ACOX1 (acyl-CoA oxidase 1) - Rat Genome Database

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Gene: ACOX1 (acyl-CoA oxidase 1) Homo sapiens
Analyze
Symbol: ACOX1
Name: acyl-CoA oxidase 1
RGD ID: 1344840
HGNC Page HGNC
Description: Enables several functions, including FAD binding activity; PDZ domain binding activity; and palmitoyl-CoA oxidase activity. Involved in several processes, including cholesterol homeostasis; fatty acid metabolic process; and hydrogen peroxide biosynthetic process. Located in membrane. Is active in peroxisome. Implicated in peroxisomal acyl-CoA oxidase deficiency.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ACOX; acyl-CoA oxidase 1, palmitoyl; acyl-CoA oxidase, straight-chain; acyl-Coenzyme A oxidase 1, palmitoyl; AOX; MGC1198; MITCH; PALMCOX; palmitoyl-CoA oxidase; peroxisomal acyl-coenzyme A oxidase 1; peroxisomal fatty acyl-CoA oxidase; SCOX; straight-chain acyl-CoA oxidase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1775,941,507 - 75,979,177 (-)EnsemblGRCh38hg38GRCh38
GRCh381775,941,507 - 75,979,199 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371773,937,588 - 73,975,247 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361771,449,183 - 71,487,039 (-)NCBINCBI36hg18NCBI36
Build 341771,453,259 - 71,487,020NCBI
Celera1770,527,638 - 70,565,551 (-)NCBI
Cytogenetic Map17q25.1ENTREZGENE
HuRef1769,363,233 - 69,401,119 (-)NCBIHuRef
CHM1_11774,002,525 - 74,040,340 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-dexrazoxane  (ISO)
(R)-lipoic acid  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,3,3,3-tetrafluoro-2-(heptafluoropropoxy)propanoic acid  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,6-dinitrotoluene  (ISO)
2-methyl-2-[4-(1,2,3,4-tetrahydronaphthalen-1-yl)phenoxy]propanoic acid  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-[3-(tert-butylsulfanyl)-1-(4-chlorobenzyl)-5-(propan-2-yl)-1H-indol-2-yl]-2,2-dimethylpropanoic acid  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
7,9-dihydro-1H-purine-2,6,8(3H)-trione  (ISO)
7-ketocholesterol  (ISO)
acetamide  (ISO)
Actein  (ISO)
aflatoxin B1  (EXP,ISO)
allopurinol  (EXP,ISO)
alloxan  (ISO)
amiodarone  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
aristolochic acid  (EXP)
Aroclor 1254  (ISO)
arsenous acid  (EXP)
atorvastatin calcium  (ISO)
atrazine  (ISO)
benzo[a]pyrene  (EXP)
benzo[e]pyrene  (EXP)
Benzo[k]fluoranthene  (ISO)
berberine  (ISO)
beta-hexachlorocyclohexane  (ISO)
bexarotene  (ISO)
bezafibrate  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
Bisphenol A diglycidyl ether  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
capsaicin  (EXP)
captan  (ISO)
carbon nanotube  (ISO)
chlorothalonil  (ISO)
chlorpyrifos  (ISO)
cholesterol  (ISO)
choline  (ISO)
chromium atom  (ISO)
ciprofibrate  (EXP,ISO)
clofibrate  (ISO)
clofibric acid  (ISO)
clozapine  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP,ISO)
cypermethrin  (ISO)
cyproconazole  (EXP)
DDE  (ISO)
dehydroepiandrosterone  (ISO)
dehydroepiandrosterone sulfate  (ISO)
dexamethasone  (ISO)
diarsenic trioxide  (EXP)
dicamba  (ISO)
dichloroacetic acid  (ISO)
diclofenac  (ISO)
diethyl maleate  (ISO)
diethylstilbestrol  (ISO)
difenoconazole  (EXP)
diisononyl phthalate  (ISO)
dioscin  (ISO)
dipentyl phthalate  (ISO)
dipropyl phthalate  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (ISO)
enilconazole  (EXP)
entinostat  (EXP)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
farnesol  (EXP)
fenofibrate  (EXP,ISO)
fenvalerate  (ISO)
finasteride  (ISO)
fludioxonil  (EXP)
flutamide  (ISO)
folic acid  (ISO)
folpet  (ISO)
fomesafen  (ISO)
fructose  (ISO)
fucoxanthin  (ISO)
furan  (ISO)
Ganoderic acid A  (ISO)
Gastrodin  (ISO)
gemfibrozil  (ISO)
genistein  (EXP)
glafenine  (ISO)
glutathione  (ISO)
gold atom  (ISO)
gold(0)  (ISO)
GW 4064  (EXP)
GW 501516  (ISO)
GW 6471  (ISO)
GW 7647  (EXP,ISO)
hydrogen peroxide  (ISO)
ibuprofen  (ISO)
ivermectin  (EXP)
L-methionine  (ISO)
linalool  (EXP,ISO)
linoleic acid  (ISO)
lipoic acid  (ISO)
lipopolysaccharide  (ISO)
lovastatin  (ISO)
meldonium  (ISO)
methapyrilene  (EXP)
methotrexate  (ISO)
methylmercury chloride  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
monosodium L-glutamate  (ISO)
N-nitrosodiethylamine  (ISO)
nafenopin  (ISO)
naringin  (ISO)
nefazodone  (ISO)
nickel atom  (EXP)
nickel dichloride  (EXP)
Nodularin  (ISO)
obeticholic acid  (EXP,ISO)
olanzapine  (ISO)
olaparib  (ISO)
oleic acid  (EXP)
oxybenzone  (ISO)
Oxyfluorfen  (ISO)
palmitoyl-CoA  (ISO)
paracetamol  (EXP,ISO)
perfluorobutanesulfonic acid  (ISO)
perfluorobutyric acid  (ISO)
perfluorodecanoic acid  (ISO)
perfluorohexanesulfonic acid  (EXP,ISO)
perfluorononanoic acid  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP,ISO)
permethrin  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
phlorizin  (ISO)
piperonyl butoxide  (ISO)
pirinixic acid  (EXP,ISO)
pravastatin  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
procymidone  (ISO)
propamocarb  (ISO)
propiconazole  (EXP,ISO)
Propiverine  (ISO)
pterostilbene  (ISO)
puerarin  (ISO)
pyrroloquinoline quinone  (ISO)
quizalofop-ethyl  (ISO)
raffinose  (EXP,ISO)
rebaudioside A  (ISO)
resveratrol  (ISO)
SB 431542  (EXP)
scopoletin  (ISO)
sodium arsenite  (ISO)
sodium dichromate  (ISO)
steviol  (ISO)
stevioside  (ISO)
sucrose  (ISO)
sulfasalazine  (ISO)
taurine  (ISO)
tebuconazole  (EXP)
tectoridin  (ISO)
tert-butyl ethyl ether  (ISO)
Tesaglitazar  (EXP,ISO)
testosterone  (EXP)
testosterone cypionate  (ISO)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
tetraphene  (ISO)
thiacloprid  (ISO)
thiophanate-methyl  (ISO)
tributylstannane  (ISO)
trichloroacetic acid  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triclosan  (EXP,ISO)
triptonide  (ISO)
tris(picolinato)chromium  (ISO)
troglitazone  (ISO)
tunicamycin  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
wortmannin  (ISO)
zaragozic acid A  (ISO)
zinc atom  (ISO)
zinc(0)  (ISO)
ziram  (ISO)
zoledronic acid  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (ISO)
cytosol  (TAS)
membrane  (HDA)
peroxisomal matrix  (TAS)
peroxisomal membrane  (IEA)
peroxisome  (IBA,IDA,IEA,ISO)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal autonomic nervous system physiology  (IAGP)
Abnormal cerebral white matter morphology  (IAGP)
Abnormal electroretinogram  (IAGP)
Abnormal nervous system morphology  (IAGP)
Abnormality of metabolism/homeostasis  (IAGP)
Abnormality of visual evoked potentials  (IAGP)
Absent speech  (IAGP)
Areflexia of lower limbs  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Babinski sign  (IAGP)
Bilateral sensorineural hearing impairment  (IAGP)
Brachycephaly  (IAGP)
Clumsiness  (IAGP)
CNS demyelination  (IAGP)
Death in infancy  (IAGP)
Decreased light- and dark-adapted electroretinogram amplitude  (IAGP)
Depressed nasal bridge  (IAGP)
Developmental regression  (IAGP)
Difficulty walking  (IAGP)
Diffuse hepatic steatosis  (IAGP)
Dysphagia  (IAGP)
Dystonia  (IAGP)
EEG abnormality  (IAGP)
Elevated hepatic transaminase  (IAGP)
Encephalopathy  (IAGP)
Epicanthus  (IAGP)
Failure to thrive  (IAGP)
Frontal bossing  (IAGP)
Gait disturbance  (IAGP)
Global developmental delay  (IAGP)
Hand polydactyly  (IAGP)
Hepatomegaly  (IAGP)
Hyperreflexia  (IAGP)
Hypertelorism  (IAGP)
Hypertonia  (IAGP)
Hypodontia  (IAGP)
Hyporeflexia of upper limbs  (IAGP)
Hypotonia  (IAGP)
Infantile onset  (IAGP)
Intellectual disability, progressive  (IAGP)
Intellectual disability, severe  (IAGP)
Inverted nipples  (IAGP)
Irritability  (IAGP)
Leukodystrophy  (IAGP)
Limb muscle weakness  (IAGP)
Low-set ears  (IAGP)
Muscle weakness  (IAGP)
Myopia  (IAGP)
Neonatal hypotonia  (IAGP)
Neurological speech impairment  (IAGP)
No social interaction  (IAGP)
Nystagmus  (IAGP)
Optic atrophy  (IAGP)
Pigmentary retinopathy  (IAGP)
Respiratory insufficiency  (IAGP)
Respiratory insufficiency due to muscle weakness  (IAGP)
Rod-cone dystrophy  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Sensory axonal neuropathy  (IAGP)
Severe global developmental delay  (IAGP)
Strabismus  (IAGP)
Wide nasal bridge  (IAGP)
References

Additional References at PubMed
PMID:1464743   PMID:7668838   PMID:7876265   PMID:8040306   PMID:8117268   PMID:8125298   PMID:8507686   PMID:8798738   PMID:8943006   PMID:10856712   PMID:10960480   PMID:11076863  
PMID:11230166   PMID:11815777   PMID:12477932   PMID:14702039   PMID:15489334   PMID:15489336   PMID:16381901   PMID:16396496   PMID:16756494   PMID:17081983   PMID:17458872   PMID:17603022  
PMID:17881773   PMID:18281296   PMID:18536048   PMID:18660489   PMID:19946888   PMID:20178365   PMID:20195242   PMID:21873635   PMID:22002062   PMID:22939629   PMID:23209302   PMID:23933200  
PMID:24418004   PMID:24501781   PMID:25963833   PMID:26186194   PMID:26344197   PMID:26496610   PMID:27542412   PMID:28380382   PMID:28514442   PMID:28724525   PMID:29478914   PMID:29568061  
PMID:30021884   PMID:30378028   PMID:31126802   PMID:31266804   PMID:31536960   PMID:31586073   PMID:31932471   PMID:32169171   PMID:32434419   PMID:32994395   PMID:33234382   PMID:33961781  
PMID:34079125  


Genomics

Comparative Map Data
ACOX1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1775,941,507 - 75,979,177 (-)EnsemblGRCh38hg38GRCh38
GRCh381775,941,507 - 75,979,199 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371773,937,588 - 73,975,247 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361771,449,183 - 71,487,039 (-)NCBINCBI36hg18NCBI36
Build 341771,453,259 - 71,487,020NCBI
Celera1770,527,638 - 70,565,551 (-)NCBI
Cytogenetic Map17q25.1ENTREZGENE
HuRef1769,363,233 - 69,401,119 (-)NCBIHuRef
CHM1_11774,002,525 - 74,040,340 (-)NCBICHM1_1
Acox1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3911116,062,709 - 116,089,871 (-)NCBIGRCm39mm39
GRCm39 Ensembl11116,062,714 - 116,089,871 (-)Ensembl
GRCm3811116,171,883 - 116,199,045 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11116,171,888 - 116,199,045 (-)EnsemblGRCm38mm10GRCm38
MGSCv3711116,033,202 - 116,060,359 (-)NCBIGRCm37mm9NCBIm37
MGSCv3611115,987,978 - 116,015,135 (-)NCBImm8
Celera11127,936,007 - 127,963,704 (-)NCBICelera
Cytogenetic Map11E2NCBI
Acox1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.210101,406,197 - 101,431,242 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl10101,406,197 - 101,431,232 (-)Ensembl
Rnor_6.010104,724,534 - 104,748,003 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl10104,722,958 - 104,748,050 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.010103,537,761 - 103,561,087 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.410106,281,977 - 106,319,382 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.110106,294,947 - 106,310,607 (-)NCBI
Celera1099,981,033 - 100,004,515 (-)NCBICelera
Cytogenetic Map10q32.1NCBI
Acox1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555066,286,648 - 6,312,716 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555066,286,824 - 6,309,764 (+)NCBIChiLan1.0ChiLan1.0
ACOX1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11775,441,856 - 75,479,568 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1775,445,923 - 75,479,571 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01769,890,817 - 69,928,342 (-)NCBIMhudiblu_PPA_v0panPan3
ACOX1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.194,658,692 - 4,682,667 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl94,658,090 - 4,679,096 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha95,338,792 - 5,363,123 (+)NCBI
ROS_Cfam_1.095,328,698 - 5,353,076 (+)NCBI
UMICH_Zoey_3.195,368,568 - 5,392,890 (+)NCBI
UNSW_CanFamBas_1.095,478,345 - 5,502,565 (+)NCBI
UU_Cfam_GSD_1.095,538,510 - 5,562,844 (+)NCBI
Acox1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244056025,272,135 - 5,296,650 (+)NCBI
SpeTri2.0NW_0049365941,115,607 - 1,140,085 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ACOX1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl125,428,360 - 5,479,544 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1125,450,913 - 5,479,550 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2125,472,406 - 5,484,941 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ACOX1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11645,706,009 - 45,745,564 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl1645,706,360 - 45,740,247 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366607716,459,017 - 16,498,942 (+)NCBIVero_WHO_p1.0
Acox1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248015,844,824 - 5,867,439 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
SHGC-30509  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371773,942,715 - 73,942,814UniSTSGRCh37
Build 361771,454,310 - 71,454,409RGDNCBI36
Celera1770,532,765 - 70,532,864RGD
Cytogenetic Map17q25.1UniSTS
HuRef1769,368,360 - 69,368,459UniSTS
Stanford-G3 RH Map173290.0UniSTS
NCBI RH Map17788.7UniSTS
GeneMap99-G3 RH Map173791.0UniSTS
SHGC-57116  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371773,949,465 - 73,949,633UniSTSGRCh37
Build 361771,461,060 - 71,461,228RGDNCBI36
Celera1770,539,515 - 70,539,683RGD
Cytogenetic Map17q25.1UniSTS
HuRef1769,375,133 - 69,375,301UniSTS
TNG Radiation Hybrid Map1733846.0UniSTS
G60178  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371773,941,937 - 73,942,234UniSTSGRCh37
Build 361771,453,532 - 71,453,829RGDNCBI36
Celera1770,531,987 - 70,532,284RGD
Cytogenetic Map17q25.1UniSTS
HuRef1769,367,582 - 69,367,879UniSTS
TNG Radiation Hybrid Map1733862.0UniSTS
GDB:340951  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371773,951,646 - 73,952,031UniSTSGRCh37
Build 361771,463,241 - 71,463,626RGDNCBI36
Celera1770,541,696 - 70,542,081RGD
Cytogenetic Map17q25.1UniSTS
HuRef1769,377,279 - 69,377,664UniSTS
ACOX1_4327  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371773,941,759 - 73,942,644UniSTSGRCh37
Build 361771,453,354 - 71,454,239RGDNCBI36
Celera1770,531,809 - 70,532,694RGD
HuRef1769,367,404 - 69,368,289UniSTS
RH16305  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371773,941,433 - 73,941,614UniSTSGRCh37
Build 361771,453,028 - 71,453,209RGDNCBI36
Celera1770,531,483 - 70,531,664RGD
Cytogenetic Map17q25.1UniSTS
HuRef1769,367,078 - 69,367,259UniSTS
GeneMap99-GB4 RH Map17486.13UniSTS
RH65536  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371773,972,187 - 73,972,369UniSTSGRCh37
Build 361771,483,782 - 71,483,964RGDNCBI36
Celera1770,562,223 - 70,562,405RGD
Cytogenetic Map17q25.1UniSTS
HuRef1769,397,791 - 69,397,973UniSTS
GeneMap99-GB4 RH Map17486.13UniSTS
RH16429  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371773,937,654 - 73,937,800UniSTSGRCh37
Build 361771,449,249 - 71,449,395RGDNCBI36
Celera1770,527,704 - 70,527,850RGD
Cytogenetic Map17q25.1UniSTS
HuRef1769,363,299 - 69,363,445UniSTS
GeneMap99-GB4 RH Map17486.13UniSTS
SHGC-34016  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371773,937,621 - 73,937,721UniSTSGRCh37
Build 361771,449,216 - 71,449,316RGDNCBI36
Celera1770,527,671 - 70,527,771RGD
Cytogenetic Map17q25.1UniSTS
HuRef1769,363,266 - 69,363,366UniSTS
Stanford-G3 RH Map173283.0UniSTS
NCBI RH Map17786.7UniSTS
GeneMap99-G3 RH Map173784.0UniSTS
G20374  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371773,941,999 - 73,942,138UniSTSGRCh37
Build 361771,453,594 - 71,453,733RGDNCBI36
Celera1770,532,049 - 70,532,188RGD
Cytogenetic Map17q25.1UniSTS
HuRef1769,367,644 - 69,367,783UniSTS
A005O17  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371773,941,999 - 73,942,138UniSTSGRCh37
Build 361771,453,594 - 71,453,733RGDNCBI36
Celera1770,532,049 - 70,532,188RGD
Cytogenetic Map17q25.1UniSTS
HuRef1769,367,644 - 69,367,783UniSTS
GeneMap99-GB4 RH Map17486.13UniSTS
D10S16   No map positions available.
GDB:434012  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map2q31.2-q33.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map5q21UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map1p21.3-p13.1UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1pter-q31.3UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map10p11.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map2q11.2-q12UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map4p16UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map6pter-p12.1UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map14q31UniSTS
GDB:574064  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map17q25.1UniSTS
L17688  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q32UniSTS
G35510  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q21UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map2p25-p24UniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6pter-q22.33UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map11q14.2-q21UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map9p21.3UniSTS
Cytogenetic Map7p15.1UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map5q31-q32UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map12p13.33UniSTS
Cytogenetic Map18p11.22-p11.21UniSTS
Cytogenetic Map5q34-q35UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic MapXp22.32UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map6pter-p12.1UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map17pUniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map20q13.33UniSTS
GDB:313783  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map10q21UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map10p15-p14UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map19p12UniSTS
D1S1425  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map2p23-p22UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic Map2p11.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map2p12-p11.2UniSTS
Cytogenetic Map3q11.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map1q32.2UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map18p11.3-p11.2UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map2p24UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map12q24.32UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map15q11-q12UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map12p13.33UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map4q31.21UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map10p15-p14UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map15q24-q25UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map6pter-p12.1UniSTS
Cytogenetic Map6q16UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map11q23.1-q23.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map16q24.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic MapXq21.1UniSTS
GDB:574052  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map17q25.1UniSTS
GDB:574056  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map17q25.1UniSTS
GDB:574062  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map17q25.1UniSTS
D10S16  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map2q11.2-q12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map3p22UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map5q21-q22UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map4q34UniSTS
Cytogenetic Map2p22-p21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map1p36.23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map12p12.1-p11.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map17qterUniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map1pter-q31.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map3p23-p21UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1p36.1-p34UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map15q24.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map3p23UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map19qterUniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map17pUniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map3q26.2UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:7806
Count of miRNA genes:1357
Interacting mature miRNAs:1763
Transcripts:ENST00000293217, ENST00000301608, ENST00000537812, ENST00000572047, ENST00000573078, ENST00000576743, ENST00000587927, ENST00000588176, ENST00000588968, ENST00000589301, ENST00000589744, ENST00000591857, ENST00000591963, ENST00000592329
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.


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2224 2125 1676 617 1575 463 4164 1774 2571 343 1389 1588 167 1177 2627 4
Low 215 866 50 7 376 2 193 423 1163 76 71 25 8 1 27 161 2 2
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001185039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_007292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011524868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011524869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC040980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC087289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH000843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ943492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC297086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB873087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB882949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB894278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC930496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC940358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC951687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S69189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U07866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X71440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000293217   ⟹   ENSP00000293217
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1775,941,507 - 75,979,166 (-)Ensembl
RefSeq Acc Id: ENST00000301608   ⟹   ENSP00000301608
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1775,946,577 - 75,979,134 (-)Ensembl
RefSeq Acc Id: ENST00000572047   ⟹   ENSP00000459936
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1775,946,464 - 75,979,073 (-)Ensembl
RefSeq Acc Id: ENST00000573078   ⟹   ENSP00000458325
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1775,946,530 - 75,979,128 (-)Ensembl
RefSeq Acc Id: ENST00000576743   ⟹   ENSP00000461486
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1775,973,309 - 75,978,693 (-)Ensembl
RefSeq Acc Id: ENST00000587927   ⟹   ENSP00000466921
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1775,942,878 - 75,949,359 (-)Ensembl
RefSeq Acc Id: ENST00000588176   ⟹   ENSP00000466210
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1775,955,908 - 75,979,177 (-)Ensembl
RefSeq Acc Id: ENST00000588968   ⟹   ENSP00000468651
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1775,942,596 - 75,949,532 (-)Ensembl
RefSeq Acc Id: ENST00000589301   ⟹   ENSP00000468435
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1775,957,515 - 75,979,128 (-)Ensembl
RefSeq Acc Id: ENST00000589744
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1775,953,249 - 75,955,589 (-)Ensembl
RefSeq Acc Id: ENST00000591857
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1775,955,861 - 75,979,091 (-)Ensembl
RefSeq Acc Id: ENST00000591963
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1775,942,879 - 75,943,576 (-)Ensembl
RefSeq Acc Id: ENST00000592329
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1775,978,467 - 75,979,045 (-)Ensembl
RefSeq Acc Id: NM_001185039   ⟹   NP_001171968
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,941,507 - 75,979,166 (-)NCBI
GRCh371773,937,588 - 73,975,515 (-)ENTREZGENE
HuRef1769,363,233 - 69,401,119 (-)ENTREZGENE
CHM1_11774,002,525 - 74,040,340 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004035   ⟹   NP_004026
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,941,507 - 75,979,166 (-)NCBI
GRCh371773,937,588 - 73,975,515 (-)ENTREZGENE
Build 361771,449,183 - 71,487,039 (-)NCBI Archive
HuRef1769,363,233 - 69,401,119 (-)ENTREZGENE
CHM1_11774,002,525 - 74,040,340 (-)NCBI
Sequence:
RefSeq Acc Id: NM_007292   ⟹   NP_009223
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,941,507 - 75,979,166 (-)NCBI
GRCh371773,937,588 - 73,975,515 (-)ENTREZGENE
Build 361771,449,183 - 71,487,039 (-)NCBI Archive
HuRef1769,363,233 - 69,401,119 (-)ENTREZGENE
CHM1_11774,002,525 - 74,040,340 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011524868   ⟹   XP_011523170
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,941,517 - 75,979,199 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011524869   ⟹   XP_011523171
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,941,517 - 75,979,133 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001171968 (Get FASTA)   NCBI Sequence Viewer  
  NP_004026 (Get FASTA)   NCBI Sequence Viewer  
  NP_009223 (Get FASTA)   NCBI Sequence Viewer  
  XP_011523170 (Get FASTA)   NCBI Sequence Viewer  
  XP_011523171 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA18595 (Get FASTA)   NCBI Sequence Viewer  
  AAA19113 (Get FASTA)   NCBI Sequence Viewer  
  AAA19114 (Get FASTA)   NCBI Sequence Viewer  
  AAB30019 (Get FASTA)   NCBI Sequence Viewer  
  AAH08767 (Get FASTA)   NCBI Sequence Viewer  
  AAH10425 (Get FASTA)   NCBI Sequence Viewer  
  BAF84482 (Get FASTA)   NCBI Sequence Viewer  
  BAF85654 (Get FASTA)   NCBI Sequence Viewer  
  BAG59073 (Get FASTA)   NCBI Sequence Viewer  
  BAG62169 (Get FASTA)   NCBI Sequence Viewer  
  CAA50574 (Get FASTA)   NCBI Sequence Viewer  
  CAD97622 (Get FASTA)   NCBI Sequence Viewer  
  CBF60587 (Get FASTA)   NCBI Sequence Viewer  
  CBF65740 (Get FASTA)   NCBI Sequence Viewer  
  CBF73135 (Get FASTA)   NCBI Sequence Viewer  
  CBU85830 (Get FASTA)   NCBI Sequence Viewer  
  CBU90611 (Get FASTA)   NCBI Sequence Viewer  
  CBU96027 (Get FASTA)   NCBI Sequence Viewer  
  EAW89349 (Get FASTA)   NCBI Sequence Viewer  
  EAW89350 (Get FASTA)   NCBI Sequence Viewer  
  EAW89351 (Get FASTA)   NCBI Sequence Viewer  
  EAW89352 (Get FASTA)   NCBI Sequence Viewer  
  Q15067 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_004026   ⟸   NM_004035
- Peptide Label: isoform a
- UniProtKB: Q15067 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_009223   ⟸   NM_007292
- Peptide Label: isoform b
- UniProtKB: Q15067 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001171968   ⟸   NM_001185039
- Peptide Label: isoform c
- UniProtKB: Q15067 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011523170   ⟸   XM_011524868
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011523171   ⟸   XM_011524869
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000293217   ⟸   ENST00000293217
RefSeq Acc Id: ENSP00000459936   ⟸   ENST00000572047
RefSeq Acc Id: ENSP00000466921   ⟸   ENST00000587927
RefSeq Acc Id: ENSP00000458325   ⟸   ENST00000573078
RefSeq Acc Id: ENSP00000466210   ⟸   ENST00000588176
RefSeq Acc Id: ENSP00000468651   ⟸   ENST00000588968
RefSeq Acc Id: ENSP00000468435   ⟸   ENST00000589301
RefSeq Acc Id: ENSP00000461486   ⟸   ENST00000576743
RefSeq Acc Id: ENSP00000301608   ⟸   ENST00000301608
Protein Domains
ACOX   Acyl-CoA_dh_M   Acyl-CoA_ox_N

Promoters
RGD ID:6793710
Promoter ID:HG_KWN:27142
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001185039,   UC002JQE.1,   UC002JQF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361771,486,651 - 71,487,422 (-)MPROMDB
RGD ID:7236363
Promoter ID:EPDNEW_H23926
Type:initiation region
Name:ACOX1_1
Description:acyl-CoA oxidase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23928  EPDNEW_H23931  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,979,128 - 75,979,188EPDNEW
RGD ID:7236365
Promoter ID:EPDNEW_H23928
Type:initiation region
Name:ACOX1_2
Description:acyl-CoA oxidase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23926  EPDNEW_H23931  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,979,396 - 75,979,456EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
nsv513791 deletion Peroxisomal acyl-CoA oxidase deficiency [RCV000001563] Chr17:17q25.1 pathogenic
nsv513790 deletion Peroxisomal acyl-CoA oxidase deficiency [RCV000001569] Chr17:17q25.1 pathogenic
NM_004035.7(ACOX1):c.832A>G (p.Met278Val) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000001564] Chr17:75953563 [GRCh38]
Chr17:73949644 [GRCh37]
Chr17:17q25.1
pathogenic
NM_004035.7(ACOX1):c.532G>T (p.Gly178Cys) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000001565] Chr17:75957465 [GRCh38]
Chr17:73953546 [GRCh37]
Chr17:17q25.1
pathogenic
NM_004035.7(ACOX1):c.926A>G (p.Gln309Arg) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000001566] Chr17:75953469 [GRCh38]
Chr17:73949550 [GRCh37]
Chr17:17q25.1
pathogenic
NM_004035.7(ACOX1):c.442C>T (p.Arg148Ter) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000001567]|not provided [RCV000579187] Chr17:75957555 [GRCh38]
Chr17:73953636 [GRCh37]
Chr17:17q25.1
pathogenic
NM_004035.7(ACOX1):c.372_389del (p.Phe124_Asn129del) deletion Peroxisomal acyl-CoA oxidase deficiency [RCV000001568] Chr17:75960256..75960273 [GRCh38]
Chr17:73956337..73956354 [GRCh37]
Chr17:17q25.1
pathogenic
GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3 copy number gain See cases [RCV000052486] Chr17:69209079..83086677 [GRCh38]
Chr17:67205220..81044553 [GRCh37]
Chr17:64716815..78637842 [NCBI36]
Chr17:17q24.3-25.3
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 17q25.1(chr17:75636351-75970744)x1 copy number loss See cases [RCV000053453] Chr17:75636351..75970744 [GRCh38]
Chr17:73632431..73966825 [GRCh37]
Chr17:71144026..71478420 [NCBI36]
Chr17:17q25.1
pathogenic
NM_004035.7(ACOX1):c.1851del (p.Gly618fs) deletion Peroxisomal acyl-CoA oxidase deficiency [RCV000190564] Chr17:75948335 [GRCh38]
Chr17:73944416 [GRCh37]
Chr17:17q25.1
likely pathogenic
NM_004035.7(ACOX1):c.1418C>T (p.Thr473Ile) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001243242]|not provided [RCV000513926] Chr17:75949778 [GRCh38]
Chr17:73945859 [GRCh37]
Chr17:17q25.1
uncertain significance
GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3 copy number gain See cases [RCV000143342] Chr17:69916435..83102552 [GRCh38]
Chr17:67912576..81048189 [GRCh37]
Chr17:65424171..78653717 [NCBI36]
Chr17:17q24.3-25.3
pathogenic
NM_004035.7(ACOX1):c.176G>C (p.Arg59Pro) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000196696] Chr17:75978627 [GRCh38]
Chr17:73974708 [GRCh37]
Chr17:17q25.1
likely pathogenic
NM_004035.7(ACOX1):c.532G>A (p.Gly178Ser) single nucleotide variant not provided [RCV000224694] Chr17:75957465 [GRCh38]
Chr17:73953546 [GRCh37]
Chr17:17q25.1
likely pathogenic
NM_004035.7(ACOX1):c.80C>T (p.Pro27Leu) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000276460]|not provided [RCV000224734] Chr17:75978994 [GRCh38]
Chr17:73975075 [GRCh37]
Chr17:17q25.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004035.7(ACOX1):c.936C>G (p.Ile312Met) single nucleotide variant Mitchell syndrome [RCV001543052]|Peroxisomal acyl-CoA oxidase deficiency [RCV000405630]|not provided [RCV000676134]|not specified [RCV000253358] Chr17:75953459 [GRCh38]
Chr17:73949540 [GRCh37]
Chr17:17q25.1
benign
GRCh37/hg19 17q25.1(chr17:73870412-74160099)x3 copy number gain See cases [RCV000240272] Chr17:73870412..74160099 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.1771C>T (p.Arg591Cys) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000327953]|not provided [RCV000676130]|not specified [RCV000244221] Chr17:75948415 [GRCh38]
Chr17:73944496 [GRCh37]
Chr17:17q25.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_004035.7(ACOX1):c.921G>A (p.Arg307=) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000284955]|not provided [RCV000676135]|not specified [RCV000249176] Chr17:75953474 [GRCh38]
Chr17:73949555 [GRCh37]
Chr17:17q25.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004035.7(ACOX1):c.1320T>C (p.Asp440=) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000373680]|not provided [RCV000676132]|not specified [RCV000252233] Chr17:75949876 [GRCh38]
Chr17:73945957 [GRCh37]
Chr17:17q25.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_004035.7(ACOX1):c.*2235G>C single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000282545] Chr17:75944513 [GRCh38]
Chr17:73940594 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*5134A>G single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000266323] Chr17:75941614 [GRCh38]
Chr17:73937695 [GRCh37]
Chr17:17q25.1
likely benign|uncertain significance
NM_004035.7(ACOX1):c.*441G>A single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000267183] Chr17:75946307 [GRCh38]
Chr17:73942388 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*721A>G single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000291282] Chr17:75946027 [GRCh38]
Chr17:73942108 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_001113324.3(TEN1):c.-272G>A single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000291697] Chr17:75979246 [GRCh38]
Chr17:73975327 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*2737C>T single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000275621] Chr17:75944011 [GRCh38]
Chr17:73940092 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.591G>A (p.Gly197=) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000275960]|not provided [RCV000676137] Chr17:75955895 [GRCh38]
Chr17:73951976 [GRCh37]
Chr17:17q25.1
benign|likely benign
NM_004035.7(ACOX1):c.*4039G>T single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000294510] Chr17:75942709 [GRCh38]
Chr17:73938790 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*3943C>T single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000279477] Chr17:75942805 [GRCh38]
Chr17:73938886 [GRCh37]
Chr17:17q25.1
benign|likely benign
NM_004035.7(ACOX1):c.1068C>T (p.Asn356=) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000281263] Chr17:75951454 [GRCh38]
Chr17:73947535 [GRCh37]
Chr17:17q25.1
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004035.7(ACOX1):c.*1853T>C single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000342440] Chr17:75944895 [GRCh38]
Chr17:73940976 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*874C>T single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000269216] Chr17:75945874 [GRCh38]
Chr17:73941955 [GRCh37]
Chr17:17q25.1
benign|likely benign
NM_004035.7(ACOX1):c.*1021C>A single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000357011] Chr17:75945727 [GRCh38]
Chr17:73941808 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*959dup duplication Peroxisomal acyl-CoA oxidase deficiency [RCV000264565] Chr17:75945788..75945789 [GRCh38]
Chr17:73941869..73941870 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*2771A>C single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000367354] Chr17:75943977 [GRCh38]
Chr17:73940058 [GRCh37]
Chr17:17q25.1
benign|likely benign
NM_004035.7(ACOX1):c.1821T>C (p.Val607=) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000270591] Chr17:75948365 [GRCh38]
Chr17:73944446 [GRCh37]
Chr17:17q25.1
conflicting interpretations of pathogenicity|uncertain significance
NM_004035.7(ACOX1):c.*4296C>A single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000272610] Chr17:75942452 [GRCh38]
Chr17:73938533 [GRCh37]
Chr17:17q25.1
benign|likely benign
NM_004035.7(ACOX1):c.*2875C>T single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000310380] Chr17:75943873 [GRCh38]
Chr17:73939954 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*1431A>G single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000311134] Chr17:75945317 [GRCh38]
Chr17:73941398 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*2643C>T single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000260315] Chr17:75944105 [GRCh38]
Chr17:73940186 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*946_*948GTT[1] microsatellite Peroxisomal acyl-CoA oxidase deficiency [RCV000323073] Chr17:75945797..75945799 [GRCh38]
Chr17:73941878..73941880 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*5037T>C single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000346083] Chr17:75941711 [GRCh38]
Chr17:73937792 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.667G>A (p.Val223Ile) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000394254] Chr17:75955673 [GRCh38]
Chr17:73951754 [GRCh37]
Chr17:17q25.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004035.7(ACOX1):c.1561G>T (p.Val521Phe) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000273944] Chr17:75949518 [GRCh38]
Chr17:73945599 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*1135_*1141del deletion Peroxisomal acyl-CoA oxidase deficiency [RCV000396559] Chr17:75945607..75945613 [GRCh38]
Chr17:73941688..73941694 [GRCh37]
Chr17:17q25.1
likely benign
NM_004035.7(ACOX1):c.*1126A>G single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000314802] Chr17:75945622 [GRCh38]
Chr17:73941703 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.1344G>A (p.Val448=) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000316752] Chr17:75949852 [GRCh38]
Chr17:73945933 [GRCh37]
Chr17:17q25.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004035.7(ACOX1):c.*1034T>G single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000261093] Chr17:75945714 [GRCh38]
Chr17:73941795 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*5124A>G single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000326323] Chr17:75941624 [GRCh38]
Chr17:73937705 [GRCh37]
Chr17:17q25.1
benign|likely benign
NM_004035.7(ACOX1):c.*3988A>T single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000371672] Chr17:75942760 [GRCh38]
Chr17:73938841 [GRCh37]
Chr17:17q25.1
likely benign|uncertain significance
NM_004035.7(ACOX1):c.*155A>T single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000306017] Chr17:75946593 [GRCh38]
Chr17:73942674 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_001113324.3(TEN1):c.-259A>T single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000327840] Chr17:75979259 [GRCh38]
Chr17:73975340 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*2644G>A single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000371223] Chr17:75944104 [GRCh38]
Chr17:73940185 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.867T>C (p.Ala289=) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000307412] Chr17:75953528 [GRCh38]
Chr17:73949609 [GRCh37]
Chr17:17q25.1
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004035.7(ACOX1):c.*4296del deletion Peroxisomal acyl-CoA oxidase deficiency [RCV000326333] Chr17:75942452 [GRCh38]
Chr17:73938533 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*3872G>A single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000336753] Chr17:75942876 [GRCh38]
Chr17:73938957 [GRCh37]
Chr17:17q25.1
benign
NM_004035.7(ACOX1):c.458C>T (p.Thr153Ile) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000353252] Chr17:75957539 [GRCh38]
Chr17:73953620 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*4516G>A single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000402545] Chr17:75942232 [GRCh38]
Chr17:73938313 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*932T>C single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000380083] Chr17:75945816 [GRCh38]
Chr17:73941897 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_001113324.3(TEN1):c.-128C>T single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000382465]|not provided [RCV001536602] Chr17:75979390 [GRCh38]
Chr17:73975471 [GRCh37]
Chr17:17q25.1
benign|likely benign
NM_004035.7(ACOX1):c.*3531dup duplication Peroxisomal acyl-CoA oxidase deficiency [RCV000342119] Chr17:75943216..75943217 [GRCh38]
Chr17:73939297..73939298 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*1977C>T single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000377349] Chr17:75944771 [GRCh38]
Chr17:73940852 [GRCh37]
Chr17:17q25.1
benign|uncertain significance
NM_004035.7(ACOX1):c.*1809A>G single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000288817] Chr17:75944939 [GRCh38]
Chr17:73941020 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*4259C>T single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000329735] Chr17:75942489 [GRCh38]
Chr17:73938570 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.1541T>C (p.Val514Ala) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000331366] Chr17:75949538 [GRCh38]
Chr17:73945619 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*4250T>G single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000386632] Chr17:75942498 [GRCh38]
Chr17:73938579 [GRCh37]
Chr17:17q25.1
likely benign|uncertain significance
NM_004035.7(ACOX1):c.*4472dup duplication Peroxisomal acyl-CoA oxidase deficiency [RCV000358080] Chr17:75942275..75942276 [GRCh38]
Chr17:73938356..73938357 [GRCh37]
Chr17:17q25.1
likely benign
NM_004035.7(ACOX1):c.659-4G>A single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000311073]|not provided [RCV000978726] Chr17:75955685 [GRCh38]
Chr17:73951766 [GRCh37]
Chr17:17q25.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004035.7(ACOX1):c.*2736G>A single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000333067] Chr17:75944012 [GRCh38]
Chr17:73940093 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*4021C>T single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000333125] Chr17:75942727 [GRCh38]
Chr17:73938808 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*5164A>G single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000379743] Chr17:75941584 [GRCh38]
Chr17:73937665 [GRCh37]
Chr17:17q25.1
benign
NM_004035.7(ACOX1):c.*1813C>T single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000380679] Chr17:75944935 [GRCh38]
Chr17:73941016 [GRCh37]
Chr17:17q25.1
likely benign|uncertain significance
NM_004035.7(ACOX1):c.*5092A>G single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000291111] Chr17:75941656 [GRCh38]
Chr17:73937737 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*4551C>T single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000334741] Chr17:75942197 [GRCh38]
Chr17:73938278 [GRCh37]
Chr17:17q25.1
likely benign|uncertain significance
NM_004035.7(ACOX1):c.*679T>C single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000386844] Chr17:75946069 [GRCh38]
Chr17:73942150 [GRCh37]
Chr17:17q25.1
benign
NM_004035.7(ACOX1):c.*5000G>T single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000386808] Chr17:75941748 [GRCh38]
Chr17:73937829 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.510G>A (p.Val170=) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000333395]|not provided [RCV000929722] Chr17:75957487 [GRCh38]
Chr17:73953568 [GRCh37]
Chr17:17q25.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004035.7(ACOX1):c.954A>G (p.Glu318=) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000338678] Chr17:75951568 [GRCh38]
Chr17:73947649 [GRCh37]
Chr17:17q25.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004035.7(ACOX1):c.*654A>G single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000390730] Chr17:75946094 [GRCh38]
Chr17:73942175 [GRCh37]
Chr17:17q25.1
benign|uncertain significance
NM_004035.7(ACOX1):c.*2969A>G single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000394163] Chr17:75943779 [GRCh38]
Chr17:73939860 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*3529_*3531dup duplication Peroxisomal acyl-CoA oxidase deficiency [RCV000402463] Chr17:75943216..75943217 [GRCh38]
Chr17:73939297..73939298 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*474G>A single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000358923] Chr17:75946274 [GRCh38]
Chr17:73942355 [GRCh37]
Chr17:17q25.1
benign|likely benign
NM_004035.7(ACOX1):c.1368C>T (p.Asn456=) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000296679] Chr17:75949828 [GRCh38]
Chr17:73945909 [GRCh37]
Chr17:17q25.1
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004035.7(ACOX1):c.*4444G>A single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000394974] Chr17:75942304 [GRCh38]
Chr17:73938385 [GRCh37]
Chr17:17q25.1
benign|likely benign
NM_004035.7(ACOX1):c.*620G>A single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000336817] Chr17:75946128 [GRCh38]
Chr17:73942209 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.1584+11G>A single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000384803] Chr17:75949484 [GRCh38]
Chr17:73945565 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*633G>C single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000298055] Chr17:75946115 [GRCh38]
Chr17:73942196 [GRCh37]
Chr17:17q25.1
benign|likely benign
NM_004035.7(ACOX1):c.912C>T (p.Ser304=) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000342530] Chr17:75953483 [GRCh38]
Chr17:73949564 [GRCh37]
Chr17:17q25.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004035.7(ACOX1):c.871C>T (p.Arg291Trp) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000404813] Chr17:75953524 [GRCh38]
Chr17:73949605 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*4579C>T single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000279660] Chr17:75942169 [GRCh38]
Chr17:73938250 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*2625T>C single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000317682] Chr17:75944123 [GRCh38]
Chr17:73940204 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*4490A>G single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000300982] Chr17:75942258 [GRCh38]
Chr17:73938339 [GRCh37]
Chr17:17q25.1
benign|likely benign
NM_004035.7(ACOX1):c.*720C>T single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000348612] Chr17:75946028 [GRCh38]
Chr17:73942109 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*481G>A single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000406416] Chr17:75946267 [GRCh38]
Chr17:73942348 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*3345C>A single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000364289] Chr17:75943403 [GRCh38]
Chr17:73939484 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.788G>C (p.Gly263Ala) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000364468]|not provided [RCV001200231] Chr17:75953607 [GRCh38]
Chr17:73949688 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*4829_*4830AT[1] microsatellite Peroxisomal acyl-CoA oxidase deficiency [RCV000352104] Chr17:75941916..75941917 [GRCh38]
Chr17:73937997..73937998 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*4317_*4318dup duplication Peroxisomal acyl-CoA oxidase deficiency [RCV000268994] Chr17:75942429..75942430 [GRCh38]
Chr17:73938510..73938511 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.580A>C (p.Ile194Leu) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001279296] Chr17:75955906 [GRCh38]
Chr17:73951987 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*4346G>C single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000361434] Chr17:75942402 [GRCh38]
Chr17:73938483 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*5117A>C single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000380907] Chr17:75941631 [GRCh38]
Chr17:73937712 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*1782dup duplication Peroxisomal acyl-CoA oxidase deficiency [RCV000346144] Chr17:75944965..75944966 [GRCh38]
Chr17:73941046..73941047 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.1866C>A (p.Gly622=) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000363067] Chr17:75948320 [GRCh38]
Chr17:73944401 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*4876C>T single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000292423] Chr17:75941872 [GRCh38]
Chr17:73937953 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*4440C>T single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000304351] Chr17:75942308 [GRCh38]
Chr17:73938389 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.-62_-61dup duplication Peroxisomal acyl-CoA oxidase deficiency [RCV000331484] Chr17:75979133..75979134 [GRCh38]
Chr17:73975214..73975215 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*4295_*4296del deletion Peroxisomal acyl-CoA oxidase deficiency [RCV000364810] Chr17:75942452..75942453 [GRCh38]
Chr17:73938533..73938534 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*756G>A single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000383307] Chr17:75945992 [GRCh38]
Chr17:73942073 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*3621C>G single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000404415] Chr17:75943127 [GRCh38]
Chr17:73939208 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*676G>T single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000294599] Chr17:75946072 [GRCh38]
Chr17:73942153 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*1380T>C single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000349740] Chr17:75945368 [GRCh38]
Chr17:73941449 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.6(ACOX1):c.-105C>G single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000385986] Chr17:75979178 [GRCh38]
Chr17:73975259 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*4590G>A single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000404895] Chr17:75942158 [GRCh38]
Chr17:73938239 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*3533del deletion Peroxisomal acyl-CoA oxidase deficiency [RCV000284828] Chr17:75943215 [GRCh38]
Chr17:73939296 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*3377dup duplication Peroxisomal acyl-CoA oxidase deficiency [RCV000307236] Chr17:75943370..75943371 [GRCh38]
Chr17:73939451..73939452 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.658+4A>G single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000368186] Chr17:75955824 [GRCh38]
Chr17:73951905 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*1434C>T single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000406255] Chr17:75945314 [GRCh38]
Chr17:73941395 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*1938C>T single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000285160] Chr17:75944810 [GRCh38]
Chr17:73940891 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*2212del deletion Peroxisomal acyl-CoA oxidase deficiency [RCV000321233] Chr17:75944536 [GRCh38]
Chr17:73940617 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*660A>C single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000351799] Chr17:75946088 [GRCh38]
Chr17:73942169 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.1406_1408del (p.Ala469del) deletion Peroxisomal acyl-CoA oxidase deficiency [RCV000388728] Chr17:75949788..75949790 [GRCh38]
Chr17:73945869..73945871 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*1083C>T single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000353314] Chr17:75945665 [GRCh38]
Chr17:73941746 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*2239A>T single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000374605] Chr17:75944509 [GRCh38]
Chr17:73940590 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*1023A>C single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000299878] Chr17:75945725 [GRCh38]
Chr17:73941806 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*765G>A single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000326581] Chr17:75945983 [GRCh38]
Chr17:73942064 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*478T>C single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000301808] Chr17:75946270 [GRCh38]
Chr17:73942351 [GRCh37]
Chr17:17q25.1
uncertain significance
GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3 copy number gain See cases [RCV000447539] Chr17:73951701..81041938 [GRCh37]
Chr17:17q25.1-25.3
pathogenic
GRCh37/hg19 17q25.1(chr17:73929152-73955205)x3 copy number gain See cases [RCV000446285] Chr17:73929152..73955205 [GRCh37]
Chr17:17q25.1
likely benign
GRCh37/hg19 17q24.2-25.3(chr17:64241326-81041938)x3 copy number gain See cases [RCV000447577] Chr17:64241326..81041938 [GRCh37]
Chr17:17q24.2-25.3
pathogenic
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 copy number gain See cases [RCV000447823] Chr17:42580684..81085615 [GRCh37]
Chr17:17q21.31-25.3
pathogenic
GRCh37/hg19 17q25.1(chr17:73757329-73992584)x3 copy number gain See cases [RCV000511796] Chr17:73757329..73992584 [GRCh37]
Chr17:17q25.1
uncertain significance
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 17q25.1-25.3(chr17:73951701-81041938)x3 copy number gain See cases [RCV000510919] Chr17:73951701..81041938 [GRCh37]
Chr17:17q25.1-25.3
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 17q24.2-25.3(chr17:67002415-81041938)x3 copy number gain See cases [RCV000512573] Chr17:67002415..81041938 [GRCh37]
Chr17:17q24.2-25.3
pathogenic
NM_004035.7(ACOX1):c.1772G>A (p.Arg591His) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000660390] Chr17:75948414 [GRCh38]
Chr17:73944495 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.944+22G>A single nucleotide variant not provided [RCV000676133] Chr17:75953429 [GRCh38]
Chr17:73949510 [GRCh37]
Chr17:17q25.1
benign
NM_004035.7(ACOX1):c.722A>G (p.Lys241Arg) single nucleotide variant not provided [RCV000676136] Chr17:75955618 [GRCh38]
Chr17:73951699 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.1636A>T (p.Ile546Phe) single nucleotide variant not provided [RCV000676131] Chr17:75949309 [GRCh38]
Chr17:73945390 [GRCh37]
Chr17:17q25.1
uncertain significance
NC_000017.11:g.(?_75973605)_(75979093_?)del deletion Peroxisomal acyl-CoA oxidase deficiency [RCV000707867] Chr17:75973605..75979093 [GRCh38]
Chr17:73969686..73975174 [GRCh37]
Chr17:17q25.1
pathogenic
GRCh37/hg19 17q25.1(chr17:73414856-74037715)x3 copy number gain not provided [RCV000683962] Chr17:73414856..74037715 [GRCh37]
Chr17:17q25.1
uncertain significance
GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3 copy number gain not provided [RCV000683952] Chr17:63689671..81041938 [GRCh37]
Chr17:17q24.1-25.3
pathogenic
NM_004035.7(ACOX1):c.139del (p.Gln47fs) deletion Peroxisomal acyl-CoA oxidase deficiency [RCV000702067] Chr17:75978664 [GRCh38]
Chr17:73974745 [GRCh37]
Chr17:17q25.1
pathogenic
NM_004035.7(ACOX1):c.944G>A (p.Gly315Asp) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000706440] Chr17:75953451 [GRCh38]
Chr17:73949532 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.710A>G (p.Asn237Ser) single nucleotide variant ACOX1-related condition [RCV000708560]|Mitchell syndrome [RCV001250273]|not provided [RCV001268145] Chr17:75955630 [GRCh38]
Chr17:73951711 [GRCh37]
Chr17:17q25.1
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_004035.7(ACOX1):c.-74dup duplication not provided [RCV001575016] Chr17:75979146..75979147 [GRCh38]
Chr17:73975227..73975228 [GRCh37]
Chr17:17q25.1
likely benign
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
NM_004035.7(ACOX1):c.1794G>T (p.Leu598=) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000960574] Chr17:75948392 [GRCh38]
Chr17:73944473 [GRCh37]
Chr17:17q25.1
benign
NM_006096.4(NDRG1):c.64-20dup single nucleotide variant not provided [RCV001707406] Chr17:75953837 [GRCh38]
Chr17:73949918 [GRCh37]
Chr17:17q25.1
benign
NM_000085.5(CLCNKB):c.101-50G>C single nucleotide variant not provided [RCV001680379] Chr17:75957323 [GRCh38]
Chr17:73953404 [GRCh37]
Chr17:17q25.1
benign
NM_004035.7(ACOX1):c.269+4517C>T single nucleotide variant not provided [RCV001571717] Chr17:75974017 [GRCh38]
Chr17:73970098 [GRCh37]
Chr17:17q25.1
likely benign
NM_000085.5(CLCNKB):c.101-50G>C single nucleotide variant Mitchell syndrome [RCV001543053]|Peroxisomal acyl-CoA oxidase deficiency [RCV001543054]|not provided [RCV001685466] Chr17:75955783 [GRCh38]
Chr17:73951864 [GRCh37]
Chr17:17q25.1
benign
NM_004035.7(ACOX1):c.1936-192C>T single nucleotide variant not provided [RCV001547346] Chr17:75946987 [GRCh38]
Chr17:73943068 [GRCh37]
Chr17:17q25.1
likely benign
NM_000085.5(CLCNKB):c.101-50G>C single nucleotide variant not provided [RCV001681775] Chr17:75949664 [GRCh38]
Chr17:73945745 [GRCh37]
Chr17:17q25.1
benign
GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3 copy number gain not provided [RCV000762750] Chr17:64159738..74891024 [GRCh37]
Chr17:17q24.1-25.2
likely pathogenic
null single nucleotide variant not provided [RCV001667340] Chr17:75973872 [GRCh38]
Chr17:73969953 [GRCh37]
Chr17:17q25.1
benign
NM_004035.7(ACOX1):c.538+71C>T single nucleotide variant not provided [RCV001546329] Chr17:75957388 [GRCh38]
Chr17:73953469 [GRCh37]
Chr17:17q25.1
likely benign
NM_004035.7(ACOX1):c.1302C>T (p.Phe434=) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000884832] Chr17:75949894 [GRCh38]
Chr17:73945975 [GRCh37]
Chr17:17q25.1
benign
NM_004035.7(ACOX1):c.72C>T (p.Asp24=) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000905523] Chr17:75979002 [GRCh38]
Chr17:73975083 [GRCh37]
Chr17:17q25.1
likely benign
NM_004035.7(ACOX1):c.945-4G>A single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000945024] Chr17:75951581 [GRCh38]
Chr17:73947662 [GRCh37]
Chr17:17q25.1
likely benign
NM_004035.7(ACOX1):c.405T>C (p.Thr135=) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000967651] Chr17:75960240 [GRCh38]
Chr17:73956321 [GRCh37]
Chr17:17q25.1
likely benign|conflicting interpretations of pathogenicity
NM_004035.7(ACOX1):c.1478+10C>G single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000943477] Chr17:75949708 [GRCh38]
Chr17:73945789 [GRCh37]
Chr17:17q25.1
likely benign
NM_004035.7(ACOX1):c.1520T>C (p.Ile507Thr) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000967935] Chr17:75949559 [GRCh38]
Chr17:73945640 [GRCh37]
Chr17:17q25.1
benign
NM_004035.7(ACOX1):c.813C>T (p.Asn271=) single nucleotide variant not provided [RCV000926100] Chr17:75953582 [GRCh38]
Chr17:73949663 [GRCh37]
Chr17:17q25.1
likely benign
NM_004035.7(ACOX1):c.574C>A (p.Gln192Lys) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000970654] Chr17:75955912 [GRCh38]
Chr17:73951993 [GRCh37]
Chr17:17q25.1
likely benign|conflicting interpretations of pathogenicity
NM_004035.7(ACOX1):c.1452C>T (p.Thr484=) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000944602] Chr17:75949744 [GRCh38]
Chr17:73945825 [GRCh37]
Chr17:17q25.1
likely benign
NC_000017.11:g.(?_75946738)_(75957576_?)del deletion Peroxisomal acyl-CoA oxidase deficiency [RCV001031140] Chr17:73942819..73953657 [GRCh37]
Chr17:17q25.1
likely pathogenic
NC_000017.11:g.(?_75960205)_(75960385_?)dup duplication Peroxisomal acyl-CoA oxidase deficiency [RCV001031453] Chr17:73956286..73956466 [GRCh37]
Chr17:17q25.1
likely pathogenic
NM_004035.7(ACOX1):c.324G>C (p.Leu108=) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001468479]|not provided [RCV000941388] Chr17:75960321 [GRCh38]
Chr17:73956402 [GRCh37]
Chr17:17q25.1
likely benign
NM_004035.7(ACOX1):c.804G>A (p.Pro268=) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000905668] Chr17:75953591 [GRCh38]
Chr17:73949672 [GRCh37]
Chr17:17q25.1
benign
NM_004035.7(ACOX1):c.1695T>C (p.Tyr565=) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000920089] Chr17:75949250 [GRCh38]
Chr17:73945331 [GRCh37]
Chr17:17q25.1
benign|conflicting interpretations of pathogenicity
NM_004035.7(ACOX1):c.39C>T (p.Ser13=) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000917390] Chr17:75979035 [GRCh38]
Chr17:73975116 [GRCh37]
Chr17:17q25.1
likely benign
NM_004035.7(ACOX1):c.1656A>G (p.Gln552=) single nucleotide variant not provided [RCV000901184] Chr17:75949289 [GRCh38]
Chr17:73945370 [GRCh37]
Chr17:17q25.1
likely benign
NM_004035.7(ACOX1):c.1236C>G (p.Val412=) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001485289]|not provided [RCV000978793] Chr17:75950836 [GRCh38]
Chr17:73946917 [GRCh37]
Chr17:17q25.1
likely benign
NM_004035.7(ACOX1):c.1311_1312del (p.Ser438fs) deletion Peroxisomal acyl-CoA oxidase deficiency [RCV000991404] Chr17:75949884..75949885 [GRCh38]
Chr17:73945965..73945966 [GRCh37]
Chr17:17q25.1
likely pathogenic
NM_004035.7(ACOX1):c.1717del (p.Asp573fs) deletion Peroxisomal acyl-CoA oxidase deficiency [RCV000812952] Chr17:75949228 [GRCh38]
Chr17:73945309 [GRCh37]
Chr17:17q25.1
pathogenic
NM_004035.7(ACOX1):c.1729-1G>A single nucleotide variant Muscle weakness [RCV000787367] Chr17:75948458 [GRCh38]
Chr17:73944539 [GRCh37]
Chr17:17q25.1
likely pathogenic
NM_004035.7(ACOX1):c.945-5C>T single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000978182] Chr17:75951582 [GRCh38]
Chr17:73947663 [GRCh37]
Chr17:17q25.1
likely benign
NM_004035.7(ACOX1):c.877C>T (p.Leu293=) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000915301] Chr17:75953518 [GRCh38]
Chr17:73949599 [GRCh37]
Chr17:17q25.1
likely benign
GRCh37/hg19 17q25.1(chr17:73596063-73959466)x3 copy number gain not provided [RCV000848371] Chr17:73596063..73959466 [GRCh37]
Chr17:17q25.1
uncertain significance
GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3 copy number gain not provided [RCV000849900] Chr17:62778720..81041938 [GRCh37]
Chr17:17q24.1-25.3
pathogenic
NM_004035.7(ACOX1):c.658+1G>T single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001210719] Chr17:75955827 [GRCh38]
Chr17:73951908 [GRCh37]
Chr17:17q25.1
likely pathogenic
NM_004035.7(ACOX1):c.*1738A>G single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001124599] Chr17:75945010 [GRCh38]
Chr17:73941091 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*2584C>A single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001127610] Chr17:75944164 [GRCh38]
Chr17:73940245 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*2021C>T single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001127615] Chr17:75944727 [GRCh38]
Chr17:73940808 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.320del (p.Phe107fs) deletion Peroxisomal acyl-CoA oxidase deficiency [RCV001250417] Chr17:75960325 [GRCh38]
Chr17:73956406 [GRCh37]
Chr17:17q25.1
pathogenic
NM_004035.7(ACOX1):c.1479-12A>G single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001125688] Chr17:75949612 [GRCh38]
Chr17:73945693 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*3421T>C single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001123398] Chr17:75943327 [GRCh38]
Chr17:73939408 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.430+181A>G single nucleotide variant not provided [RCV001575858] Chr17:75960034 [GRCh38]
Chr17:73956115 [GRCh37]
Chr17:17q25.1
likely benign
NM_004035.7(ACOX1):c.34G>C (p.Ala12Pro) single nucleotide variant Mitchell syndrome [RCV001559201]|Peroxisomal acyl-CoA oxidase deficiency [RCV001559233] Chr17:75979040 [GRCh38]
Chr17:73975121 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_013275.6(ANKRD11):c.88-71_88-70insAA single nucleotide variant not provided [RCV001580798] Chr17:75947082 [GRCh38]
Chr17:73943163 [GRCh37]
Chr17:17q25.1
likely benign
NM_004035.7(ACOX1):c.1936-87A>C single nucleotide variant not provided [RCV001560645] Chr17:75946882 [GRCh38]
Chr17:73942963 [GRCh37]
Chr17:17q25.1
likely benign
NM_000085.5(CLCNKB):c.101-50G>C single nucleotide variant Mitchell syndrome [RCV001543046]|Peroxisomal acyl-CoA oxidase deficiency [RCV001543047]|not provided [RCV001685465] Chr17:75946895 [GRCh38]
Chr17:73942976 [GRCh37]
Chr17:17q25.1
benign
NM_004035.7(ACOX1):c.1729-31T>G single nucleotide variant Mitchell syndrome [RCV001543048]|Peroxisomal acyl-CoA oxidase deficiency [RCV001543049]|not provided [RCV001655837] Chr17:75948488 [GRCh38]
Chr17:73944569 [GRCh37]
Chr17:17q25.1
benign
NM_000085.5(CLCNKB):c.101-50G>C single nucleotide variant Mitchell syndrome [RCV001543055]|Peroxisomal acyl-CoA oxidase deficiency [RCV001543056]|not provided [RCV001685467] Chr17:75973754 [GRCh38]
Chr17:73969835 [GRCh37]
Chr17:17q25.1
benign|likely benign
null single nucleotide variant not provided [RCV001589431] Chr17:75953147 [GRCh38]
Chr17:73949228 [GRCh37]
Chr17:17q25.1
likely benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) microsatellite not provided [RCV001598128] Chr17:75978723..75978726 [GRCh38]
Chr17:73974804..73974807 [GRCh37]
Chr17:17q25.1
benign
NM_004035.7(ACOX1):c.1936-195A>C single nucleotide variant not provided [RCV001556952] Chr17:75946990 [GRCh38]
Chr17:73943071 [GRCh37]
Chr17:17q25.1
likely benign
NM_004035.7(ACOX1):c.269+4539G>A single nucleotide variant not provided [RCV001551362] Chr17:75973995 [GRCh38]
Chr17:73970076 [GRCh37]
Chr17:17q25.1
likely benign
NM_004035.7(ACOX1):c.1944A>G (p.Glu648=) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000980063] Chr17:75946787 [GRCh38]
Chr17:73942868 [GRCh37]
Chr17:17q25.1
likely benign
NM_004035.7(ACOX1):c.720C>T (p.Leu240=) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000927803] Chr17:75955620 [GRCh38]
Chr17:73951701 [GRCh37]
Chr17:17q25.1
likely benign
NM_004035.7(ACOX1):c.497A>G (p.Asn166Ser) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000878989] Chr17:75957500 [GRCh38]
Chr17:73953581 [GRCh37]
Chr17:17q25.1
likely benign
NM_004035.7(ACOX1):c.1756A>G (p.Thr586Ala) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000892068] Chr17:75948430 [GRCh38]
Chr17:73944511 [GRCh37]
Chr17:17q25.1
likely benign
NM_004035.7(ACOX1):c.825C>T (p.Tyr275=) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000908526] Chr17:75953570 [GRCh38]
Chr17:73949651 [GRCh37]
Chr17:17q25.1
likely benign|conflicting interpretations of pathogenicity
NM_004035.7(ACOX1):c.339C>T (p.His113=) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000908538] Chr17:75960306 [GRCh38]
Chr17:73956387 [GRCh37]
Chr17:17q25.1
likely benign
NM_004035.7(ACOX1):c.1683G>A (p.Leu561=) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000977624] Chr17:75949262 [GRCh38]
Chr17:73945343 [GRCh37]
Chr17:17q25.1
likely benign
NM_004035.7(ACOX1):c.465G>A (p.Thr155=) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000919317] Chr17:75957532 [GRCh38]
Chr17:73953613 [GRCh37]
Chr17:17q25.1
likely benign
NM_004035.7(ACOX1):c.1458A>G (p.Ala486=) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000930762] Chr17:75949738 [GRCh38]
Chr17:73945819 [GRCh37]
Chr17:17q25.1
likely benign
NM_004035.7(ACOX1):c.840T>C (p.Phe280=) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000929273] Chr17:75953555 [GRCh38]
Chr17:73949636 [GRCh37]
Chr17:17q25.1
likely benign
NM_004035.7(ACOX1):c.618C>T (p.Ile206=) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV000918569] Chr17:75955868 [GRCh38]
Chr17:73951949 [GRCh37]
Chr17:17q25.1
likely benign
NM_004035.7(ACOX1):c.678C>T (p.Ile226=) single nucleotide variant not provided [RCV000907621] Chr17:75955662 [GRCh38]
Chr17:73951743 [GRCh37]
Chr17:17q25.1
likely benign
NM_004035.7(ACOX1):c.*3944G>A single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001127513] Chr17:75942804 [GRCh38]
Chr17:73938885 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*2575T>C single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001127611] Chr17:75944173 [GRCh38]
Chr17:73940254 [GRCh37]
Chr17:17q25.1
likely benign
NM_004035.7(ACOX1):c.276del (p.His93fs) deletion Peroxisomal acyl-CoA oxidase deficiency [RCV001068094] Chr17:75960369 [GRCh38]
Chr17:73956450 [GRCh37]
Chr17:17q25.1
pathogenic
NM_004035.7(ACOX1):c.*1756G>A single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001123516] Chr17:75944992 [GRCh38]
Chr17:73941073 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*2887C>G single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001124503] Chr17:75943861 [GRCh38]
Chr17:73939942 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*1743G>C single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001124598] Chr17:75945005 [GRCh38]
Chr17:73941086 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*1458A>G single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001124601] Chr17:75945290 [GRCh38]
Chr17:73941371 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*1276A>G single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001124602] Chr17:75945472 [GRCh38]
Chr17:73941553 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*1172A>T single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001124603] Chr17:75945576 [GRCh38]
Chr17:73941657 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.1790C>T (p.Thr597Ile) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001124684] Chr17:75948396 [GRCh38]
Chr17:73944477 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*4387G>C single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001125414] Chr17:75942361 [GRCh38]
Chr17:73938442 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.1936-91dup duplication not provided [RCV001550972] Chr17:75946876..75946877 [GRCh38]
Chr17:73942957..73942958 [GRCh37]
Chr17:17q25.1
likely benign
null single nucleotide variant not provided [RCV001637136] Chr17:75978805 [GRCh38]
Chr17:73974886 [GRCh37]
Chr17:17q25.1
benign
null single nucleotide variant not provided [RCV001669456] Chr17:75957241 [GRCh38]
Chr17:73953322 [GRCh37]
Chr17:17q25.1
benign
null single nucleotide variant not provided [RCV001596687] Chr17:75950561 [GRCh38]
Chr17:73946642 [GRCh37]
Chr17:17q25.1
benign
NM_004837.4(GGPS1):c.782G>A (p.Arg261His) AND MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, single nucleotide variant not provided [RCV001639113] Chr17:75955427 [GRCh38]
Chr17:73951508 [GRCh37]
Chr17:17q25.1
benign
null single nucleotide variant not provided [RCV001636593] Chr17:75956169 [GRCh38]
Chr17:73952250 [GRCh37]
Chr17:17q25.1
benign
NM_004006.3(DMD):c.5701G>A (p.Ala1901Thr) single nucleotide variant not provided [RCV001719668] Chr17:75960656 [GRCh38]
Chr17:73956737 [GRCh37]
Chr17:17q25.1
benign
NM_004360.5(CDH1):c.49-8C>T single nucleotide variant not provided [RCV001716877] Chr17:75950522 [GRCh38]
Chr17:73946603 [GRCh37]
Chr17:17q25.1
benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant not provided [RCV001598712] Chr17:75974050 [GRCh38]
Chr17:73970131 [GRCh37]
Chr17:17q25.1
benign
NM_004035.7(ACOX1):c.*3105C>T single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001124499] Chr17:75943643 [GRCh38]
Chr17:73939724 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*2926T>C single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001124502] Chr17:75943822 [GRCh38]
Chr17:73939903 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*2843A>G single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001124504] Chr17:75943905 [GRCh38]
Chr17:73939986 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*1678C>T single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001124600] Chr17:75945070 [GRCh38]
Chr17:73941151 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*3551G>A single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001123397] Chr17:75943197 [GRCh38]
Chr17:73939278 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*2021C>G single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001123514] Chr17:75944727 [GRCh38]
Chr17:73940808 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.460G>T (p.Ala154Ser) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001124774] Chr17:75957537 [GRCh38]
Chr17:73953618 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*4766G>A single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001124410] Chr17:75941982 [GRCh38]
Chr17:73938063 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*2746C>T single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001125512] Chr17:75944002 [GRCh38]
Chr17:73940083 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.1556C>T (p.Thr519Ile) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001125687] Chr17:75949523 [GRCh38]
Chr17:73945604 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.1468C>T (p.Arg490Cys) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001125690] Chr17:75949728 [GRCh38]
Chr17:73945809 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*3060T>C single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001124500] Chr17:75943688 [GRCh38]
Chr17:73939769 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*2977C>T single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001124501] Chr17:75943771 [GRCh38]
Chr17:73939852 [GRCh37]
Chr17:17q25.1
benign
NM_004035.7(ACOX1):c.538+1G>A single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001057444] Chr17:75957458 [GRCh38]
Chr17:73953539 [GRCh37]
Chr17:17q25.1
pathogenic
GRCh37/hg19 17q25.1-25.3(chr17:73261871-78608763)x3 copy number gain not provided [RCV001006919] Chr17:73261871..78608763 [GRCh37]
Chr17:17q25.1-25.3
pathogenic
NM_004035.7(ACOX1):c.408T>C (p.Tyr136=) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001124775] Chr17:75960237 [GRCh38]
Chr17:73956318 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*1096C>G single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001125600] Chr17:75945652 [GRCh38]
Chr17:73941733 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.208A>G (p.Met70Val) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001125766] Chr17:75978595 [GRCh38]
Chr17:73974676 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.122T>C (p.Leu41Pro) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001125767] Chr17:75978681 [GRCh38]
Chr17:73974762 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.774+11A>G single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001122013] Chr17:75955555 [GRCh38]
Chr17:73951636 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.737G>A (p.Arg246His) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001122014] Chr17:75955603 [GRCh38]
Chr17:73951684 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*4820T>C single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001123315] Chr17:75941928 [GRCh38]
Chr17:73938009 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*4806A>G single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001123316] Chr17:75941942 [GRCh38]
Chr17:73938023 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*3576T>G single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001123396] Chr17:75943172 [GRCh38]
Chr17:73939253 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*3915C>T single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001127514] Chr17:75942833 [GRCh38]
Chr17:73938914 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*3779A>G single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001127515] Chr17:75942969 [GRCh38]
Chr17:73939050 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*3665C>T single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001127516] Chr17:75943083 [GRCh38]
Chr17:73939164 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*5028T>G single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001123314] Chr17:75941720 [GRCh38]
Chr17:73937801 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*4585C>T single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001124411] Chr17:75942163 [GRCh38]
Chr17:73938244 [GRCh37]
Chr17:17q25.1
benign
NM_004035.7(ACOX1):c.*840A>T single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001127698] Chr17:75945908 [GRCh38]
Chr17:73941989 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.1123G>A (p.Ala375Thr) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001127786] Chr17:75950949 [GRCh38]
Chr17:73947030 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*3628C>T single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001123395] Chr17:75943120 [GRCh38]
Chr17:73939201 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*3207T>C single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001123400] Chr17:75943541 [GRCh38]
Chr17:73939622 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000085.5(CLCNKB):c.101-50G>C single nucleotide variant not provided [RCV001679663] Chr17:75951371 [GRCh38]
Chr17:73947452 [GRCh37]
Chr17:17q25.1
benign
NM_014053.4(FLVCR1):c.663C>T (p.Pro221=) single nucleotide variant not provided [RCV001649916] Chr17:75978865 [GRCh38]
Chr17:73974946 [GRCh37]
Chr17:17q25.1
benign
NM_006096.4(NDRG1):c.64-20dup single nucleotide variant not provided [RCV001707138] Chr17:75949448 [GRCh38]
Chr17:73945529 [GRCh37]
Chr17:17q25.1
benign
NM_004035.7(ACOX1):c.1729-58A>C single nucleotide variant Mitchell syndrome [RCV001543050]|Peroxisomal acyl-CoA oxidase deficiency [RCV001543051]|not provided [RCV001638135] Chr17:75948515 [GRCh38]
Chr17:73944596 [GRCh37]
Chr17:17q25.1
benign
NM_004035.7(ACOX1):c.*3228T>G single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001123399] Chr17:75943520 [GRCh38]
Chr17:73939601 [GRCh37]
Chr17:17q25.1
benign
NM_004035.7(ACOX1):c.*1985C>T single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001123515] Chr17:75944763 [GRCh38]
Chr17:73940844 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*678T>C single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001123607] Chr17:75946070 [GRCh38]
Chr17:73942151 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*2699C>G single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001125513] Chr17:75944049 [GRCh38]
Chr17:73940130 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.-76C>G single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001125769] Chr17:75979149 [GRCh38]
Chr17:73975230 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.1441G>A (p.Glu481Lys) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001061634] Chr17:75949755 [GRCh38]
Chr17:73945836 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.1333G>A (p.Gly445Arg) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001068609] Chr17:75949863 [GRCh38]
Chr17:73945944 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*2559G>C single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001127612] Chr17:75944189 [GRCh38]
Chr17:73940270 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*2451A>G single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001127613] Chr17:75944297 [GRCh38]
Chr17:73940378 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*2267A>G single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001127614] Chr17:75944481 [GRCh38]
Chr17:73940562 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*4489C>T single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001124412] Chr17:75942259 [GRCh38]
Chr17:73938340 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*4484A>G single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001125413] Chr17:75942264 [GRCh38]
Chr17:73938345 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*2688C>T single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001125514] Chr17:75944060 [GRCh38]
Chr17:73940141 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*1014A>G single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001125601] Chr17:75945734 [GRCh38]
Chr17:73941815 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.*959T>A single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001125602] Chr17:75945789 [GRCh38]
Chr17:73941870 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.1478+13T>C single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001125689] Chr17:75949705 [GRCh38]
Chr17:73945786 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.270-8C>G single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001125765] Chr17:75960383 [GRCh38]
Chr17:73956464 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.16C>A (p.Arg6Ser) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001125768]|not provided [RCV001357669] Chr17:75979058 [GRCh38]
Chr17:73975139 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.-92C>T single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001125770] Chr17:75979165 [GRCh38]
Chr17:73975246 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.1396del (p.Gln466fs) deletion Peroxisomal acyl-CoA oxidase deficiency [RCV001255151] Chr17:75949800 [GRCh38]
Chr17:73945881 [GRCh37]
Chr17:17q25.1
pathogenic
NM_004035.7(ACOX1):c.270-1_277delinsA indel Peroxisomal acyl-CoA oxidase deficiency [RCV001332371] Chr17:75960368..75960376 [GRCh38]
Chr17:73956449..73956457 [GRCh37]
Chr17:17q25.1
pathogenic
NM_004035.7(ACOX1):c.1771C>A (p.Arg591Ser) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001279294] Chr17:75948415 [GRCh38]
Chr17:73944496 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.1469G>A (p.Arg490His) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001279295] Chr17:75949727 [GRCh38]
Chr17:73945808 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.679G>A (p.Gly227Ser) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001260561]|not specified [RCV001586092] Chr17:75955661 [GRCh38]
Chr17:73951742 [GRCh37]
Chr17:17q25.1
likely pathogenic|uncertain significance
NM_004035.7(ACOX1):c.703A>G (p.Ile235Val) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001341238] Chr17:75955637 [GRCh38]
Chr17:73951718 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.1299-9G>C single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001422582] Chr17:75949906 [GRCh38]
Chr17:73945987 [GRCh37]
Chr17:17q25.1
likely benign
NM_004035.7(ACOX1):c.294G>A (p.Glu98=) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001392341] Chr17:75960351 [GRCh38]
Chr17:73956432 [GRCh37]
Chr17:17q25.1
likely benign
GRCh37/hg19 17q25.1(chr17:73926095-73949575)x3 copy number gain not provided [RCV001270663] Chr17:73926095..73949575 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.269+4909G>A single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001330376] Chr17:75973625 [GRCh38]
Chr17:73969706 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.521A>G (p.Lys174Arg) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001336107] Chr17:75957476 [GRCh38]
Chr17:73953557 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_004035.7(ACOX1):c.1593C>T (p.Cys531=) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001394628] Chr17:75949352 [GRCh38]
Chr17:73945433 [GRCh37]
Chr17:17q25.1
likely benign
NM_004035.7(ACOX1):c.270-5C>T single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001413524] Chr17:75960380 [GRCh38]
Chr17:73956461 [GRCh37]
Chr17:17q25.1
likely benign
NM_004035.7(ACOX1):c.1038A>T (p.Ala346=) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001395790] Chr17:75951484 [GRCh38]
Chr17:73947565 [GRCh37]
Chr17:17q25.1
likely benign
NM_004035.7(ACOX1):c.1554A>C (p.Leu518=) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001413742] Chr17:75949525 [GRCh38]
Chr17:73945606 [GRCh37]
Chr17:17q25.1
likely benign
NM_004035.7(ACOX1):c.351G>A (p.Ala117=) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001395091] Chr17:75960294 [GRCh38]
Chr17:73956375 [GRCh37]
Chr17:17q25.1
likely benign
NM_004035.7(ACOX1):c.771C>G (p.Ala257=) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001435614] Chr17:75955569 [GRCh38]
Chr17:73951650 [GRCh37]
Chr17:17q25.1
likely benign
NM_004035.7(ACOX1):c.1710C>T (p.Asn570=) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001504193] Chr17:75949235 [GRCh38]
Chr17:73945316 [GRCh37]
Chr17:17q25.1
likely benign
NM_004035.7(ACOX1):c.658+9T>C single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001495979] Chr17:75955819 [GRCh38]
Chr17:73951900 [GRCh37]
Chr17:17q25.1
likely benign
NM_004035.7(ACOX1):c.110-10C>T single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001499095] Chr17:75978703 [GRCh38]
Chr17:73974784 [GRCh37]
Chr17:17q25.1
likely benign
NM_004035.7(ACOX1):c.1108-8C>G single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001491277] Chr17:75950972 [GRCh38]
Chr17:73947053 [GRCh37]
Chr17:17q25.1
likely benign
NM_004035.7(ACOX1):c.636C>T (p.Ile212=) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001431159] Chr17:75955850 [GRCh38]
Chr17:73951931 [GRCh37]
Chr17:17q25.1
likely benign
NM_004035.7(ACOX1):c.1968G>A (p.Leu656=) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001479327] Chr17:75946763 [GRCh38]
Chr17:73942844 [GRCh37]
Chr17:17q25.1
likely benign
NM_004035.7(ACOX1):c.927G>A (p.Gln309=) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001454883] Chr17:75953468 [GRCh38]
Chr17:73949549 [GRCh37]
Chr17:17q25.1
likely benign
NM_004035.7(ACOX1):c.1209T>C (p.His403=) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001471606] Chr17:75950863 [GRCh38]
Chr17:73946944 [GRCh37]
Chr17:17q25.1
likely benign
NM_004035.7(ACOX1):c.996T>C (p.Phe332=) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001491556] Chr17:75951526 [GRCh38]
Chr17:73947607 [GRCh37]
Chr17:17q25.1
likely benign
NM_004035.7(ACOX1):c.246T>C (p.Pro82=) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001492825] Chr17:75978557 [GRCh38]
Chr17:73974638 [GRCh37]
Chr17:17q25.1
likely benign
NM_004035.7(ACOX1):c.1356G>A (p.Val452=) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001499778] Chr17:75949840 [GRCh38]
Chr17:73945921 [GRCh37]
Chr17:17q25.1
likely benign
NM_004035.7(ACOX1):c.654G>A (p.Leu218=) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001483046] Chr17:75955832 [GRCh38]
Chr17:73951913 [GRCh37]
Chr17:17q25.1
likely benign
NM_004035.7(ACOX1):c.1251C>T (p.Ser417=) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001442329] Chr17:75950821 [GRCh38]
Chr17:73946902 [GRCh37]
Chr17:17q25.1
likely benign
NM_004035.7(ACOX1):c.795C>T (p.Tyr265=) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001468252] Chr17:75953600 [GRCh38]
Chr17:73949681 [GRCh37]
Chr17:17q25.1
likely benign
NM_004035.7(ACOX1):c.538+10T>C single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001466130] Chr17:75957449 [GRCh38]
Chr17:73953530 [GRCh37]
Chr17:17q25.1
likely benign
NM_004035.7(ACOX1):c.1908T>C (p.Ala636=) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001437770] Chr17:75948278 [GRCh38]
Chr17:73944359 [GRCh37]
Chr17:17q25.1
likely benign
NM_004035.7(ACOX1):c.546G>A (p.Lys182=) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001493283] Chr17:75955940 [GRCh38]
Chr17:73952021 [GRCh37]
Chr17:17q25.1
likely benign
NM_004035.7(ACOX1):c.944+8T>C single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001393648] Chr17:75953443 [GRCh38]
Chr17:73949524 [GRCh37]
Chr17:17q25.1
likely benign
NM_004035.7(ACOX1):c.1716G>C (p.Gly572=) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001393728] Chr17:75949229 [GRCh38]
Chr17:73945310 [GRCh37]
Chr17:17q25.1
likely benign
NM_004035.7(ACOX1):c.1099C>T (p.Leu367=) single nucleotide variant Peroxisomal acyl-CoA oxidase deficiency [RCV001403059] Chr17