCh37]
Chr17:31891535..33323031 [NCBI36]
Chr17:17q12		 pathogenic|conflicting data from submitters
GRCh37/hg19 17q12(chr17:34360168-36248859)x1 copy number loss See cases [RCV000140228] Chr17:34360168..36248859 [GRCh37]
Chr17:31384281..33322972 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34856055-36248859)x3 copy number gain See cases [RCV000141116] Chr17:34856055..36248859 [GRCh37]
Chr17:31930168..33322972 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34856055-36248859)x1 copy number loss See cases [RCV000141117] Chr17:34856055..36248859 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822466-36393628)x1 copy number loss See cases [RCV000142004] Chr17:34822466..36393628 [GRCh37]
Chr17:31896579..33647435 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34437482-36244358)x3 copy number gain See cases [RCV000141832] Chr17:34437482..36244358 [GRCh37]
Chr17:31461595..33318471 [NCBI36]
Chr17:17q12		 likely pathogenic
GRCh38/hg38 17q12(chr17:36566143-37808105)x3 copy number gain See cases [RCV000141558] Chr17:36566143..37808105 [GRCh38]
Chr17:34817452..36168075 [GRCh37]
Chr17:31891565..33242188 [NCBI36]
Chr17:17q12		 uncertain significance
GRCh37/hg19 17q12(chr17:34822466-36307773)x1 copy number loss See cases [RCV000142028] Chr17:34822466..36307773 [GRCh37]
Chr17:31896579..33337163 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36350005)x3 copy number gain See cases [RCV000142072] Chr17:34822465..36350005 [GRCh37]
Chr17:31896578..33337163 [NCBI36]
Chr17:17q12		 likely pathogenic
GRCh37/hg19 17q12(chr17:34822466-36283612)x1 copy number loss See cases [RCV000142090] Chr17:34822466..36283612 [GRCh37]
Chr17:31896579..33337163 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822466-36316161)x1 copy number loss See cases [RCV000142104] Chr17:34822466..36316161 [GRCh37]
Chr17:31896579..33337163 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36283807)x1 copy number loss See cases [RCV000142180] Chr17:34822465..36283807 [GRCh37]
Chr17:31896578..33337163 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36283612)x3 copy number gain See cases [RCV000143663] Chr17:34822465..36283612 [GRCh37]
Chr17:31896578..33337163 [NCBI36]
Chr17:17q12		 likely pathogenic
GRCh38/hg38 17q12(chr17:36357258-37889296)x1 copy number loss See cases [RCV000148256] Chr17:36357258..37889296 [GRCh38]
Chr17:34611352..36248918 [GRCh37]
Chr17:31635465..33323031 [NCBI36]
Chr17:17q12		 pathogenic
GRCh38/hg38 17q12(chr17:36500215-37889296)x1 copy number loss See cases [RCV000148120] Chr17:36500215..37889296 [GRCh38]
Chr17:34856055..36248918 [GRCh37]
Chr17:31930168..33323031 [NCBI36]
Chr17:17q12		 pathogenic
GRCh38/hg38 17q12(chr17:36357258-37889296)x3 copy number gain See cases [RCV000148124] Chr17:36357258..37889296 [GRCh38]
Chr17:34611352..36248918 [GRCh37]
Chr17:31635465..33323031 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34856055-36248918)x3 copy number gain See cases [RCV000148172] Chr17:34856055..36248918 [GRCh37]
Chr17:31930168..33323031 [NCBI36]
Chr17:17q12		 pathogenic
NC_000017.10:g.(34360227_34437475)_(36214026_36473024)del deletion Chromosome 17q12 deletion syndrome [RCV000191150] Chr17:34437475..36214026 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34508117-36173763)x1 copy number loss See cases [RCV000054375] Chr17:34508117..36173763 [GRCh37]
Chr17:31474518..33247876 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34849849-36151346)x1 copy number loss See cases [RCV000240223] Chr17:34849849..36151346 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34899836-36177728)x1 copy number loss See cases [RCV000051228] Chr17:34899836..36177728 [GRCh37]
Chr17:31973949..33251841 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34310998-36297053)x3 copy number gain See cases [RCV000051912] Chr17:34310998..36297053 [GRCh37]
Chr17:31335111..33373530 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34360168-36209228)x3 copy number gain See cases [RCV000051914] Chr17:34360168..36209228 [GRCh37]
Chr17:31384281..33283341 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34815184-36209228)x3 copy number gain See cases [RCV000051915] Chr17:34815184..36209228 [GRCh37]
Chr17:31889297..33283341 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34817422-36173763)x3 copy number gain See cases [RCV000051916] Chr17:34817422..36173763 [GRCh37]
Chr17:31891535..33247876 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34817422-36168104)x1 copy number loss See cases [RCV000054377] Chr17:34817422..36168104 [GRCh37]
Chr17:31891535..33242217 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34851537-36173763)x1 copy number loss See cases [RCV000054379] Chr17:34851537..36173763 [GRCh37]
Chr17:31925650..33247876 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34899836-36224189)x1 copy number loss See cases [RCV000054382] Chr17:34899836..36224189 [GRCh37]
Chr17:31973949..33298302 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34815551-36244358)x1 copy number loss See cases [RCV000515600] Chr17:34815551..36244358 [GRCh37]
Chr17:17q12		 pathogenic
Single allele duplication Autism spectrum disorder [RCV000225391] Chr17:34815551..36249800 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic
GRCh37/hg19 17q12(chr17:34815551-36220373)x3 copy number gain Premature ovarian failure [RCV000225163] Chr17:34815551..36220373 [GRCh37]
Chr17:17q12		 uncertain significance
GRCh37/hg19 17q12(chr17:34849849-36151346)x3 copy number gain See cases [RCV000240094] Chr17:34849849..36151346 [GRCh37]
Chr17:17q12		 pathogenic
NM_198834.3(ACACA):c.814C>T (p.Gln272Ter) single nucleotide variant not provided [RCV000592667] Chr17:37276038 [GRCh38]
Chr17:35632931 [GRCh37]
Chr17:17q12		 uncertain significance
NM_198834.3(ACACA):c.6020C>T (p.Thr2007Ile) single nucleotide variant not provided [RCV000585528] Chr17:37125719 [GRCh38]
Chr17:35482640 [GRCh37]
Chr17:17q12		 uncertain significance
GRCh37/hg19 17q12(chr17:34815072-36192492)x1 deletion Chromosome 17q12 deletion syndrome [RCV000416291] Chr17:34815072..36192492 [GRCh37]
Chr17:17q12		 pathogenic|uncertain significance
GRCh37/hg19 17q12(chr17:34822465-36307773)x3 copy number gain See cases [RCV000449357] Chr17:34822465..36307773 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36351919)x3 copy number gain See cases [RCV000449434] Chr17:34822465..36351919 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34815551-36208392)x1 copy number loss VATER association [RCV000522672] Chr17:34815551..36208392 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34849849-36151287)x3 copy number gain See cases [RCV000446641] Chr17:34849849..36151287 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36283612)x1 copy number loss See cases [RCV000447417] Chr17:34822465..36283612 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:35588186-35802087)x3 copy number gain See cases [RCV000448902] Chr17:35588186..35802087 [GRCh37]
Chr17:17q12		 uncertain significance
GRCh37/hg19 17q12(chr17:34822465-36283807)x1 copy number loss See cases [RCV000448533] Chr17:34822465..36283807 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34425362-36410559)x3 copy number gain See cases [RCV000447719] Chr17:34425362..36410559 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36244358)x3 copy number gain See cases [RCV000512116] Chr17:34822465..36244358 [GRCh37]
Chr17:17q12		 likely pathogenic
GRCh37/hg19 17q12(chr17:34822465-36300630)x1 copy number loss See cases [RCV000510401] Chr17:34822465..36300630 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822466-36244358)x1 copy number loss See cases [RCV000510257] Chr17:34822466..36244358 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34437482-36404555)x3 copy number gain See cases [RCV000510217] Chr17:34437482..36404555 [GRCh37]
Chr17:17q12		 likely pathogenic
GRCh37/hg19 17q12(chr17:34822465-36316161)x1 copy number loss See cases [RCV000510588] Chr17:34822465..36316161 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822467-36307773)x1 copy number loss See cases [RCV000511448] Chr17:34822467..36307773 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34437482-36350584)x3 copy number gain See cases [RCV000511415] Chr17:34437482..36350584 [GRCh37]
Chr17:17q12		 likely pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36410559)x3 copy number gain See cases [RCV000511856] Chr17:34822465..36410559 [GRCh37]
Chr17:17q12		 likely pathogenic
GRCh37/hg19 17q12(chr17:34822466-36300466)x1 copy number loss See cases [RCV000511202] Chr17:34822466..36300466 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36397323)x1 copy number loss See cases [RCV000511069] Chr17:34822465..36397323 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36225988)x3 copy number gain See cases [RCV000511229] Chr17:34822465..36225988 [GRCh37]
Chr17:17q12		 likely pathogenic
GRCh37/hg19 17q12(chr17:34822466-36404136)x1 copy number loss See cases [RCV000511092] Chr17:34822466..36404136 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822466-36351934)x1 copy number loss See cases [RCV000510732] Chr17:34822466..36351934 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34447113-36283612)x1 copy number loss See cases [RCV000510761] Chr17:34447113..36283612 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34475679-36283612)x1 copy number loss See cases [RCV000510867] Chr17:34475679..36283612 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36244358)x1 copy number loss See cases [RCV000511282] Chr17:34822465..36244358 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36316144)x1 copy number loss See cases [RCV000510825] Chr17:34822465..36316144 [GRCh37]
Chr17:17q12		 pathogenic
NM_198834.3(ACACA):c.3952C>G (p.Pro1318Ala) single nucleotide variant Inborn genetic diseases [RCV003255073] Chr17:37205869 [GRCh38]
Chr17:35562783 [GRCh37]
Chr17:17q12		 uncertain significance
GRCh37/hg19 17q12(chr17:34822465-36307773)x1 copy number loss See cases [RCV000512367] Chr17:34822465..36307773 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822466-36283807)x1 copy number loss See cases [RCV000512433] Chr17:34822466..36283807 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17q12(chr17:34611352-36248918) copy number gain Elevated circulating creatine kinase concentration [RCV000626519] Chr17:34611352..36248918 [GRCh37]
Chr17:17q12		 pathogenic
NM_198834.3(ACACA):c.4777-7C>G single nucleotide variant not provided [RCV000676920] Chr17:37181363 [GRCh38]
Chr17:35538304 [GRCh37]
Chr17:17q12		 benign
NM_198834.3(ACACA):c.4777-8dup duplication not provided [RCV000676921] Chr17:37181363..37181364 [GRCh38]
Chr17:35538304..35538305 [GRCh37]
Chr17:17q12		 benign|likely benign
NM_198834.3(ACACA):c.3475-10T>C single nucleotide variant not provided [RCV000676922] Chr17:37223611 [GRCh38]
Chr17:35580532 [GRCh37]
Chr17:17q12		 benign|likely benign
NM_198834.3(ACACA):c.2082-10_2082-8dup duplication not provided [RCV000676924] Chr17:37248681..37248682 [GRCh38]
Chr17:35605605..35605606 [GRCh37]
Chr17:17q12		 benign|likely benign
NM_198834.3(ACACA):c.547C>A (p.Arg183=) single nucleotide variant not provided [RCV000676929] Chr17:37283330 [GRCh38]
Chr17:35640231 [GRCh37]
Chr17:17q12		 benign|likely benign
NM_198834.3(ACACA):c.6924G>A (p.Ala2308=) single nucleotide variant not provided [RCV000676918] Chr17:37089042 [GRCh38]
Chr17:35445977 [GRCh37]
Chr17:17q12		 benign|likely benign
NM_198834.3(ACACA):c.6444A>C (p.Arg2148=) single nucleotide variant not provided [RCV000676919] Chr17:37113096 [GRCh38]
Chr17:35470031 [GRCh37]
Chr17:17q12		 benign
NM_198834.3(ACACA):c.926A>G (p.Asn309Ser) single nucleotide variant not provided [RCV000676928] Chr17:37274275 [GRCh38]
Chr17:35631166 [GRCh37]
Chr17:17q12		 uncertain significance
NM_198834.3(ACACA):c.3122-6G>A single nucleotide variant not provided [RCV000676923] Chr17:37235105 [GRCh38]
Chr17:35592020 [GRCh37]
Chr17:17q12		 benign
NM_198834.3(ACACA):c.1923G>A (p.Gln641=) single nucleotide variant Acetyl-CoA: carboxylase deficiency [RCV001421020]|not provided [RCV000676925] Chr17:37252940 [GRCh38]
Chr17:35609866 [GRCh37]
Chr17:17q12		 benign
NM_198834.3(ACACA):c.999T>C (p.Asp333=) single nucleotide variant not provided [RCV000676927] Chr17:37274202 [GRCh38]
Chr17:35631093 [GRCh37]
Chr17:17q12		 likely benign
NM_198834.3(ACACA):c.1009-3A>C single nucleotide variant not provided [RCV000676926] Chr17:37270864 [GRCh38]
Chr17:35627755 [GRCh37]
Chr17:17q12		 likely benign
GRCh37/hg19 17q12(chr17:34425362-36283612)x3 copy number gain not provided [RCV000683920] Chr17:34425362..36283612 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34426244-36225988)x3 copy number gain not provided [RCV000683921] Chr17:34426244..36225988 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34475679-36311009)x1 copy number loss not provided [RCV000683922] Chr17:34475679..36311009 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34477385-36404555)x1 copy number loss not provided [RCV000683923] Chr17:34477385..36404555 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36244332)x3 copy number gain not provided [RCV000683924] Chr17:34822465..36244332 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36244358)x1 copy number loss not provided [RCV000683925] Chr17:34822465..36244358 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36283807)x1 copy number loss not provided [RCV000683927] Chr17:34822465..36283807 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36316161)x3 copy number gain not provided [RCV000683929] Chr17:34822465..36316161 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36351919)x3 copy number gain not provided [RCV000683930] Chr17:34822465..36351919 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36371146)x3 copy number gain not provided [RCV000683931] Chr17:34822465..36371146 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36404136)x1 copy number loss not provided [RCV000683932] Chr17:34822465..36404136 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36283612)x3 copy number gain not provided [RCV000683926] Chr17:34822465..36283612 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36307773)x1 copy number loss not provided [RCV000683928] Chr17:34822465..36307773 [GRCh37]
Chr17:17q12		 pathogenic
NC_000017.10:g.(?_34856670)_(35478412_?)del deletion Hyperphosphatasia with intellectual disability syndrome 5 [RCV000707810] Chr17:34856670..35478412 [GRCh37]
Chr17:17q12		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NC_000017.11:g.(?_36357256)_(37995300_?)del deletion Schizophrenia [RCV000754204] Chr17:36357256..37995300 [GRCh38]
Chr17:17q12		 pathogenic
NC_000017.11:g.(?_36143765)_(37995300_?)del deletion Autism [RCV000754203] Chr17:36143765..37995300 [GRCh38]
Chr17:17q12		 pathogenic
Single allele duplication Autism [RCV000754205] Chr17:36357256..37995300 [GRCh38]
Chr17:17q12		 likely pathogenic
NC_000017.11:g.(?_36446252)_(37887875_?)del deletion Autism [RCV000754206] Chr17:36446252..37887875 [GRCh38]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34812294-36272082)x3 copy number gain not provided [RCV000752026] Chr17:34812294..36272082 [GRCh37]
Chr17:17q12		 uncertain significance
GRCh37/hg19 17q12(chr17:34813067-36223325)x3 copy number gain not provided [RCV000752027] Chr17:34813067..36223325 [GRCh37]
Chr17:17q12		 uncertain significance
GRCh37/hg19 17q12(chr17:34815551-36244358)x1 copy number loss not provided [RCV000752028] Chr17:34815551..36244358 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34815551-36307189)x1 copy number loss not provided [RCV000752029] Chr17:34815551..36307189 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34848678-36194230) copy number gain Chromosome 17q12 duplication syndrome [RCV000767620] Chr17:34848678..36194230 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34819191-36104803) copy number gain Chromosome 17q12 duplication syndrome [RCV000767659] Chr17:34819191..36104803 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34437475-36214026) copy number gain Chromosome 17q12 duplication syndrome [RCV000767740] Chr17:34437475..36214026 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34842059-36214026) copy number gain Chromosome 17q12 duplication syndrome [RCV000767688] Chr17:34842059..36214026 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34819191-36194230) copy number loss Chromosome 17q12 deletion syndrome [RCV000767697] Chr17:34819191..36194230 [GRCh37]
Chr17:17q12		 pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787391] Chr17:34815172..36249799 [GRCh37]
Chr17:17q12		 uncertain significance
GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3 copy number gain not provided [RCV000846852] Chr17:21690653..38772647 [GRCh37]
Chr17:17p11.2-q21.2		 pathogenic
GRCh37/hg19 17q12(chr17:35711159-36244358)x3 copy number gain not provided [RCV000848888] Chr17:35711159..36244358 [GRCh37]
Chr17:17q12		 uncertain significance
NM_198834.3(ACACA):c.2449G>A (p.Ala817Thr) single nucleotide variant Inborn genetic diseases [RCV003272358] Chr17:37246837 [GRCh38]
Chr17:35603753 [GRCh37]
Chr17:17q12		 uncertain significance
NM_198834.3(ACACA):c.4057-5C>T single nucleotide variant not provided [RCV000996525] Chr17:37200488 [GRCh38]
Chr17:35557431 [GRCh37]
Chr17:17q12		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 17q12(chr17:35258617-35825367)x3 copy number gain not provided [RCV001006896] Chr17:35258617..35825367 [GRCh37]
Chr17:17q12		 uncertain significance
NM_198834.3(ACACA):c.4642G>A (p.Ala1548Thr) single nucleotide variant Acetyl-CoA: carboxylase deficiency [RCV001001309] Chr17:37188411 [GRCh38]
Chr17:35545351 [GRCh37]
Chr17:17q12		 uncertain significance
GRCh37/hg19 17q12(chr17:34815551-36244358)x3 copy number gain See cases [RCV001194546] Chr17:34815551..36244358 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:35588688-35818634)x3 copy number gain not provided [RCV001006897] Chr17:35588688..35818634 [GRCh37]
Chr17:17q12		 uncertain significance
GRCh37/hg19 17q12(chr17:34822465-36410559)x3 copy number gain not provided [RCV001259334] Chr17:34822465..36410559 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34815466-36249366)x3 copy number gain not provided [RCV001537910] Chr17:34815466..36249366 [GRCh37]
Chr17:17q12		 pathogenic
NM_198834.3(ACACA):c.3474+2TA[14] microsatellite Acetyl-CoA: carboxylase deficiency [RCV001331952] Chr17:37224966..37224967 [GRCh38]
Chr17:35581887..35581888 [GRCh37]
Chr17:17q12		 pathogenic
NM_198834.3(ACACA):c.6923C>T (p.Ala2308Val) single nucleotide variant Acetyl-CoA: carboxylase deficiency [RCV001331954] Chr17:37089043 [GRCh38]
Chr17:35445978 [GRCh37]
Chr17:17q12		 uncertain significance
GRCh37/hg19 17q12(chr17:34841190-35733119) copy number gain Autism with high cognitive abilities [RCV001291968] Chr17:34841190..35733119 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_198834.3(ACACA):c.541A>T (p.Met181Leu) single nucleotide variant Hereditary breast ovarian cancer syndrome [RCV001374522] Chr17:37283336 [GRCh38]
Chr17:35640237 [GRCh37]
Chr17:17q12		 uncertain significance
NM_198834.3(ACACA):c.3132C>G (p.Asp1044Glu) single nucleotide variant not provided [RCV001355217] Chr17:37235089 [GRCh38]
Chr17:35592004 [GRCh37]
Chr17:17q12		 uncertain significance
GRCh37/hg19 17q12(chr17:34437475-36243028) copy number gain Polyhydramnios [RCV001291974] Chr17:34437475..36243028 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34807069-36284994)x1 copy number loss Chromosome 17q12 deletion syndrome [RCV001801177] Chr17:34807069..36284994 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_198834.3(ACACA):c.2183A>G (p.Asn728Ser) single nucleotide variant Inborn genetic diseases [RCV003167045]|not provided [RCV001893812] Chr17:37248137 [GRCh38]
Chr17:35605061 [GRCh37]
Chr17:17q12		 uncertain significance
NM_198834.3(ACACA):c.364G>A (p.Val122Ile) single nucleotide variant not provided [RCV001825160] Chr17:37284945 [GRCh38]
Chr17:35641846 [GRCh37]
Chr17:17q12		 not provided
GRCh37/hg19 17q12(chr17:35580576-35818709)x3 copy number gain not provided [RCV001827872] Chr17:35580576..35818709 [GRCh37]
Chr17:17q12		 uncertain significance
GRCh38/hg38 17q12(chr17:36719878-37889304) copy number loss Diaphragmatic eventration [RCV001823057] Chr17:36719878..37889304 [GRCh38]
Chr17:17q12		 uncertain significance
NM_198834.3(ACACA):c.451G>A (p.Gly151Arg) single nucleotide variant not provided [RCV001880769] Chr17:37284858 [GRCh38]
Chr17:35641759 [GRCh37]
Chr17:17q12		 uncertain significance
NM_198834.3(ACACA):c.1662+5C>G single nucleotide variant not provided [RCV001997097] Chr17:37258207 [GRCh38]
Chr17:35615129 [GRCh37]
Chr17:17q12		 uncertain significance
NM_198834.3(ACACA):c.373G>A (p.Gly125Ser) single nucleotide variant not provided [RCV001883581] Chr17:37284936 [GRCh38]
Chr17:35641837 [GRCh37]
Chr17:17q12		 uncertain significance
NM_198834.3(ACACA):c.2971C>T (p.Arg991Trp) single nucleotide variant not provided [RCV001957482] Chr17:37242014 [GRCh38]
Chr17:35598930 [GRCh37]
Chr17:17q12		 uncertain significance
NM_198834.3(ACACA):c.6739A>T (p.Thr2247Ser) single nucleotide variant not provided [RCV001939018] Chr17:37097148 [GRCh38]
Chr17:35454083 [GRCh37]
Chr17:17q12		 uncertain significance
NM_198834.3(ACACA):c.609A>G (p.Ala203=) single nucleotide variant not provided [RCV002012296] Chr17:37283268 [GRCh38]
Chr17:35640169 [GRCh37]
Chr17:17q12		 uncertain significance
NC_000017.10:g.(?_34892951)_(36104875_?)del deletion Hyperphosphatasia with intellectual disability syndrome 5 [RCV001925612]|not provided [RCV001943312] Chr17:34892951..36104875 [GRCh37]
Chr17:17q12		 pathogenic|uncertain significance
NM_198834.3(ACACA):c.2163+16T>C single nucleotide variant not provided [RCV002129640] Chr17:37248577 [GRCh38]
Chr17:35605501 [GRCh37]
Chr17:17q12		 benign
NM_198834.3(ACACA):c.1977+19A>C single nucleotide variant not provided [RCV002186518] Chr17:37252867 [GRCh38]
Chr17:35609793 [GRCh37]
Chr17:17q12		 likely benign
NM_198834.3(ACACA):c.1500+19G>A single nucleotide variant not provided [RCV002129612] Chr17:37259341 [GRCh38]
Chr17:35616263 [GRCh37]
Chr17:17q12		 benign
NM_198834.3(ACACA):c.6634C>T (p.Leu2212=) single nucleotide variant not provided [RCV002124760] Chr17:37097916 [GRCh38]
Chr17:35454851 [GRCh37]
Chr17:17q12		 benign
NM_198834.3(ACACA):c.908G>A (p.Arg303His) single nucleotide variant not provided [RCV002116602] Chr17:37274293 [GRCh38]
Chr17:35631184 [GRCh37]
Chr17:17q12		 likely benign
NM_198834.3(ACACA):c.3483C>T (p.Ile1161=) single nucleotide variant not provided [RCV002114567] Chr17:37223593 [GRCh38]
Chr17:35580514 [GRCh37]
Chr17:17q12		 likely benign
NM_198834.3(ACACA):c.6576G>A (p.Glu2192=) single nucleotide variant not provided [RCV002195169] Chr17:37097974 [GRCh38]
Chr17:35454909 [GRCh37]
Chr17:17q12		 likely benign
NM_198834.3(ACACA):c.2749G>C (p.Asp917His) single nucleotide variant not provided [RCV002079871] Chr17:37243553 [GRCh38]
Chr17:35600469 [GRCh37]
Chr17:17q12		 benign
NM_198834.3(ACACA):c.6189= (p.Thr2063=) variation not provided [RCV002092255] Chr17:37121440 [GRCh38]
Chr17:35478362 [GRCh37]
Chr17:17q12		 benign
NM_198834.3(ACACA):c.4627T>C (p.Leu1543=) single nucleotide variant not provided [RCV002133185] Chr17:37188426 [GRCh38]
Chr17:35545366 [GRCh37]
Chr17:17q12		 likely benign
NM_198834.3(ACACA):c.5697G>C (p.Val1899=) single nucleotide variant not provided [RCV002185757] Chr17:37130201 [GRCh38]
Chr17:35487127 [GRCh37]
Chr17:17q12		 likely benign
NM_198834.3(ACACA):c.6041+7G>A single nucleotide variant not provided [RCV002092495] Chr17:37125691 [GRCh38]
Chr17:35482612 [GRCh37]
Chr17:17q12		 likely benign
NM_198834.3(ACACA):c.1120-19dup duplication not provided [RCV002153459] Chr17:37263912..37263913 [GRCh38]
Chr17:35620815..35620816 [GRCh37]
Chr17:17q12		 benign
NM_198834.3(ACACA):c.4666C>T (p.Leu1556=) single nucleotide variant not provided [RCV002195501] Chr17:37188387 [GRCh38]
Chr17:35545327 [GRCh37]
Chr17:17q12		 likely benign
NM_198834.3(ACACA):c.3567G>T (p.Val1189=) single nucleotide variant not provided [RCV002133430] Chr17:37221840 [GRCh38]
Chr17:35578761 [GRCh37]
Chr17:17q12		 likely benign
NM_198834.3(ACACA):c.6879A>G (p.Glu2293=) single nucleotide variant not provided [RCV002114982] Chr17:37097008 [GRCh38]
Chr17:35453943 [GRCh37]
Chr17:17q12		 likely benign
NM_198834.3(ACACA):c.2436C>T (p.Ala812=) single nucleotide variant not provided [RCV002171122] Chr17:37246850 [GRCh38]
Chr17:35603766 [GRCh37]
Chr17:17q12		 likely benign
NM_198834.3(ACACA):c.1563C>G (p.Pro521=) single nucleotide variant not provided [RCV002216680] Chr17:37258311 [GRCh38]
Chr17:35615233 [GRCh37]
Chr17:17q12		 likely benign
NM_198834.3(ACACA):c.1120-8T>C single nucleotide variant not provided [RCV002176350] Chr17:37263902 [GRCh38]
Chr17:35620805 [GRCh37]
Chr17:17q12		 benign
NM_198834.3(ACACA):c.1120-15C>T single nucleotide variant not provided [RCV002144504] Chr17:37263909 [GRCh38]
Chr17:35620812 [GRCh37]
Chr17:17q12		 likely benign
NM_198834.3(ACACA):c.1120-19del deletion not provided [RCV002101854] Chr17:37263913 [GRCh38]
Chr17:35620816 [GRCh37]
Chr17:17q12		 benign
NM_198834.3(ACACA):c.1878T>A (p.Thr626=) single nucleotide variant not provided [RCV002123525] Chr17:37252985 [GRCh38]
Chr17:35609911 [GRCh37]
Chr17:17q12		 likely benign
NM_198834.3(ACACA):c.5493C>G (p.Pro1831=) single nucleotide variant not provided [RCV002140237] Chr17:37151376 [GRCh38]
Chr17:35508301 [GRCh37]
Chr17:17q12		 likely benign
NM_198834.3(ACACA):c.5350-11G>A single nucleotide variant not provided [RCV002203314] Chr17:37155791 [GRCh38]
Chr17:35512713 [GRCh37]
Chr17:17q12		 benign
NM_198834.3(ACACA):c.4201-16T>C single nucleotide variant not provided [RCV002201842] Chr17:37192321 [GRCh38]
Chr17:35549262 [GRCh37]
Chr17:17q12		 benign
NM_198834.3(ACACA):c.3851+13G>A single nucleotide variant not provided [RCV002177940] Chr17:37207644 [GRCh38]
Chr17:35564558 [GRCh37]
Chr17:17q12		 benign
NM_198834.3(ACACA):c.721-16T>C single nucleotide variant not provided [RCV002098960] Chr17:37277130 [GRCh38]
Chr17:35634023 [GRCh37]
Chr17:17q12		 benign
NM_198834.3(ACACA):c.639G>A (p.Val213=) single nucleotide variant not provided [RCV002184490] Chr17:37277977 [GRCh38]
Chr17:35634870 [GRCh37]
Chr17:17q12		 likely benign
NM_198834.3(ACACA):c.4158+15C>G single nucleotide variant not provided [RCV002202741] Chr17:37200124 [GRCh38]
Chr17:35557067 [GRCh37]
Chr17:17q12		 likely benign
NC_000017.10:g.(?_34892951)_(36104875_?)dup duplication Hyperphosphatasia with intellectual disability syndrome 5 [RCV003122289]|not provided [RCV003111263] Chr17:34892951..36104875 [GRCh37]
Chr17:17q12		 uncertain significance
NM_198834.3(ACACA):c.4969G>A (p.Ala1657Thr) single nucleotide variant not provided [RCV003152565] Chr17:37179370 [GRCh38]
Chr17:35536311 [GRCh37]
Chr17:17q12		 uncertain significance
NM_198834.3(ACACA):c.6592C>T (p.Arg2198Trp) single nucleotide variant not provided [RCV003152566] Chr17:37097958 [GRCh38]
Chr17:35454893 [GRCh37]
Chr17:17q12		 uncertain significance
GRCh37/hg19 17q12(chr17:34463923-36410559) copy number loss Chromosome 17q12 deletion syndrome [RCV002280707] Chr17:34463923..36410559 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36410559) copy number loss Chromosome 17q12 deletion syndrome [RCV002280708] Chr17:34822465..36410559 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34842545-36293050) copy number loss HNF1B-related disorders [RCV003236721] Chr17:34842545..36293050 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36243781)x1 copy number loss See cases [RCV002287562] Chr17:34822465..36243781 [GRCh37]
Chr17:17q12		 pathogenic
NM_198834.3(ACACA):c.5686G>A (p.Gly1896Arg) single nucleotide variant Inborn genetic diseases [RCV003285885] Chr17:37130212 [GRCh38]
Chr17:35487138 [GRCh37]
Chr17:17q12		 uncertain significance
GRCh37/hg19 17q12(chr17:34822466-36404136)x1 copy number loss not provided [RCV002474493] Chr17:34822466..36404136 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34425363-36404555)x3 copy number gain not provided [RCV002472574] Chr17:34425363..36404555 [GRCh37]
Chr17:17q12		 pathogenic
NM_198834.3(ACACA):c.6641C>A (p.Pro2214His) single nucleotide variant Acetyl-CoA: carboxylase deficiency [RCV002323523] Chr17:37097909 [GRCh38]
Chr17:35454844 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_198834.3(ACACA):c.2623C>T (p.Arg875Trp) single nucleotide variant not provided [RCV002771254] Chr17:37244707 [GRCh38]
Chr17:35601623 [GRCh37]
Chr17:17q12		 likely benign
NM_198834.3(ACACA):c.3829C>T (p.Arg1277Trp) single nucleotide variant not provided [RCV002771415] Chr17:37207679 [GRCh38]
Chr17:35564593 [GRCh37]
Chr17:17q12		 uncertain significance
NM_198834.3(ACACA):c.5690G>A (p.Arg1897Gln) single nucleotide variant not provided [RCV002617269] Chr17:37130208 [GRCh38]
Chr17:35487134 [GRCh37]
Chr17:17q12		 uncertain significance
NM_198834.3(ACACA):c.3892C>A (p.Pro1298Thr) single nucleotide variant Inborn genetic diseases [RCV002772202] Chr17:37206839 [GRCh38]
Chr17:35563753 [GRCh37]
Chr17:17q12		 uncertain significance
NM_198834.3(ACACA):c.6566G>A (p.Gly2189Glu) single nucleotide variant not provided [RCV002771316] Chr17:37097984 [GRCh38]
Chr17:35454919 [GRCh37]
Chr17:17q12		 uncertain significance
NM_198834.3(ACACA):c.4643C>A (p.Ala1548Glu) single nucleotide variant Inborn genetic diseases [RCV002793600] Chr17:37188410 [GRCh38]
Chr17:35545350 [GRCh37]
Chr17:17q12		 uncertain significance
NM_198834.3(ACACA):c.6029T>C (p.Val2010Ala) single nucleotide variant not provided [RCV003032747] Chr17:37125710 [GRCh38]
Chr17:35482631 [GRCh37]
Chr17:17q12		 uncertain significance
NM_198834.3(ACACA):c.6213C>T (p.Asn2071=) single nucleotide variant not provided [RCV002616294] Chr17:37121416 [GRCh38]
Chr17:35478338 [GRCh37]
Chr17:17q12		 likely benign
NM_198834.3(ACACA):c.6526C>T (p.Arg2176Trp) single nucleotide variant Inborn genetic diseases [RCV002731701] Chr17:37111570 [GRCh38]
Chr17:35468505 [GRCh37]
Chr17:17q12		 uncertain significance
NM_198834.3(ACACA):c.3246+17A>G single nucleotide variant not provided [RCV002681910] Chr17:37234958 [GRCh38]
Chr17:35591873 [GRCh37]
Chr17:17q12		 likely benign
NM_198834.3(ACACA):c.6812A>G (p.Asn2271Ser) single nucleotide variant Inborn genetic diseases [RCV002945608] Chr17:37097075 [GRCh38]
Chr17:35454010 [GRCh37]
Chr17:17q12		 uncertain significance
NM_198834.3(ACACA):c.3475-6T>A single nucleotide variant not provided [RCV002885456] Chr17:37223607 [GRCh38]
Chr17:35580528 [GRCh37]
Chr17:17q12		 uncertain significance
NM_198834.3(ACACA):c.5284G>A (p.Gly1762Arg) single nucleotide variant Inborn genetic diseases [RCV002868636] Chr17:37161846 [GRCh38]
Chr17:35518760 [GRCh37]
Chr17:17q12		 uncertain significance
NM_198834.3(ACACA):c.1978-13T>G single nucleotide variant not provided [RCV002663067] Chr17:37252121 [GRCh38]
Chr17:35609047 [GRCh37]
Chr17:17q12		 likely benign
NM_198834.3(ACACA):c.3742A>G (p.Met1248Val) single nucleotide variant not provided [RCV002781512] Chr17:37207766 [GRCh38]
Chr17:35564680 [GRCh37]
Chr17:17q12		 benign
NM_198834.3(ACACA):c.4201-20dup duplication not provided [RCV002662728] Chr17:37192324..37192325 [GRCh38]
Chr17:35549265..35549266 [GRCh37]
Chr17:17q12		 benign
NM_198834.3(ACACA):c.3708-6A>G single nucleotide variant not provided [RCV002621354] Chr17:37207806 [GRCh38]
Chr17:35564720 [GRCh37]
Chr17:17q12		 likely benign
NM_198834.3(ACACA):c.2824A>G (p.Ser942Gly) single nucleotide variant Inborn genetic diseases [RCV002693154] Chr17:37243478 [GRCh38]
Chr17:35600394 [GRCh37]
Chr17:17q12		 uncertain significance
NM_198834.3(ACACA):c.1721T>G (p.Val574Gly) single nucleotide variant not provided [RCV003017910] Chr17:37257808 [GRCh38]
Chr17:35614730 [GRCh37]
Chr17:17q12		 uncertain significance
NM_198834.3(ACACA):c.503T>C (p.Val168Ala) single nucleotide variant Inborn genetic diseases [RCV002924141] Chr17:37283374 [GRCh38]
Chr17:35640275 [GRCh37]
Chr17:17q12		 uncertain significance
NM_198834.3(ACACA):c.1602C>T (p.His534=) single nucleotide variant not provided [RCV002795334] Chr17:37258272 [GRCh38]
Chr17:35615194 [GRCh37]
Chr17:17q12		 benign
NC_000017.10:g.35578763del deletion not provided [RCV003035472] Chr17:37221842 [GRCh38]
Chr17:35578763 [GRCh37]
Chr17:17q12		 uncertain significance
NM_198834.3(ACACA):c.420T>G (p.Ala140=) single nucleotide variant not provided [RCV002847908] Chr17:37284889 [GRCh38]
Chr17:35641790 [GRCh37]
Chr17:17q12		 likely benign
NM_198834.3(ACACA):c.6442C>T (p.Arg2148Ter) single nucleotide variant not provided [RCV002761020] Chr17:37113098 [GRCh38]
Chr17:35470033 [GRCh37]
Chr17:17q12		 uncertain significance
NM_198834.3(ACACA):c.3121+16A>G single nucleotide variant not provided [RCV002795348] Chr17:37240460 [GRCh38]
Chr17:35597376 [GRCh37]
Chr17:17q12		 likely benign
NM_198834.3(ACACA):c.3708-20G>A single nucleotide variant not provided [RCV002979510] Chr17:37207820 [GRCh38]
Chr17:35564734 [GRCh37]
Chr17:17q12		 likely benign
NM_198834.3(ACACA):c.475C>G (p.Leu159Val) single nucleotide variant not provided [RCV002639894] Chr17:37283402 [GRCh38]
Chr17:35640303 [GRCh37]
Chr17:17q12		 uncertain significance
NM_198834.3(ACACA):c.3683+15G>A single nucleotide variant not provided [RCV002570235] Chr17:37221709 [GRCh38]
Chr17:35578630 [GRCh37]
Chr17:17q12		 benign
NM_198834.3(ACACA):c.610+12G>A single nucleotide variant not provided [RCV002795676] Chr17:37283255 [GRCh38]
Chr17:35640156 [GRCh37]
Chr17:17q12		 likely benign
NM_198834.3(ACACA):c.1858A>G (p.Ile620Val) single nucleotide variant Inborn genetic diseases [RCV002799758] Chr17:37253005 [GRCh38]
Chr17:35609931 [GRCh37]
Chr17:17q12		 uncertain significance
NM_198834.3(ACACA):c.5945-13T>C single nucleotide variant not provided [RCV002790859] Chr17:37125807 [GRCh38]
Chr17:35482728 [GRCh37]
Chr17:17q12		 benign
NM_198834.3(ACACA):c.2958A>G (p.Ala986=) single nucleotide variant not provided [RCV002790856] Chr17:37242027 [GRCh38]
Chr17:35598943 [GRCh37]
Chr17:17q12		 likely benign
NM_198834.3(ACACA):c.6282C>T (p.Tyr2094=) single nucleotide variant not provided [RCV002597183] Chr17:37113258 [GRCh38]
Chr17:35470193 [GRCh37]
Chr17:17q12		 likely benign
NM_198834.3(ACACA):c.4076A>G (p.His1359Arg) single nucleotide variant not provided [RCV002805903] Chr17:37200464 [GRCh38]
Chr17:35557407 [GRCh37]
Chr17:17q12		 uncertain significance
NM_198834.3(ACACA):c.5665G>A (p.Gly1889Arg) single nucleotide variant not provided [RCV002933309] Chr17:37149878 [GRCh38]
Chr17:35506802 [GRCh37]
Chr17:17q12		 uncertain significance
NM_198834.3(ACACA):c.4713C>T (p.Asn1571=) single nucleotide variant not provided [RCV002596971] Chr17:37188340 [GRCh38]
Chr17:35545280 [GRCh37]
Chr17:17q12		 likely benign
NM_198834.3(ACACA):c.5578C>T (p.Arg1860Trp) single nucleotide variant Inborn genetic diseases [RCV002641618] Chr17:37149965 [GRCh38]
Chr17:35506889 [GRCh37]
Chr17:17q12		 uncertain significance
NM_198834.3(ACACA):c.5662G>A (p.Ala1888Thr) single nucleotide variant Inborn genetic diseases [RCV002916004] Chr17:37149881 [GRCh38]
Chr17:35506805 [GRCh37]
Chr17:17q12		 uncertain significance
NM_198834.3(ACACA):c.7028+20C>T single nucleotide variant not provided [RCV002805750] Chr17:37088918 [GRCh38]
Chr17:35445853 [GRCh37]
Chr17:17q12		 benign
NM_198834.3(ACACA):c.1329+7A>G single nucleotide variant not provided [RCV002575118] Chr17:37263678 [GRCh38]
Chr17:35620581 [GRCh37]
Chr17:17q12		 likely benign
NM_198834.3(ACACA):c.5447+20A>G single nucleotide variant not provided [RCV002576128] Chr17:37155663 [GRCh38]
Chr17:35512585 [GRCh37]
Chr17:17q12		 benign
NM_198834.3(ACACA):c.6189G>A (p.Thr2063=) single nucleotide variant not provided [RCV002917442] Chr17:37121440 [GRCh38]
Chr17:35478362 [GRCh37]
Chr17:17q12		 likely benign
NM_198834.3(ACACA):c.4106C>T (p.Ala1369Val) single nucleotide variant Inborn genetic diseases [RCV002788101] Chr17:37200434 [GRCh38]
Chr17:35557377 [GRCh37]
Chr17:17q12		 uncertain significance
NM_198834.3(ACACA):c.5875A>T (p.Ile1959Phe) single nucleotide variant Inborn genetic diseases [RCV002930996] Chr17:37129434 [GRCh38]
Chr17:35486360 [GRCh37]
Chr17:17q12		 uncertain significance
NM_198834.3(ACACA):c.6361C>G (p.Pro2121Ala) single nucleotide variant not provided [RCV002741140] Chr17:37113179 [GRCh38]
Chr17:35470114 [GRCh37]
Chr17:17q12		 uncertain significance
NM_198834.3(ACACA):c.6694C>T (p.Arg2232Trp) single nucleotide variant Inborn genetic diseases [RCV002930752] Chr17:37097856 [GRCh38]
Chr17:35454791 [GRCh37]
Chr17:17q12		 uncertain significance
NM_198834.3(ACACA):c.4968A>G (p.Gln1656=) single nucleotide variant not provided [RCV002786314] Chr17:37179371 [GRCh38]
Chr17:35536312 [GRCh37]
Chr17:17q12		 likely benign
NM_198834.3(ACACA):c.338+16A>G single nucleotide variant not provided [RCV002786317] Chr17:37330157 [GRCh38]
Chr17:35687097 [GRCh37]
Chr17:17q12		 benign
NM_198834.3(ACACA):c.3707+14A>G single nucleotide variant not provided [RCV002573656] Chr17:37210453 [GRCh38]
Chr17:35567367 [GRCh37]
Chr17:17q12		 likely benign
NM_198834.3(ACACA):c.1854G>A (p.Leu618=) single nucleotide variant not provided [RCV002801184] Chr17:37253009 [GRCh38]
Chr17:35609935 [GRCh37]
Chr17:17q12		 likely benign
NM_198834.3(ACACA):c.5573C>T (p.Thr1858Met) single nucleotide variant Inborn genetic diseases [RCV002713186] Chr17:37149970 [GRCh38]
Chr17:35506894 [GRCh37]
Chr17:17q12		 uncertain significance
NM_198834.3(ACACA):c.3361-8C>T single nucleotide variant not provided [RCV002790536] Chr17:37225113 [GRCh38]
Chr17:35582034 [GRCh37]
Chr17:17q12		 likely benign
NM_198834.3(ACACA):c.980A>G (p.Tyr327Cys) single nucleotide variant Inborn genetic diseases [RCV002766999] Chr17:37274221 [GRCh38]
Chr17:35631112 [GRCh37]
Chr17:17q12		 uncertain significance
NM_198834.3(ACACA):c.6682G>A (p.Asp2228Asn) single nucleotide variant Inborn genetic diseases [RCV002830225]|not provided [RCV002830226] Chr17:37097868 [GRCh38]
Chr17:35454803 [GRCh37]
Chr17:17q12		 uncertain significance
NM_198834.3(ACACA):c.5737C>T (p.His1913Tyr) single nucleotide variant not provided [RCV002852933] Chr17:37130161 [GRCh38]
Chr17:35487087 [GRCh37]
Chr17:17q12		 uncertain significance
NM_198834.3(ACACA):c.5945-22TTTC[2] microsatellite not provided [RCV002626654] Chr17:37125805..37125808 [GRCh38]
Chr17:35482726..35482729 [GRCh37]
Chr17:17q12		 likely benign
NM_198834.3(ACACA):c.788G>A (p.Gly263Asp) single nucleotide variant Inborn genetic diseases [RCV002744519] Chr17:37277047 [GRCh38]
Chr17:35633940 [GRCh37]
Chr17:17q12		 uncertain significance
NM_198834.3(ACACA):c.2846C>A (p.Pro949His) single nucleotide variant not provided [RCV002701241] Chr17:37243456 [GRCh38]
Chr17:35600372 [GRCh37]
Chr17:17q12		 uncertain significance
NM_173625.5(C17orf78):c.458C>A (p.Ala153Asp) single nucleotide variant Inborn genetic diseases [RCV002788849] Chr17:37386075 [GRCh38]
Chr17:35743013 [GRCh37]
Chr17:17q12		 uncertain significance
NM_198834.3(ACACA):c.332A>G (p.His111Arg) single nucleotide variant not provided [RCV002871917] Chr17:37330179 [GRCh38]
Chr17:35687119 [GRCh37]
Chr17:17q12		 uncertain significance
NM_198834.3(ACACA):c.1330-4T>A single nucleotide variant not provided [RCV002982287] Chr17:37259534 [GRCh38]
Chr17:35616456 [GRCh37]
Chr17:17q12		 uncertain significance
NM_198834.3(ACACA):c.494T>C (p.Ile165Thr) single nucleotide variant not provided [RCV002932799] Chr17:37283383 [GRCh38]
Chr17:35640284 [GRCh37]
Chr17:17q12		 uncertain significance
NM_198834.3(ACACA):c.5357G>C (p.Arg1786Thr) single nucleotide variant not provided [RCV002642918] Chr17:37155773 [GRCh38]
Chr17:35512695 [GRCh37]
Chr17:17q12		 uncertain significance
NM_198834.3(ACACA):c.5680-5T>G single nucleotide variant not provided [RCV002676196] Chr17:37130223 [GRCh38]
Chr17:35487149 [GRCh37]
Chr17:17q12		 likely benign
NM_198834.3(ACACA):c.2082-14C>G single nucleotide variant not provided [RCV002631982] Chr17:37248688 [GRCh38]
Chr17:35605612 [GRCh37]
Chr17:17q12		 likely benign
NM_198834.3(ACACA):c.570C>T (p.Phe190=) single nucleotide variant not provided [RCV002647136] Chr17:37283307 [GRCh38]
Chr17:35640208 [GRCh37]
Chr17:17q12		 likely benign
NM_198834.3(ACACA):c.191A>T (p.Asp64Val) single nucleotide variant not provided [RCV003049374] Chr17:37330320 [GRCh38]
Chr17:35687260 [GRCh37]
Chr17:17q12		 uncertain significance
NM_198834.3(ACACA):c.3852-11G>T single nucleotide variant not provided [RCV002580456] Chr17:37206890 [GRCh38]
Chr17:35563804 [GRCh37]
Chr17:17q12		 likely benign
NM_198834.3(ACACA):c.1089T>C (p.Asn363=) single nucleotide variant not provided [RCV002630423] Chr17:37270781 [GRCh38]
Chr17:35627672 [GRCh37]
Chr17:17q12		 likely benign
NM_198834.3(ACACA):c.4777-7_4777-6insG insertion not provided [RCV002577017] Chr17:37181362..37181363 [GRCh38]
Chr17:35538303..35538304 [GRCh37]
Chr17:17q12		 likely benign
NM_198834.3(ACACA):c.4872G>A (p.Arg1624=) single nucleotide variant not provided [RCV002922693] Chr17:37181261 [GRCh38]
Chr17:35538202 [GRCh37]
Chr17:17q12		 likely benign
NM_198834.3(ACACA):c.5349+10A>G single nucleotide variant not provided [RCV002627483] Chr17:37161771 [GRCh38]
Chr17:35518685 [GRCh37]
Chr17:17q12		 likely benign
NM_198834.3(ACACA):c.6483A>G (p.Val2161=) single nucleotide variant not provided [RCV003044445] Chr17:37111613 [GRCh38]
Chr17:35468548 [GRCh37]
Chr17:17q12		 likely benign
NM_198834.3(ACACA):c.2595+7A>G single nucleotide variant not provided [RCV002746175] Chr17:37245073 [GRCh38]
Chr17:35601989 [GRCh37]
Chr17:17q12		 likely benign
NM_198834.3(ACACA):c.6593G>A (p.Arg2198Gln) single nucleotide variant not provided [RCV002576512] Chr17:37097957 [GRCh38]
Chr17:35454892 [GRCh37]
Chr17:17q12		 uncertain significance
NM_198834.3(ACACA):c.4032G>T (p.Met1344Ile) single nucleotide variant not provided [RCV002581265] Chr17:37205789 [GRCh38]
Chr17:35562703 [GRCh37]
Chr17:17q12		 uncertain significance
NM_198834.3(ACACA):c.6452+6G>T single nucleotide variant not provided [RCV002631564] Chr17:37113082 [GRCh38]
Chr17:35470017 [GRCh37]
Chr17:17q12		 uncertain significance
NM_198834.3(ACACA):c.5039G>A (p.Gly1680Asp) single nucleotide variant Inborn genetic diseases [RCV002896737] Chr17:37179300 [GRCh38]
Chr17:35536241 [GRCh37]
Chr17:17q12		 uncertain significance
NM_198834.3(ACACA):c.5679+13G>A single nucleotide variant not provided [RCV002630392] Chr17:37149851 [GRCh38]
Chr17:35506775 [GRCh37]
Chr17:17q12		 likely benign
NM_198834.3(ACACA):c.2849A>G (p.Asn950Ser) single nucleotide variant not provided [RCV002597610] Chr17:37243453 [GRCh38]
Chr17:35600369 [GRCh37]
Chr17:17q12		 uncertain significance
NM_198834.3(ACACA):c.3247-15dup duplication not provided [RCV002715917] Chr17:37226466..37226467 [GRCh38]
Chr17:35583387..35583388 [GRCh37]
Chr17:17q12		 benign
NM_198834.3(ACACA):c.1120-19T>C single nucleotide variant not provided [RCV002806217] Chr17:37263913 [GRCh38]
Chr17:35620816 [GRCh37]
Chr17:17q12		 likely benign
NM_198834.3(ACACA):c.3252G>T (p.Gln1084His) single nucleotide variant Inborn genetic diseases [RCV002648402] Chr17:37226447 [GRCh38]
Chr17:35583368 [GRCh37]
Chr17:17q12		 uncertain significance
NM_198834.3(ACACA):c.4983T>C (p.Ser1661=) single nucleotide variant not provided [RCV002580711] Chr17:37179356 [GRCh38]
Chr17:35536297 [GRCh37]
Chr17:17q12		 likely benign
NM_198834.3(ACACA):c.3926C>T (p.Thr1309Met) single nucleotide variant Inborn genetic diseases [RCV002669855] Chr17:37206805 [GRCh38]
Chr17:35563719 [GRCh37]
Chr17:17q12		 uncertain significance
NM_198834.3(ACACA):c.5679+19G>A single nucleotide variant not provided [RCV003061966] Chr17:37149845 [GRCh38]
Chr17:35506769 [GRCh37]
Chr17:17q12		 likely benign
NM_198834.3(ACACA):c.3475-20C>T single nucleotide variant not provided [RCV002833629] Chr17:37223621 [GRCh38]
Chr17:35580542 [GRCh37]
Chr17:17q12		 likely benign
NM_198834.3(ACACA):c.4777-7C>T single nucleotide variant not provided [RCV002577018] Chr17:37181363 [GRCh38]
Chr17:35538304 [GRCh37]
Chr17:17q12		 likely benign
NM_198834.3(ACACA):c.6189G>C (p.Thr2063=) single nucleotide variant not provided [RCV003087050] Chr17:37121440 [GRCh38]
Chr17:35478362 [GRCh37]
Chr17:17q12		 uncertain significance
NM_198834.3(ACACA):c.5121A>G (p.Glu1707=) single nucleotide variant not provided [RCV002814844] Chr17:37162009 [GRCh38]
Chr17:35518923 [GRCh37]
Chr17:17q12		 likely benign
NM_198834.3(ACACA):c.211A>G (p.Ser71Gly) single nucleotide variant Inborn genetic diseases [RCV002678533] Chr17:37330300 [GRCh38]
Chr17:35687240 [GRCh37]
Chr17:17q12		 uncertain significance
NM_198834.3(ACACA):c.2889T>A (p.Ala963=) single nucleotide variant not provided [RCV002583274] Chr17:37243413 [GRCh38]
Chr17:35600329 [GRCh37]
Chr17:17q12		 likely benign
NM_198834.3(ACACA):c.5424C>T (p.His1808=) single nucleotide variant not provided [RCV002635095] Chr17:37155706 [GRCh38]
Chr17:35512628 [GRCh37]
Chr17:17q12		 likely benign
NM_198834.3(ACACA):c.1819G>A (p.Ala607Thr) single nucleotide variant not provided [RCV002604944] Chr17:37257710 [GRCh38]
Chr17:35614632 [GRCh37]
Chr17:17q12		 uncertain significance
NM_198834.3(ACACA):c.2910C>T (p.Leu970=) single nucleotide variant not provided [RCV002589788] Chr17:37243392 [GRCh38]
Chr17:35600308 [GRCh37]
Chr17:17q12		 likely benign
NM_198834.3(ACACA):c.7028+12G>A single nucleotide variant not provided [RCV002583789] Chr17:37088926 [GRCh38]
Chr17:35445861 [GRCh37]
Chr17:17q12		 likely benign
NM_198834.3(ACACA):c.188A>G (p.Glu63Gly) single nucleotide variant not provided [RCV002587129] Chr17:37330323 [GRCh38]
Chr17:35687263 [GRCh37]
Chr17:17q12		 uncertain significance
NM_198834.3(ACACA):c.5020C>A (p.Leu1674Met) single nucleotide variant not provided [RCV002588876] Chr17:37179319 [GRCh38]
Chr17:35536260 [GRCh37]
Chr17:17q12		 uncertain significance
NM_198834.3(ACACA):c.5007G>A (p.Leu1669=) single nucleotide variant not provided [RCV002589146] Chr17:37179332 [GRCh38]
Chr17:35536273 [GRCh37]
Chr17:17q12		 likely benign
NM_198834.3(ACACA):c.5493C>T (p.Pro1831=) single nucleotide variant not provided [RCV002589196] Chr17:37151376 [GRCh38]
Chr17:35508301 [GRCh37]
Chr17:17q12		 likely benign
NM_198834.3(ACACA):c.5352A>G (p.Gly1784=) single nucleotide variant not provided [RCV002589381] Chr17:37155778 [GRCh38]
Chr17:35512700 [GRCh37]
Chr17:17q12		 likely benign
Single allele deletion See cases [RCV003154619] Chr17:34842542..36104877 [GRCh37]
Chr17:17q12		 likely pathogenic
GRCh38/hg38 17q12(chr17:36138501-37924067) copy number gain Anomalous pulmonary venous return [RCV003223580] Chr17:36138501..37924067 [GRCh38]
Chr17:17q12		 pathogenic
NM_198834.3(ACACA):c.7043A>G (p.Asn2348Ser) single nucleotide variant Inborn genetic diseases [RCV003181076] Chr17:37087425 [GRCh38]
Chr17:35444360 [GRCh37]
Chr17:17q12		 uncertain significance
NM_198834.3(ACACA):c.2762G>A (p.Arg921Gln) single nucleotide variant Inborn genetic diseases [RCV003260326] Chr17:37243540 [GRCh38]
Chr17:35600456 [GRCh37]
Chr17:17q12		 uncertain significance
GRCh37/hg19 17q11.2-12(chr17:30572862-35843988) copy number loss Chromosome 17q12 deletion syndrome [RCV003319594] Chr17:30572862..35843988 [GRCh37]
Chr17:17q11.2-12		 pathogenic
NC_000017.10:g.(35567405_35578644)_(35583374_35591889)dup duplication not specified [RCV003324282] Chr17:35578644..35583374 [GRCh37]
Chr17:17q12		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:10133
Count of miRNA genes:1351
Interacting mature miRNAs:1803
Transcripts:ENST00000335166, ENST00000353139, ENST00000360679, ENST00000361253, ENST00000394403, ENST00000394406, ENST00000413318, ENST00000416895, ENST00000451642, ENST00000456066, ENST00000456561, ENST00000586621, ENST00000586821, ENST00000587233, ENST00000587545, ENST00000587598, ENST00000587653, ENST00000587720, ENST00000588142, ENST00000589665, ENST00000590888, ENST00000591119, ENST00000591148, ENST00000592243, ENST00000592427, ENST00000593055
Prediction methods:Microtar, Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
A009J24  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371735,501,884 - 35,502,005UniSTSGRCh37
Build 361732,575,997 - 32,576,118RGDNCBI36
Celera1732,324,424 - 32,324,545RGD
Cytogenetic Map17q21UniSTS
HuRef1731,438,036 - 31,438,157UniSTS
GeneMap99-GB4 RH Map17299.68UniSTS
WI-11525  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371735,655,850 - 35,656,000UniSTSGRCh37
Build 361732,729,963 - 32,730,113RGDNCBI36
Celera1732,478,401 - 32,478,551RGD
Cytogenetic Map17q21UniSTS
HuRef1731,594,400 - 31,594,550UniSTS
GeneMap99-GB4 RH Map17300.0UniSTS
Whitehead-RH Map17325.7UniSTS
NCBI RH Map17427.7UniSTS
SHGC-31900  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371735,441,950 - 35,442,074UniSTSGRCh37
Build 361732,516,063 - 32,516,187RGDNCBI36
Celera1732,264,410 - 32,264,534RGD
Cytogenetic Map17q21UniSTS
HuRef1731,378,050 - 31,378,174UniSTS
GeneMap99-GB4 RH Map17300.28UniSTS
Whitehead-RH Map17325.7UniSTS
NCBI RH Map17429.7UniSTS
RH98496  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371735,553,969 - 35,554,093UniSTSGRCh37
Build 361732,628,082 - 32,628,206RGDNCBI36
Celera1732,376,518 - 32,376,642RGD
Cytogenetic Map17q21UniSTS
HuRef1731,489,953 - 31,490,077UniSTS
GeneMap99-GB4 RH Map17300.93UniSTS
SHGC-78675  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371735,455,041 - 35,455,352UniSTSGRCh37
Build 361732,529,154 - 32,529,465RGDNCBI36
Celera1732,277,498 - 32,277,809RGD
Cytogenetic Map17q21UniSTS
HuRef1731,391,139 - 31,391,450UniSTS
TNG Radiation Hybrid Map1716341.0UniSTS
G60122  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371735,667,008 - 35,667,206UniSTSGRCh37
Build 361732,741,121 - 32,741,319RGDNCBI36
Celera1732,489,558 - 32,489,756RGD
Cytogenetic Map17q21UniSTS
HuRef1731,605,557 - 31,605,755UniSTS
TNG Radiation Hybrid Map1715912.0UniSTS
G54157  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371735,647,085 - 35,647,217UniSTSGRCh37
GRCh371912,804,224 - 12,804,461UniSTSGRCh37
Build 361732,721,198 - 32,721,330RGDNCBI36
Celera1732,469,653 - 32,469,785RGD
Celera1912,693,938 - 12,694,175UniSTS
HuRef1731,583,047 - 31,583,179UniSTS
HuRef7101,656,836 - 101,657,127UniSTS
HuRef1912,377,219 - 12,377,440UniSTS
D17S107  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371735,572,933 - 35,573,171UniSTSGRCh37
Build 361732,647,046 - 32,647,284RGDNCBI36
Celera1732,395,480 - 32,395,718RGD
Cytogenetic Map17q21UniSTS
HuRef1731,508,950 - 31,509,186UniSTS
D17S1255  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371735,609,826 - 35,609,934UniSTSGRCh37
Build 361732,683,939 - 32,684,047RGDNCBI36
Celera1732,432,363 - 32,432,471RGD
Cytogenetic Map17q21UniSTS
HuRef1731,545,764 - 31,545,872UniSTS
D17S1515E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371735,441,970 - 35,442,099UniSTSGRCh37
Build 361732,516,083 - 32,516,212RGDNCBI36
Celera1732,264,430 - 32,264,559RGD
Cytogenetic Map17q21UniSTS
HuRef1731,378,070 - 31,378,199UniSTS
SHGC-105835  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371735,556,320 - 35,556,627UniSTSGRCh37
Build 361732,630,433 - 32,630,740RGDNCBI36
Celera1732,378,869 - 32,379,176RGD
Cytogenetic Map17q21UniSTS
HuRef1731,492,304 - 31,492,611UniSTS
TNG Radiation Hybrid Map1715853.0UniSTS
SHGC-106779  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371735,578,834 - 35,579,163UniSTSGRCh37
Build 361732,652,947 - 32,653,276RGDNCBI36
Celera1732,401,381 - 32,401,710RGD
Cytogenetic Map17q21UniSTS
HuRef1731,514,844 - 31,515,173UniSTS
TNG Radiation Hybrid Map1715884.0UniSTS
D17S2161  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371735,467,042 - 35,467,172UniSTSGRCh37
Build 361732,541,155 - 32,541,285RGDNCBI36
Celera1732,289,554 - 32,289,684RGD
Cytogenetic Map17q21UniSTS
HuRef1731,403,200 - 31,403,330UniSTS
WI-14928  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371735,501,777 - 35,501,905UniSTSGRCh37
Build 361732,575,890 - 32,576,018RGDNCBI36
Celera1732,324,317 - 32,324,445RGD
Cytogenetic Map17q21UniSTS
HuRef1731,437,929 - 31,438,057UniSTS
GeneMap99-GB4 RH Map17298.1UniSTS
Whitehead-RH Map17324.9UniSTS
RH17508  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371735,576,983 - 35,577,121UniSTSGRCh37
Build 361732,651,096 - 32,651,234RGDNCBI36
Celera1732,399,530 - 32,399,668RGD
Cytogenetic Map17q21UniSTS
HuRef1731,512,997 - 31,513,135UniSTS
GeneMap99-GB4 RH Map17300.93UniSTS
NCBI RH Map17434.7UniSTS
ACACA_8187  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371735,441,905 - 35,442,805UniSTSGRCh37
Build 361732,516,018 - 32,516,918RGDNCBI36
Celera1732,264,365 - 32,265,265RGD
HuRef1731,378,005 - 31,378,905UniSTS
D17S1354E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371735,551,233 - 35,551,324UniSTSGRCh37
GRCh371735,551,236 - 35,551,312UniSTSGRCh37
Build 361732,625,346 - 32,625,437RGDNCBI36
Celera1732,373,785 - 32,373,861UniSTS
Celera1732,373,782 - 32,373,873RGD
Cytogenetic Map17q21UniSTS
HuRef1731,487,217 - 31,487,308UniSTS
HuRef1731,487,220 - 31,487,296UniSTS
GeneMap99-GB4 RH Map17302.36UniSTS
NCBI RH Map17375.7UniSTS
G09844  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371735,491,077 - 35,491,216UniSTSGRCh37
Build 361732,565,190 - 32,565,329RGDNCBI36
Celera1732,313,617 - 32,313,756RGD
Cytogenetic Map17q21UniSTS
HuRef1731,427,228 - 31,427,367UniSTS
Cda0ce05  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371735,441,983 - 35,442,132UniSTSGRCh37
Build 361732,516,096 - 32,516,245RGDNCBI36
Celera1732,264,443 - 32,264,592RGD
Cytogenetic Map17q21UniSTS
HuRef1731,378,083 - 31,378,232UniSTS
GeneMap99-GB4 RH Map17298.97UniSTS
D19S1171  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371916,898,966 - 16,899,179UniSTSGRCh37
Build 361916,759,966 - 16,760,179RGDNCBI36
Celera1916,800,503 - 16,800,713RGD
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map17q21UniSTS
HuRef1731,621,662 - 31,623,273UniSTS
HuRef1916,468,111 - 16,468,321UniSTS
Marshfield Genetic Map1944.41UniSTS
G19724  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371735,442,088 - 35,442,227UniSTSGRCh37
Build 361732,516,201 - 32,516,340RGDNCBI36
Celera1732,264,548 - 32,264,687RGD
Cytogenetic Map17q21UniSTS
HuRef1731,378,188 - 31,378,327UniSTS
A001W36  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371735,442,088 - 35,442,227UniSTSGRCh37
Build 361732,516,201 - 32,516,340RGDNCBI36
Celera1732,264,548 - 32,264,687RGD
Cytogenetic Map17q21UniSTS
HuRef1731,378,188 - 31,378,327UniSTS
GeneMap99-GB4 RH Map17298.97UniSTS
G32583  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371735,501,884 - 35,502,005UniSTSGRCh37
Celera1732,324,424 - 32,324,545UniSTS
Cytogenetic Map17q21UniSTS
HuRef1731,438,036 - 31,438,157UniSTS


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 adipose tissue appendage entire extraembryonic component
High
Medium 1397 649 830 151 588 70 2509 921 2608 84 1134 833 94 573 1506 3
Low 954 2178 654 282 1046 205 1809 1256 1056 98 126 630 77 631 1282 1
Below cutoff 157 141 16

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_023295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_198834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_198836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_198837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_198838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_198839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005257267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006721853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011524701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011524703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011524704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054315895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054315896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054315897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054315898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054315899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054315900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054315901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054315902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054315903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054315904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054315905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054315906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054315907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054315908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054315909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054315910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054315911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054315912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001752504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB371587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC003103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC016482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC068400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC243628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC243654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC244093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ534888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ534889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ564444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK129523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY237919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY315616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY315617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY315618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY315619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY315620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY315621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY315622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY315623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY315624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY315625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY315626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY315627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC031485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC041598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC137287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF154865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CF454424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U19822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000612007   ⟹   ENSP00000484948
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1737,328,962 - 37,365,568 (-)Ensembl
RefSeq Acc Id: ENST00000612120
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1737,207,730 - 37,225,571 (-)Ensembl
RefSeq Acc Id: ENST00000612895   ⟹   ENSP00000482269
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1737,084,994 - 37,299,767 (-)Ensembl
RefSeq Acc Id: ENST00000612926
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1737,247,902 - 37,248,676 (-)Ensembl
RefSeq Acc Id: ENST00000613146
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1737,221,518 - 37,359,121 (-)Ensembl
RefSeq Acc Id: ENST00000613776
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1737,087,222 - 37,122,794 (-)Ensembl
RefSeq Acc Id: ENST00000614333
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1737,360,205 - 37,368,727 (-)Ensembl
RefSeq Acc Id: ENST00000614428   ⟹   ENSP00000478547
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1737,084,994 - 37,359,116 (-)Ensembl
RefSeq Acc Id: ENST00000614438   ⟹   ENSP00000483852
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1737,328,645 - 37,330,399 (-)Ensembl
RefSeq Acc Id: ENST00000614450
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1737,200,429 - 37,222,028 (-)Ensembl
RefSeq Acc Id: ENST00000614482   ⟹   ENSP00000480371
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1737,086,876 - 37,161,835 (-)Ensembl
RefSeq Acc Id: ENST00000614789   ⟹   ENSP00000479621
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1737,284,838 - 37,359,116 (-)Ensembl
RefSeq Acc Id: ENST00000615229   ⟹   ENSP00000482498
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1737,274,217 - 37,406,672 (-)Ensembl
RefSeq Acc Id: ENST00000616317   ⟹   ENSP00000483300
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1737,084,992 - 37,406,836 (-)Ensembl
RefSeq Acc Id: ENST00000616352   ⟹   ENSP00000477912
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1737,284,838 - 37,406,780 (-)Ensembl
RefSeq Acc Id: ENST00000617548   ⟹   ENSP00000481900
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1737,284,838 - 37,406,780 (-)Ensembl
RefSeq Acc Id: ENST00000617649   ⟹   ENSP00000482368
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1737,086,817 - 37,299,767 (-)Ensembl
RefSeq Acc Id: ENST00000618053   ⟹   ENSP00000482064
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1737,086,880 - 37,088,983 (-)Ensembl
RefSeq Acc Id: ENST00000618351
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1737,360,233 - 37,406,818 (-)Ensembl
RefSeq Acc Id: ENST00000618575
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1737,161,600 - 37,188,294 (-)Ensembl
RefSeq Acc Id: ENST00000619245
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1737,188,303 - 37,193,458 (-)Ensembl
RefSeq Acc Id: ENST00000619546   ⟹   ENSP00000483969
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1737,084,998 - 37,205,812 (-)Ensembl
RefSeq Acc Id: ENST00000621960   ⟹   ENSP00000483696
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1737,277,988 - 37,359,096 (-)Ensembl
RefSeq Acc Id: NM_198834   ⟹   NP_942131
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381737,084,992 - 37,406,836 (-)NCBI
GRCh371735,441,927 - 35,766,902 (-)ENTREZGENE
Build 361732,516,040 - 32,841,015 (-)NCBI Archive
HuRef1731,378,027 - 31,583,939 (-)ENTREZGENE
HuRef1731,594,734 - 31,704,859 (-)NCBI
CHM1_11735,476,555 - 35,798,374 (-)NCBI
T2T-CHM13v2.01738,071,975 - 38,396,996 (-)NCBI
Sequence:
RefSeq Acc Id: NM_198836   ⟹   NP_942133
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381737,084,992 - 37,359,096 (-)NCBI
GRCh371735,441,927 - 35,766,902 (-)ENTREZGENE
Build 361732,516,040 - 32,790,172 (-)NCBI Archive
HuRef1731,378,027 - 31,583,939 (-)ENTREZGENE
HuRef1731,594,734 - 31,704,859 (-)NCBI
CHM1_11735,476,555 - 35,750,679 (-)NCBI
T2T-CHM13v2.01738,071,975 - 38,346,103 (-)NCBI
Sequence:
RefSeq Acc Id: NM_198837   ⟹   NP_942134
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381737,084,992 - 37,299,767 (-)NCBI
GRCh371735,441,927 - 35,766,902 (-)ENTREZGENE
Build 361732,516,040 - 32,730,805 (-)NCBI Archive
HuRef1731,378,027 - 31,583,939 (-)ENTREZGENE
HuRef1731,594,734 - 31,704,859 (-)NCBI
CHM1_11735,476,555 - 35,691,330 (-)NCBI
T2T-CHM13v2.01738,071,975 - 38,286,775 (-)NCBI
Sequence:
RefSeq Acc Id: NM_198838   ⟹   NP_942135
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381737,084,992 - 37,299,767 (-)NCBI
GRCh371735,441,927 - 35,766,902 (-)ENTREZGENE
Build 361732,516,040 - 32,730,805 (-)NCBI Archive
HuRef1731,378,027 - 31,583,939 (-)ENTREZGENE
HuRef1731,594,734 - 31,704,859 (-)NCBI
CHM1_11735,476,555 - 35,691,330 (-)NCBI
T2T-CHM13v2.01738,071,975 - 38,286,775 (-)NCBI
Sequence:
RefSeq Acc Id: NM_198839   ⟹   NP_942136
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381737,084,992 - 37,406,836 (-)NCBI
GRCh371735,441,927 - 35,766,902 (-)ENTREZGENE
Build 361732,516,040 - 32,841,015 (-)NCBI Archive
HuRef1731,378,027 - 31,583,939 (-)ENTREZGENE
HuRef1731,594,734 - 31,704,859 (-)NCBI
CHM1_11735,476,555 - 35,798,374 (-)NCBI
T2T-CHM13v2.01738,071,975 - 38,396,996 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005257267   ⟹   XP_005257324
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381737,084,992 - 37,359,096 (-)NCBI
GRCh371735,441,927 - 35,766,902 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006721853   ⟹   XP_006721916
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381737,084,992 - 37,406,836 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011524701   ⟹   XP_011523003
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381737,084,992 - 37,406,836 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011524703   ⟹   XP_011523005
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381737,084,992 - 37,359,096 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011524704   ⟹   XP_011523006
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381737,084,992 - 37,359,096 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047435878   ⟹   XP_047291834
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381737,084,992 - 37,368,766 (-)NCBI
RefSeq Acc Id: XM_047435879   ⟹   XP_047291835
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381737,084,992 - 37,368,766 (-)NCBI
RefSeq Acc Id: XM_047435880   ⟹   XP_047291836
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381737,084,992 - 37,368,766 (-)NCBI
RefSeq Acc Id: XM_047435881   ⟹   XP_047291837
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381737,084,992 - 37,368,766 (-)NCBI
RefSeq Acc Id: XM_047435882   ⟹   XP_047291838
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381737,084,992 - 37,406,836 (-)NCBI
RefSeq Acc Id: XM_047435883   ⟹   XP_047291839
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381737,084,992 - 37,368,766 (-)NCBI
RefSeq Acc Id: XM_047435884   ⟹   XP_047291840
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381737,084,992 - 37,359,096 (-)NCBI
RefSeq Acc Id: XM_047435885   ⟹   XP_047291841
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381737,084,992 - 37,359,096 (-)NCBI
RefSeq Acc Id: XM_047435886   ⟹   XP_047291842
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381737,084,992 - 37,301,518 (-)NCBI
RefSeq Acc Id: XM_047435888   ⟹   XP_047291844
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381737,084,992 - 37,330,250 (-)NCBI
RefSeq Acc Id: XM_047435889   ⟹   XP_047291845
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381737,084,992 - 37,299,767 (-)NCBI
RefSeq Acc Id: XM_047435890   ⟹   XP_047291846
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381737,084,992 - 37,359,096 (-)NCBI
RefSeq Acc Id: XM_047435891   ⟹   XP_047291847
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381737,084,992 - 37,359,096 (-)NCBI
RefSeq Acc Id: XM_047435892   ⟹   XP_047291848