STAR (steroidogenic acute regulatory protein) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: STAR (steroidogenic acute regulatory protein) Homo sapiens
Analyze
Symbol: STAR
Name: steroidogenic acute regulatory protein
RGD ID: 735413
HGNC Page HGNC
Description: Enables cholesterol binding activity. Involved in positive regulation of bile acid biosynthetic process. Predicted to be located in several cellular components, including cytosol; mitochondrial crista; and neuronal cell body. Predicted to be active in mitochondrial intermembrane space. Implicated in congenital adrenal hyperplasia.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: cholesterol trafficker; mitochondrial steroid acute regulatory protein; StAR related lipid transfer (START) domain containing 1; StAR-related lipid transfer (START) domain containing 1; STARD1; START domain containing 1; START domain-containing protein 1; steroid acute regulatory protein; steroidogenic acute regulator; steroidogenic acute regulatory protein, mitochondrial; testis secretory sperm-binding protein Li 241mP
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: STARP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl838,142,700 - 38,150,992 (-)EnsemblGRCh38hg38GRCh38
GRCh38838,142,700 - 38,150,952 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37838,000,218 - 38,008,470 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36838,119,375 - 38,127,757 (-)NCBINCBI36hg18NCBI36
Build 34838,119,374 - 38,127,757NCBI
Celera836,952,763 - 36,961,143 (-)NCBI
Cytogenetic Map8p11.23NCBI
HuRef836,535,200 - 36,543,580 (-)NCBIHuRef
CHM1_1838,201,783 - 38,210,163 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-alpha-tocopherol  (ISO)
(+)-dexrazoxane  (ISO)
(+)-pilocarpine  (ISO)
(-)-anisomycin  (ISO)
(-)-citrinin  (ISO)
(25R)-cholest-5-ene-3beta,26-diol  (EXP,ISO)
(6aR,11aS,11bR)-10-acetyl-11-hydroxy-7,7-dimethyl-2,6,6a,7,11a,11b-hexahydro-9H-pyrrolo[1',2':2,3]isoindolo[4,5,6-cd]indol-9-one  (ISO)
(R)-lipoic acid  (ISO)
(S)-nicotine  (EXP,ISO)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1,2-dichloroethane  (ISO)
1,3-dichloropropan-2-ol  (ISO)
1,3-dinitrobenzene  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
17beta-hydroxy-5alpha-androstan-3-one  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3-bis(4-hydroxyphenyl)propionitrile  (EXP)
2,4,6-tribromophenol  (EXP)
2,4,6-trichlorophenol  (EXP)
2,4-dibromophenol  (EXP)
2,6-dibromophenol  (EXP)
2-(3,4-dimethoxyphenyl)-5-\{[2-(3,4-dimethoxyphenyl)ethyl](methyl)amino\}-2-(propan-2-yl)pentanenitrile  (ISO)
2-bromophenol  (EXP)
2-butoxyethanol  (ISO)
2-methoxyethanol  (ISO)
2-tert-butylhydroquinone  (ISO)
22-Hydroxycholesterol  (EXP)
25-hydroxycholesterol  (EXP)
26-hydroxycholesterol  (EXP,ISO)
3',5'-cyclic AMP  (ISO)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (EXP)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3,3',5-triiodo-L-thyronine  (ISO)
3,3,4,4,5,5,6,6,7,7,8,8,9,9,10,10,10-heptadecafluoro-1-decanol  (EXP)
3,4-dichloroaniline  (EXP)
3-\{1-[3-(dimethylamino)propyl]-1H-indol-3-yl\}-4-(1H-indol-3-yl)-1H-pyrrole-2,5-dione  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP,ISO)
4,4'-diaminodiphenylmethane  (EXP)
4,4'-sulfonyldiphenol  (ISO)
4-nonylphenol  (ISO)
4-tert-Octylphenol  (ISO)
4-vinylcyclohexene dioxide  (ISO)
5-formyltetrahydrofolic acid  (ISO)
6-propyl-2-thiouracil  (ISO)
8-Br-cAMP  (EXP,ISO)
acetaldehyde  (ISO)
acetamiprid  (ISO)
acrylamide  (ISO)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (EXP,ISO)
allethrin  (ISO)
alpha-hexachlorocyclohexane  (ISO)
aminoglutethimide  (EXP,ISO)
ammonium chloride  (ISO)
androgen antagonist  (ISO)
antalarmin  (EXP)
anthra[1,9-cd]pyrazol-6(2H)-one  (ISO)
antimycin A  (ISO)
apocynin  (ISO)
arachidonic acid  (ISO)
aristolochic acid  (EXP)
Aroclor 1254  (ISO)
arsenous acid  (EXP)
astressin  (EXP)
atorvastatin calcium  (ISO)
atrazine  (EXP,ISO)
benzo[a]pyrene  (EXP,ISO)
benzofurans  (EXP)
bifenthrin  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol A diglycidyl ether  (ISO)
bisphenol F  (ISO)
bromocriptine  (ISO)
bucladesine  (EXP,ISO)
budesonide  (ISO)
Butylbenzyl phthalate  (ISO)
Butylparaben  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
caffeine  (EXP,ISO)
calcium atom  (ISO)
calcium(0)  (ISO)
carbaryl  (EXP)
celecoxib  (ISO)
cetrorelix  (EXP)
chlormequat chloride  (ISO)
chlorogenic acid  (ISO)
chlorohydrocarbon  (ISO)
chloroquine  (ISO)
chlorpyrifos  (ISO)
cholesterol  (EXP,ISO)
cholesterol sulfate  (EXP)
Chorionic gonadotropin  (ISO)
chromium atom  (ISO)
chromium(6+)  (ISO)
chrysin  (ISO)
ciglitazone  (ISO)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP,ISO)
clobetasol  (ISO)
clofibrate  (ISO)
colforsin daropate hydrochloride  (EXP,ISO)
copper(II) sulfate  (EXP)
cortisol  (EXP)
cyclosporin A  (EXP)
cyhalothrin  (ISO)
cypermethrin  (ISO)
cyproconazole  (ISO)
daidzein  (ISO)
daidzein 7-O-beta-D-glucoside  (ISO)
dantrolene  (ISO)
DDE  (ISO)
decabromodiphenyl ether  (ISO)
delta-hexachlorocyclohexane  (ISO)
deoxynivalenol  (ISO)
dexamethasone  (EXP,ISO)
Di-n-hexyl phthalate  (ISO)
diarsenic trioxide  (EXP)
diazinon  (ISO)
dibutyl phthalate  (EXP,ISO)
Dicyclohexyl phthalate  (ISO)
diethyl phthalate  (ISO)
diethylstilbestrol  (ISO)
diheptyl phthalate  (ISO)
diisobutyl phthalate  (ISO)
Diisodecyl phthalate  (ISO)
diisononyl phthalate  (ISO)
diltiazem  (ISO)
dimethoate  (ISO)
Dimethyl phthalate  (ISO)
dioxygen  (ISO)
dipentyl phthalate  (ISO)
disodium selenite  (ISO)
dorsomorphin  (EXP)
doxorubicin  (ISO)
ellagic acid  (ISO)
endosulfan  (ISO)
enilconazole  (ISO)
enniatin  (EXP)
entinostat  (EXP)
epoxiconazole  (ISO)
ethanol  (EXP,ISO)
ethylene glycol bis(2-aminoethyl)tetraacetic acid  (ISO)
fenvalerate  (ISO)
ferulic acid  (ISO)
fluconazole  (EXP)
flufenoxuron  (ISO)
fluoxetine  (ISO)
flutamide  (ISO)
fulvestrant  (EXP,ISO)
furan  (ISO)
fursultiamine  (ISO)
gamma-hexachlorocyclohexane  (EXP,ISO)
Geniposidic acid  (ISO)
genistein  (EXP,ISO)
genistein 7-O-beta-D-glucoside  (ISO)
glycitein  (ISO)
glycitin  (ISO)
glyphosate  (ISO)
GW 3965  (EXP)
hexane  (ISO)
hydrogen peroxide  (ISO)
imidacloprid  (ISO)
indometacin  (EXP)
iodoacetic acid  (ISO)
isoliquiritigenin  (ISO)
Isradipine  (ISO)
ketoconazole  (ISO)
L-ascorbic acid  (ISO)
lamivudine  (ISO)
lead diacetate  (ISO)
lead(0)  (ISO)
lead(2+)  (ISO)
levetiracetam  (EXP)
linuron  (ISO)
lipoic acid  (ISO)
lipopolysaccharide  (ISO)
luteolin  (ISO)
lycopene  (ISO)
malathion  (ISO)
manganese atom  (ISO)
manganese(0)  (ISO)
manganese(II) chloride  (EXP,ISO)
Matrine  (ISO)
mercury dichloride  (ISO)
metformin  (ISO)
methotrexate  (ISO)
methoxychlor  (ISO)
midazolam  (ISO)
mifepristone  (EXP,ISO)
Mitotane  (EXP)
mono(2-ethylhexyl) phthalate  (EXP,ISO)
monobenzyl phthalate  (ISO)
Monobutylphthalate  (ISO)
monoethyl phthalate  (ISO)
morin  (ISO)
myricetin  (ISO)
N(gamma)-nitro-L-arginine methyl ester  (ISO)
N-[2-(4-bromocinnamylamino)ethyl]isoquinoline-5-sulfonamide  (ISO)
N-[2-(methylamino)ethyl]isoquinoline-5-sulfonamide  (ISO)
N-acetyl-L-cysteine  (EXP,ISO)
N-nitrosodiethylamine  (ISO)
nickel sulfate  (ISO)
nicotine  (EXP,ISO)
nicotinic acid  (ISO)
nifedipine  (ISO)
nigericin  (ISO)
nimodipine  (ISO)
Nonylphenol  (ISO)
octreotide  (ISO)
p-tert-Amylphenol  (ISO)
paracetamol  (ISO)
pasireotide  (ISO)
pentachlorophenol  (EXP)
perflubron  (EXP)
perfluorododecanoic acid  (ISO)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (ISO)
permethrin  (ISO)
phenylarsine oxide  (ISO)
phenylmercury acetate  (EXP)
phorbol 13-acetate 12-myristate  (ISO)
Piperophos  (ISO)
pirinixic acid  (ISO)
potassium dichromate  (ISO)
probucol  (ISO)
prochloraz  (EXP,ISO)
profenofos  (ISO)
progesterone  (EXP,ISO)
propylparaben  (ISO)
prostaglandin E2  (EXP)
quercetin  (ISO)
quinalphos  (ISO)
resveratrol  (EXP,ISO)
rolipram  (EXP,ISO)
rotenone  (EXP)
rutin  (ISO)
ryanodine  (ISO)
SB 203580  (EXP,ISO)
SB 431542  (EXP,ISO)
sertraline  (ISO)
sildenafil citrate  (ISO)
silver atom  (ISO)
silver(0)  (ISO)
simvastatin  (ISO)
sodium arsenate  (ISO)
sodium arsenite  (ISO)
sodium fluoride  (ISO)
sulfasalazine  (ISO)
sulfur dioxide  (ISO)
sulpiride  (ISO)
T-2 toxin  (EXP,ISO)
tangeretin  (ISO)
taurine  (ISO)
TEMPO  (ISO)
terbutylazine  (ISO)
testosterone  (EXP,ISO)
testosterone enanthate  (EXP,ISO)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
torcetrapib  (EXP)
tributylstannane  (EXP,ISO)
trichlorfon  (EXP,ISO)
trichostatin A  (EXP,ISO)
triclosan  (ISO)
trimethyltin  (ISO)
triphenyl phosphate  (ISO)
triphenylstannane  (EXP,ISO)
Triptolide  (ISO)
tris(2-chloroethyl) phosphate  (ISO)
tyrphostin AG 1478  (EXP)
uranium atom  (ISO)
valproic acid  (EXP,ISO)
vecuronium bromide  (ISO)
verapamil  (ISO)
vinclozolin  (ISO)
vitamin E  (ISO)
wortmannin  (ISO)
zearalenone  (ISO)
zidovudine  (ISO)
ziram  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
bile acid biosynthetic process  (IEA,ISO)
biphenyl metabolic process  (IEA,ISO)
brain development  (IEA,ISO)
cellular lipid metabolic process  (ISO)
cellular response to alkaloid  (IEA,ISO)
cellular response to antibiotic  (IEA,ISO)
cellular response to cadmium ion  (IEA,ISO)
cellular response to cAMP  (IEA,ISO)
cellular response to dexamethasone stimulus  (IEA,ISO)
cellular response to epinephrine stimulus  (IEA,ISO)
cellular response to fibroblast growth factor stimulus  (IEA,ISO)
cellular response to follicle-stimulating hormone stimulus  (IEA,ISO)
cellular response to glucose stimulus  (IEA,ISO)
cellular response to gonadotropin stimulus  (ISO)
cellular response to growth hormone stimulus  (IEA,ISO)
cellular response to insulin stimulus  (IEA,ISO)
cellular response to interferon-alpha  (IEA,ISO)
cellular response to interferon-gamma  (IEA,ISO)
cellular response to lipopolysaccharide  (IEA,ISO)
cellular response to luteinizing hormone stimulus  (IEA,ISO)
cellular response to metal ion  (ISO)
cellular response to organic cyclic compound  (ISO)
cellular response to transforming growth factor beta stimulus  (IEA,ISO)
cholesterol metabolic process  (IEA)
circadian rhythm  (ISO)
circadian sleep/wake cycle, REM sleep  (IEA,ISO)
dibenzo-p-dioxin metabolic process  (IEA,ISO)
diterpenoid metabolic process  (IEA,ISO)
estrogen biosynthetic process  (IEA,ISO)
glucocorticoid metabolic process  (IEA,ISO)
insecticide metabolic process  (IEA,ISO)
intermembrane lipid transfer  (IEA)
intracellular cholesterol transport  (IBA,ISO)
male gonad development  (IEA,ISO)
negative regulation of neuron apoptotic process  (IEA,ISO)
organic acid metabolic process  (ISO)
phenol-containing compound metabolic process  (IEA,ISO)
phthalate metabolic process  (IEA,ISO)
positive regulation of bile acid biosynthetic process  (IDA)
positive regulation of gene expression  (IEA,ISO)
positive regulation of neurogenesis  (IEA,ISO)
regulation of neuronal synaptic plasticity  (IEA,ISO)
regulation of steroid biosynthetic process  (IBA,ISO)
response to activity  (IEA,ISO)
response to antibiotic  (ISO)
response to corticosterone  (IEA,ISO)
response to estrogen  (IEA,ISO)
response to ethanol  (IEA,ISO)
response to fungicide  (IEA,ISO)
response to gonadotropin  (ISO)
response to herbicide  (IEA,ISO)
response to hydrogen peroxide  (IEA,ISO)
response to insecticide  (ISO)
response to ionizing radiation  (IEA,ISO)
response to lead ion  (IEA,ISO)
response to leptin  (IEA,ISO)
response to nicotine  (IEA,ISO)
response to nutrient  (IEA,ISO)
response to nutrient levels  (ISO)
response to organic cyclic compound  (ISO)
response to organic substance  (ISO)
response to peptide hormone  (ISO)
response to steroid hormone  (ISO)
response to toxic substance  (ISO)
response to xenobiotic stimulus  (IEA,ISO)
steroid biosynthetic process  (IBA,IEA)
sterol transport  (IEA)
testosterone biosynthetic process  (IEA,ISO)

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:7547998   PMID:7548191   PMID:7761400   PMID:8619474   PMID:8943003   PMID:8948562   PMID:9097960   PMID:9110174   PMID:9188726   PMID:9398748   PMID:9804848   PMID:10323391  
PMID:10548884   PMID:10566637   PMID:10802740   PMID:11061515   PMID:11145563   PMID:11489878   PMID:12044915   PMID:12372832   PMID:12477932   PMID:12530644   PMID:12727988   PMID:12834921  
PMID:12843197   PMID:12909641   PMID:12925534   PMID:12933667   PMID:14565954   PMID:14702039   PMID:14726488   PMID:14764819   PMID:15181096   PMID:15489334   PMID:15546900   PMID:15583024  
PMID:15666812   PMID:15777208   PMID:15897605   PMID:15985476   PMID:16162390   PMID:16169070   PMID:16234239   PMID:16901925   PMID:16973755   PMID:16990645   PMID:17374711   PMID:17433772  
PMID:17666473   PMID:18000307   PMID:18084157   PMID:18191841   PMID:18250166   PMID:18331352   PMID:18341481   PMID:18403318   PMID:18450961   PMID:18490834   PMID:18505908   PMID:18583320  
PMID:18636124   PMID:18665078   PMID:18729825   PMID:18829024   PMID:18945429   PMID:19001523   PMID:19022561   PMID:19095060   PMID:19231010   PMID:19271249   PMID:19272380   PMID:19426868  
PMID:19453261   PMID:19744555   PMID:19849856   PMID:19899816   PMID:19903795   PMID:19913121   PMID:19930843   PMID:19946756   PMID:20199803   PMID:20379614   PMID:20444910   PMID:20601698  
PMID:20628086   PMID:20660033   PMID:20734064   PMID:20877624   PMID:21145937   PMID:21147196   PMID:21164258   PMID:21217523   PMID:21334384   PMID:21350237   PMID:21647419   PMID:21846663  
PMID:21873635   PMID:22213075   PMID:22253417   PMID:22634420   PMID:23029457   PMID:23158025   PMID:23211570   PMID:23330251   PMID:23748066   PMID:23825130   PMID:23920000   PMID:24053410  
PMID:24124408   PMID:24140593   PMID:24422629   PMID:25001622   PMID:25002576   PMID:25416956   PMID:25910212   PMID:26001835   PMID:26014698   PMID:26271515   PMID:26871637   PMID:27386819  
PMID:27606678   PMID:27614897   PMID:27813675   PMID:28153708   PMID:28232277   PMID:28467518   PMID:28576490   PMID:28974714   PMID:29408456   PMID:30595381   PMID:30922932   PMID:31029706  
PMID:32068072   PMID:32296183   PMID:32633081   PMID:32814053   PMID:32867102   PMID:33227378  


Genomics

Comparative Map Data
STAR
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl838,142,700 - 38,150,992 (-)EnsemblGRCh38hg38GRCh38
GRCh38838,142,700 - 38,150,952 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37838,000,218 - 38,008,470 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36838,119,375 - 38,127,757 (-)NCBINCBI36hg18NCBI36
Build 34838,119,374 - 38,127,757NCBI
Celera836,952,763 - 36,961,143 (-)NCBI
Cytogenetic Map8p11.23NCBI
HuRef836,535,200 - 36,543,580 (-)NCBIHuRef
CHM1_1838,201,783 - 38,210,163 (-)NCBICHM1_1
Star
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39826,298,502 - 26,306,010 (+)NCBIGRCm39mm39
GRCm39 Ensembl826,296,583 - 26,306,010 (+)Ensembl
GRCm38825,808,474 - 25,815,982 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl825,806,555 - 25,815,982 (+)EnsemblGRCm38mm10GRCm38
MGSCv37826,918,985 - 26,926,454 (+)NCBIGRCm37mm9NCBIm37
MGSCv36827,274,058 - 27,281,527 (+)NCBImm8
Celera827,276,742 - 27,284,211 (+)NCBICelera
Cytogenetic Map8A2NCBI
cM Map814.17NCBI
Star
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21666,267,094 - 66,274,368 (-)NCBImRatBN7.2
Rnor_6.0 Ensembl1671,036,204 - 71,040,847 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01671,036,204 - 71,040,847 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01670,700,880 - 70,705,523 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41670,642,580 - 70,647,203 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11670,640,558 - 70,647,408 (-)NCBI
Celera1664,176,969 - 64,181,592 (-)NCBICelera
RH 3.4 Map16622.1RGD
Cytogenetic Map16q12.4NCBI
Star
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495546313,760,089 - 13,765,244 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495546313,760,089 - 13,765,245 (-)NCBIChiLan1.0ChiLan1.0
STAR
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1834,622,577 - 34,629,912 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl834,623,201 - 34,629,544 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0837,446,334 - 37,454,102 (-)NCBIMhudiblu_PPA_v0panPan3
STAR
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11627,326,355 - 27,331,025 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1627,326,355 - 27,331,025 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1627,843,664 - 27,848,334 (+)NCBI
ROS_Cfam_1.01629,225,542 - 29,230,211 (+)NCBI
UMICH_Zoey_3.11627,447,844 - 27,452,510 (+)NCBI
UNSW_CanFamBas_1.01628,025,113 - 28,029,783 (+)NCBI
UU_Cfam_GSD_1.01628,064,539 - 28,069,208 (+)NCBI
Star
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494349,930,968 - 49,937,924 (+)NCBI
SpeTri2.0NW_0049367101,523,289 - 1,530,181 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
STAR
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1548,347,864 - 48,385,464 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11548,377,597 - 48,385,398 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21555,502,030 - 55,509,987 (+)NCBISscrofa10.2Sscrofa10.2susScr3
STAR
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1836,164,891 - 36,174,424 (-)NCBI
ChlSab1.1 Ensembl836,167,694 - 36,174,583 (-)Ensembl
Vero_WHO_p1.0NW_0236660525,817,058 - 5,826,880 (+)NCBI
Star
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247805,494,430 - 5,501,063 (+)NCBI

Position Markers
G15988  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371365,885,062 - 65,885,174UniSTSGRCh37
GRCh37838,008,312 - 38,008,436UniSTSGRCh37
Build 36838,127,469 - 38,127,593RGDNCBI36
Celera1346,785,491 - 46,785,603UniSTS
Celera836,960,855 - 36,960,979RGD
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map13q21.32UniSTS
HuRef1346,582,152 - 46,582,264UniSTS
HuRef836,543,292 - 36,543,416UniSTS
STAR_2298  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37838,001,159 - 38,001,892UniSTSGRCh37
Build 36838,120,316 - 38,121,049RGDNCBI36
Celera836,953,703 - 36,954,436RGD
HuRef836,536,140 - 36,536,873UniSTS
D8S2291  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371365,884,234 - 65,884,526UniSTSGRCh37
GRCh37838,003,525 - 38,003,956UniSTSGRCh37
Build 36838,122,682 - 38,123,113RGDNCBI36
Celera1346,784,663 - 46,784,955UniSTS
Celera836,956,067 - 36,956,498RGD
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map13q21.32UniSTS
HuRef1346,581,324 - 46,581,616UniSTS
HuRef836,538,504 - 36,538,935UniSTS
SGC31588  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37838,001,577 - 38,001,779UniSTSGRCh37
Build 36838,120,734 - 38,120,936RGDNCBI36
Celera836,954,121 - 36,954,323RGD
Cytogenetic Map8p11.2UniSTS
HuRef836,536,558 - 36,536,760UniSTS
GeneMap99-GB4 RH Map8148.97UniSTS
Whitehead-RH Map8190.9UniSTS
D11S3114  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map10q11.1-q24UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic MapXq13.1-q21.1UniSTS
Cytogenetic Map20pter-q12UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map9p23UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map6p12UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map22q12.3-q13.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map19q11UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map1p32.2-p32.1UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map4q13.2UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map14q24.2UniSTS
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

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:991
Count of miRNA genes:590
Interacting mature miRNAs:661
Transcripts:ENST00000276449, ENST00000520114, ENST00000521236, ENST00000522050
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 258 91
Medium 9 12 22 2 32 1 101 9 113 5 510 12 1 14 42
Low 903 771 557 150 854 91 1979 474 2638 49 407 458 62 480 1072 1
Below cutoff 1395 1985 706 353 950 254 1985 1502 918 235 373 968 105 679 1460 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC084024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF035277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH006622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK090513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL526126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AV706111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AV706872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AV707696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AV708514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY532319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR541850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ194260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ194261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ243706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM005654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN001326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S79669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U17280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000276449   ⟹   ENSP00000276449
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl838,142,700 - 38,150,952 (-)Ensembl
RefSeq Acc Id: ENST00000520114
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl838,143,652 - 38,150,992 (-)Ensembl
RefSeq Acc Id: ENST00000521236   ⟹   ENSP00000430030
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl838,146,363 - 38,149,118 (-)Ensembl
RefSeq Acc Id: ENST00000522050   ⟹   ENSP00000429009
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl838,144,225 - 38,148,754 (-)Ensembl
RefSeq Acc Id: NM_000349   ⟹   NP_000340
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38838,142,700 - 38,150,952 (-)NCBI
GRCh37838,000,218 - 38,008,783 (-)NCBI
Build 36838,119,375 - 38,127,757 (-)NCBI Archive
HuRef836,535,200 - 36,543,580 (-)ENTREZGENE
CHM1_1838,201,783 - 38,210,163 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000340   ⟸   NM_000349
- UniProtKB: P49675 (UniProtKB/Swiss-Prot),   Q6IBK0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000430030   ⟸   ENST00000521236
RefSeq Acc Id: ENSP00000429009   ⟸   ENST00000522050
RefSeq Acc Id: ENSP00000276449   ⟸   ENST00000276449
Protein Domains
START

Promoters
RGD ID:6807049
Promoter ID:HG_KWN:61131
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid,   NB4
Transcripts:NM_000349,   UC010LWB.1,   UC010LWC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36838,127,556 - 38,128,657 (-)MPROMDB
RGD ID:7213119
Promoter ID:EPDNEW_H12304
Type:initiation region
Name:STAR_1
Description:steroidogenic acute regulatory protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12305  EPDNEW_H12306  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38838,150,952 - 38,151,012EPDNEW
RGD ID:7213117
Promoter ID:EPDNEW_H12305
Type:initiation region
Name:STAR_2
Description:steroidogenic acute regulatory protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12304  EPDNEW_H12306  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38838,151,270 - 38,151,330EPDNEW
RGD ID:7213121
Promoter ID:EPDNEW_H12306
Type:multiple initiation site
Name:STAR_3
Description:steroidogenic acute regulatory protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12305  EPDNEW_H12304  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38838,152,884 - 38,152,944EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
STAR, IVS4AS, T-A, -11 single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000009549] Chr8:8p11.2 pathogenic
STAR, 1-BP DEL, 261T deletion Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000009552] Chr8:8p11.2 pathogenic
NM_000349.3(STAR):c.178+2dup duplication Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000009553] Chr8:38148638..38148639 [GRCh38]
Chr8:38006156..38006157 [GRCh37]
Chr8:8p11.23
pathogenic
STAR, IVS1, G-T, +1 single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000009557] Chr8:8p11.2 pathogenic
STAR, 2-BP DEL, 201CT deletion Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000009561] Chr8:8p11.2 pathogenic
NM_000349.3(STAR):c.505G>A (p.Glu169Lys) single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000668944]|not provided [RCV000517184] Chr8:38146108 [GRCh38]
Chr8:38003626 [GRCh37]
Chr8:8p11.23
pathogenic|likely pathogenic
NM_000349.3(STAR):c.772C>T (p.Gln258Ter) single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000009550]|not provided [RCV000809822] Chr8:38144359 [GRCh38]
Chr8:38001877 [GRCh37]
Chr8:8p11.23
pathogenic
NM_000349.3(STAR):c.545G>T (p.Arg182Leu) single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000009551] Chr8:38146068 [GRCh38]
Chr8:38003586 [GRCh37]
Chr8:8p11.23
pathogenic
NM_000349.3(STAR):c.749G>A (p.Trp250Ter) single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000009554]|not provided [RCV001046840] Chr8:38144382 [GRCh38]
Chr8:38001900 [GRCh37]
Chr8:8p11.23
pathogenic
NM_000349.3(STAR):c.650G>C (p.Arg217Thr) single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000009555] Chr8:38145963 [GRCh38]
Chr8:38003481 [GRCh37]
Chr8:8p11.23
pathogenic
NM_000349.3(STAR):c.653C>T (p.Ala218Val) single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000009556]|not provided [RCV001388088] Chr8:38145313 [GRCh38]
Chr8:38002831 [GRCh37]
Chr8:8p11.23
pathogenic
NM_000349.3(STAR):c.545G>A (p.Arg182His) single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000009558]|not provided [RCV000518086] Chr8:38146068 [GRCh38]
Chr8:38003586 [GRCh37]
Chr8:8p11.23
pathogenic|likely pathogenic
NM_000349.3(STAR):c.559G>A (p.Val187Met) single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000009559]|not provided [RCV000811531] Chr8:38146054 [GRCh38]
Chr8:38003572 [GRCh37]
Chr8:8p11.23
pathogenic|likely pathogenic
NM_000349.3(STAR):c.562C>T (p.Arg188Cys) single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000009560]|not provided [RCV000812202] Chr8:38146051 [GRCh38]
Chr8:38003569 [GRCh37]
Chr8:8p11.23
pathogenic
NM_000349.3(STAR):c.577C>T (p.Arg193Ter) single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000029206] Chr8:38146036 [GRCh38]
Chr8:38003554 [GRCh37]
Chr8:8p11.23
pathogenic
NM_000349.3(STAR):c.135del (p.Ser46fs) deletion Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000030462]|not provided [RCV000792849] Chr8:38148684 [GRCh38]
Chr8:38006202 [GRCh37]
Chr8:8p11.23
pathogenic|likely pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000050294] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p12-q11.21(chr8:29719897-48521849)x3 copy number gain See cases [RCV000050995] Chr8:29719897..48521849 [GRCh38]
Chr8:29577413..49434409 [GRCh37]
Chr8:29633332..49596962 [NCBI36]
Chr8:8p12-q11.21
pathogenic
GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3 copy number gain See cases [RCV000050904] Chr8:25832130..48521849 [GRCh38]
Chr8:25689646..49434409 [GRCh37]
Chr8:25745563..49596962 [NCBI36]
Chr8:8p21.2-q11.21
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000050912] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p12-11.21(chr8:34312250-43158901)x1 copy number loss See cases [RCV000050745] Chr8:34312250..43158901 [GRCh38]
Chr8:34169768..43014044 [GRCh37]
Chr8:34289310..43133201 [NCBI36]
Chr8:8p12-11.21
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3 copy number gain See cases [RCV000051110] Chr8:12728904..41928741 [GRCh38]
Chr8:12586413..41786259 [GRCh37]
Chr8:12630784..41905416 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3 copy number gain See cases [RCV000053630] Chr8:12609975..43336172 [GRCh38]
Chr8:12467484..43191315 [GRCh37]
Chr8:12511855..43310472 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43255410)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|See cases [RCV000053631] Chr8:12609975..43255410 [GRCh38]
Chr8:12467484..43110553 [GRCh37]
Chr8:12511855..43229710 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3 copy number gain See cases [RCV000053632] Chr8:12750796..43532444 [GRCh38]
Chr8:12608305..43387587 [GRCh37]
Chr8:12652676..43506744 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3 copy number gain See cases [RCV000053635] Chr8:14940110..47929925 [GRCh38]
Chr8:14797619..48842485 [GRCh37]
Chr8:14841990..49005038 [NCBI36]
Chr8:8p22-q11.21
pathogenic
GRCh38/hg38 8p11.23-11.21(chr8:37899430-42371734)x3 copy number gain See cases [RCV000053648] Chr8:37899430..42371734 [GRCh38]
Chr8:37756948..42229252 [GRCh37]
Chr8:37876106..42348409 [NCBI36]
Chr8:8p11.23-11.21
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776) copy number gain Abnormality of the fetal cardiovascular system [RCV001291977] Chr8:176814..43396776 [GRCh37]
Chr8:8p23.3-11.1
pathogenic
GRCh38/hg38 8p11.23-11.21(chr8:38065927-40341650)x1 copy number loss See cases [RCV000134950] Chr8:38065927..40341650 [GRCh38]
Chr8:37923445..40199169 [GRCh37]
Chr8:38042602..40318326 [NCBI36]
Chr8:8p11.23-11.21
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3 copy number gain See cases [RCV000135786] Chr8:12609975..43673207 [GRCh38]
Chr8:12467484..43528350 [GRCh37]
Chr8:12511855..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3 copy number gain See cases [RCV000135566] Chr8:12383584..43673207 [GRCh38]
Chr8:12241093..43528350 [GRCh37]
Chr8:12285464..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3 copy number gain See cases [RCV000136516] Chr8:12728904..40169194 [GRCh38]
Chr8:12586413..40026713 [GRCh37]
Chr8:12630784..40145870 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p12-11.21(chr8:29362097-40231708)x1 copy number loss See cases [RCV000136878] Chr8:29362097..40231708 [GRCh38]
Chr8:29219614..40089227 [GRCh37]
Chr8:29275533..40208384 [NCBI36]
Chr8:8p12-11.21
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3 copy number gain See cases [RCV000137249] Chr8:12182421..43673207 [GRCh38]
Chr8:12039930..43528350 [GRCh37]
Chr8:12077339..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p11.23-11.22(chr8:38046362-39172253)x1 copy number loss See cases [RCV000139340] Chr8:38046362..39172253 [GRCh38]
Chr8:37903880..39029772 [GRCh37]
Chr8:38023037..39148929 [NCBI36]
Chr8:8p11.23-11.22
pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3 copy number gain See cases [RCV000139891] Chr8:7141697..38695546 [GRCh38]
Chr8:6999219..38553064 [GRCh37]
Chr8:6986629..38672221 [NCBI36]
Chr8:8p23.1-11.22
pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3 copy number gain See cases [RCV000139770] Chr8:12729023..39235934 [GRCh38]
Chr8:12586532..39093453 [GRCh37]
Chr8:12630903..39212610 [NCBI36]
Chr8:8p23.1-11.22
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3 copy number gain See cases [RCV000139796] Chr8:12646123..43686843 [GRCh38]
Chr8:12503632..43541986 [GRCh37]
Chr8:12548003..43661143 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3 copy number gain See cases [RCV000139582] Chr8:36580103..59618998 [GRCh38]
Chr8:36437621..60531557 [GRCh37]
Chr8:36556779..60694111 [NCBI36]
Chr8:8p12-q12.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3 copy number gain See cases [RCV000143508] Chr8:12633490..40685533 [GRCh38]
Chr8:12490999..40543052 [GRCh37]
Chr8:12535370..40662209 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000148249] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000148237] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
NM_000349.3(STAR):c.745-1G>C single nucleotide variant not provided [RCV000516306] Chr8:38144387 [GRCh38]
Chr8:38001905 [GRCh37]
Chr8:8p11.23
likely pathogenic
GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3 copy number gain See cases [RCV000511325] Chr8:12528482..39593802 [GRCh37]
Chr8:8p23.1-11.22
pathogenic
GRCh37/hg19 8p11.23-11.22(chr8:37555526-38600788)x3 copy number gain See cases [RCV000240444] Chr8:37555526..38600788 [GRCh37]
Chr8:8p11.23-11.22
uncertain significance
NM_000349.3(STAR):c.*116T>G single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000270862] Chr8:38144157 [GRCh38]
Chr8:38001675 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_000349.3(STAR):c.504C>T (p.His168=) single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000290676]|not provided [RCV000901945] Chr8:38146109 [GRCh38]
Chr8:38003627 [GRCh37]
Chr8:8p11.23
benign|uncertain significance
NM_000349.3(STAR):c.361C>T (p.Arg121Trp) single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000296652]|not provided [RCV000762506] Chr8:38146393 [GRCh38]
Chr8:38003911 [GRCh37]
Chr8:8p11.23
conflicting interpretations of pathogenicity|uncertain significance
NM_000349.3(STAR):c.120G>A (p.Leu40=) single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000300389]|not provided [RCV000891942] Chr8:38148699 [GRCh38]
Chr8:38006217 [GRCh37]
Chr8:8p11.23
benign|likely benign|uncertain significance
NM_000349.2(STAR):c.-255G>T single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000301699] Chr8:38151073 [GRCh38]
Chr8:38008591 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_000349.3(STAR):c.*981A>G single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000311188] Chr8:38143292 [GRCh38]
Chr8:38000810 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_000349.3(STAR):c.*93C>T single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000326040] Chr8:38144180 [GRCh38]
Chr8:38001698 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_000349.3(STAR):c.178+9T>C single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000335570]|not provided [RCV001438234] Chr8:38148632 [GRCh38]
Chr8:38006150 [GRCh37]
Chr8:8p11.23
likely benign|uncertain significance
NM_000349.3(STAR):c.-70G>T single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000336663] Chr8:38150888 [GRCh38]
Chr8:38008406 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_000349.3(STAR):c.*1543C>A single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000344827] Chr8:38142730 [GRCh38]
Chr8:38000248 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_000349.3(STAR):c.*1122T>A single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000346141] Chr8:38143151 [GRCh38]
Chr8:38000669 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_000349.3(STAR):c.*965_*967dup duplication Congenital adrenal hyperplasia [RCV000351952] Chr8:38143305..38143306 [GRCh38]
Chr8:38000823..38000824 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_000349.3(STAR):c.*913C>T single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000353839] Chr8:38143360 [GRCh38]
Chr8:38000878 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_000349.3(STAR):c.*556A>G single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000264518] Chr8:38143717 [GRCh38]
Chr8:38001235 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_000349.3(STAR):c.*230A>G single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000379432] Chr8:38144043 [GRCh38]
Chr8:38001561 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_000349.3(STAR):c.*88G>C single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000385205] Chr8:38144185 [GRCh38]
Chr8:38001703 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_000349.3(STAR):c.466-5G>A single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000386225]|not provided [RCV000898475]|not specified [RCV000436485] Chr8:38146152 [GRCh38]
Chr8:38003670 [GRCh37]
Chr8:8p11.23
benign|likely benign|uncertain significance
NM_000349.3(STAR):c.*987A>G single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000396171] Chr8:38143286 [GRCh38]
Chr8:38000804 [GRCh37]
Chr8:8p11.23
benign|likely benign
NM_000349.3(STAR):c.153G>A (p.Gln51=) single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000396528]|not provided [RCV000956599] Chr8:38148666 [GRCh38]
Chr8:38006184 [GRCh37]
Chr8:8p11.23
benign|uncertain significance
NM_000349.3(STAR):c.*1524A>G single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000406235] Chr8:38142749 [GRCh38]
Chr8:38000267 [GRCh37]
Chr8:8p11.23
benign
NM_000349.3(STAR):c.*818G>A single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000263470] Chr8:38143455 [GRCh38]
Chr8:38000973 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_000349.3(STAR):c.*1384del deletion Congenital adrenal hyperplasia [RCV000291009] Chr8:38142889 [GRCh38]
Chr8:38000407 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_000349.3(STAR):c.484A>C (p.Lys162Gln) single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000350366] Chr8:38146129 [GRCh38]
Chr8:38003647 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_000349.3(STAR):c.*348C>T single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000324387] Chr8:38143925 [GRCh38]
Chr8:38001443 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_000349.3(STAR):c.*948del deletion Congenital adrenal hyperplasia [RCV000298963] Chr8:38143325 [GRCh38]
Chr8:38000843 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_000349.3(STAR):c.*817C>T single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000299920] Chr8:38143456 [GRCh38]
Chr8:38000974 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_000349.3(STAR):c.*796A>G single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000359307] Chr8:38143477 [GRCh38]
Chr8:38000995 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_000349.3(STAR):c.*967del deletion Congenital adrenal hyperplasia [RCV000396156] Chr8:38143306 [GRCh38]
Chr8:38000824 [GRCh37]
Chr8:8p11.23
benign
NM_000349.2(STAR):c.-249C>A single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000396536] Chr8:38151067 [GRCh38]
Chr8:38008585 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_000349.3(STAR):c.629_630del (p.Pro210fs) deletion Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000410363]|not provided [RCV001218367] Chr8:38145983..38145984 [GRCh38]
Chr8:38003501..38003502 [GRCh37]
Chr8:8p11.23
pathogenic|likely pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3 copy number gain See cases [RCV000446588] Chr8:24772064..24813176 [GRCh37]
Chr8:8p21.2-q12.1
uncertain significance
GRCh37/hg19 8p11.23-11.22(chr8:37566388-38802788)x1 copy number loss See cases [RCV000447568] Chr8:37566388..38802788 [GRCh37]
Chr8:8p11.23-11.22
likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:158048-43786723)x3 copy number gain See cases [RCV000447909] Chr8:158048..43786723 [GRCh37]
Chr8:8p23.3-11.1
pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3 copy number gain See cases [RCV000447913] Chr8:12580132..43388233 [GRCh37]
Chr8:8p23.1-11.1
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3 copy number gain See cases [RCV000511028] Chr8:11935023..43824035 [GRCh37]
Chr8:8p23.1-11.1
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_000349.3(STAR):c.465+20A>G single nucleotide variant not specified [RCV000518572] Chr8:38146269 [GRCh38]
Chr8:38003787 [GRCh37]
Chr8:8p11.23
benign
NM_000349.3(STAR):c.779T>C (p.Leu260Pro) single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000668949]|not provided [RCV001390621] Chr8:38144352 [GRCh38]
Chr8:38001870 [GRCh37]
Chr8:8p11.23
pathogenic|likely pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
NM_000349.3(STAR):c.201_202del (p.Tyr68fs) microsatellite Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000009561]|not provided [RCV000713525] Chr8:38148304..38148305 [GRCh38]
Chr8:38005822..38005823 [GRCh37]
Chr8:8p11.23
pathogenic
GRCh37/hg19 8p11.23(chr8:37618754-38194831)x3 copy number gain not provided [RCV000658484] Chr8:37618754..38194831 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_000349.3(STAR):c.179-2A>G single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000671263] Chr8:38148329 [GRCh38]
Chr8:38005847 [GRCh37]
Chr8:8p11.23
likely pathogenic
NM_000349.3(STAR):c.229C>T (p.Gln77Ter) single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000669222]|not provided [RCV001388089] Chr8:38148277 [GRCh38]
Chr8:38005795 [GRCh37]
Chr8:8p11.23
pathogenic|likely pathogenic
NM_000349.3(STAR):c.544C>T (p.Arg182Cys) single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000665326]|not provided [RCV001211857] Chr8:38146069 [GRCh38]
Chr8:38003587 [GRCh37]
Chr8:8p11.23
pathogenic|likely pathogenic
NM_000349.3(STAR):c.466-11T>A single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000673944] Chr8:38146158 [GRCh38]
Chr8:38003676 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_000349.3(STAR):c.64+2T>C single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000674046] Chr8:38150753 [GRCh38]
Chr8:38008271 [GRCh37]
Chr8:8p11.23
likely pathogenic
NM_000349.3(STAR):c.298_299del (p.Gln101fs) microsatellite Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000666759]|not provided [RCV001232774] Chr8:38148207..38148208 [GRCh38]
Chr8:38005725..38005726 [GRCh37]
Chr8:8p11.23
pathogenic|likely pathogenic
NM_000349.3(STAR):c.714del (p.Lys238fs) deletion Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000674399]|not provided [RCV001039943] Chr8:38145252 [GRCh38]
Chr8:38002770 [GRCh37]
Chr8:8p11.23
pathogenic|likely pathogenic
NM_000349.3(STAR):c.651-1G>C single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000674443] Chr8:38145316 [GRCh38]
Chr8:38002834 [GRCh37]
Chr8:8p11.23
likely pathogenic
NM_000349.3(STAR):c.801dup (p.Ala268fs) duplication Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000666205] Chr8:38144329..38144330 [GRCh38]
Chr8:38001847..38001848 [GRCh37]
Chr8:8p11.23
likely pathogenic
NM_000349.3(STAR):c.677del (p.Val226fs) deletion Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000670436] Chr8:38145289 [GRCh38]
Chr8:38002807 [GRCh37]
Chr8:8p11.23
likely pathogenic
NM_000349.3(STAR):c.289AAG[1] (p.Lys98del) microsatellite Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000665301]|not provided [RCV000893605] Chr8:38148212..38148214 [GRCh38]
Chr8:38005730..38005732 [GRCh37]
Chr8:8p11.23
likely benign|uncertain significance
NM_000349.3(STAR):c.716_732del (p.Leu239fs) deletion Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000670412] Chr8:38145234..38145250 [GRCh38]
Chr8:38002752..38002768 [GRCh37]
Chr8:8p11.23
likely pathogenic
NM_000349.3(STAR):c.178+1G>C single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000673860] Chr8:38148640 [GRCh38]
Chr8:38006158 [GRCh37]
Chr8:8p11.23
likely pathogenic
NM_000349.3(STAR):c.814C>T (p.Arg272Cys) single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000665602] Chr8:38144317 [GRCh38]
Chr8:38001835 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_000349.3(STAR):c.695del (p.Gly232fs) deletion Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000674438]|not provided [RCV001238802] Chr8:38145271 [GRCh38]
Chr8:38002789 [GRCh37]
Chr8:8p11.23
pathogenic|likely pathogenic
NM_000349.3(STAR):c.64+1G>T single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000665946]|not provided [RCV000804772] Chr8:38150754 [GRCh38]
Chr8:38008272 [GRCh37]
Chr8:8p11.23
pathogenic
NM_000349.3(STAR):c.574C>T (p.Arg192Cys) single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000666231] Chr8:38146039 [GRCh38]
Chr8:38003557 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_000349.3(STAR):c.563G>A (p.Arg188His) single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000668498] Chr8:38146050 [GRCh38]
Chr8:38003568 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_000349.3(STAR):c.811del (p.Leu271fs) deletion Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000672388]|not provided [RCV001057126] Chr8:38144320 [GRCh38]
Chr8:38001838 [GRCh37]
Chr8:8p11.23
pathogenic|likely pathogenic
NM_000349.3(STAR):c.745-1_757del deletion Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000674882] Chr8:38144374..38144387 [GRCh38]
Chr8:38001892..38001905 [GRCh37]
Chr8:8p11.23
likely pathogenic
NM_000349.3(STAR):c.149_157del (p.Asn50_Val52del) deletion Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000666610] Chr8:38148662..38148670 [GRCh38]
Chr8:38006180..38006188 [GRCh37]
Chr8:8p11.23
uncertain significance
GRCh37/hg19 8p12-11.21(chr8:31352498-41481295)x3 copy number gain not provided [RCV000683035] Chr8:31352498..41481295 [GRCh37]
Chr8:8p12-11.21
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_000349.3(STAR):c.792G>A (p.Gln264=) single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV001273606]|not provided [RCV000943849] Chr8:38144339 [GRCh38]
Chr8:38001857 [GRCh37]
Chr8:8p11.23
likely benign|uncertain significance
NM_000349.3(STAR):c.481G>A (p.Gly161Arg) single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV001160266]|not provided [RCV000904441] Chr8:38146132 [GRCh38]
Chr8:38003650 [GRCh37]
Chr8:8p11.23
benign|uncertain significance
NM_000349.3(STAR):c.433G>A (p.Gly145Arg) single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV001273607]|not provided [RCV000880642] Chr8:38146321 [GRCh38]
Chr8:38003839 [GRCh37]
Chr8:8p11.23
benign|uncertain significance
NM_000349.3(STAR):c.125dup (p.Thr44fs) duplication Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000779556]|not provided [RCV000792850] Chr8:38148693..38148694 [GRCh38]
Chr8:38006211..38006212 [GRCh37]
Chr8:8p11.23
pathogenic
NM_000349.3(STAR):c.108C>T (p.Asn36=) single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV001163950]|not provided [RCV000942361] Chr8:38148711 [GRCh38]
Chr8:38006229 [GRCh37]
Chr8:8p11.23
benign|uncertain significance
NM_000349.3(STAR):c.189G>A (p.Leu63=) single nucleotide variant not provided [RCV000964642] Chr8:38148317 [GRCh38]
Chr8:38005835 [GRCh37]
Chr8:8p11.23
benign
NM_000349.3(STAR):c.306+10G>A single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV001163636]|not provided [RCV000905242] Chr8:38148190 [GRCh38]
Chr8:38005708 [GRCh37]
Chr8:8p11.23
likely benign|uncertain significance
NM_000349.3(STAR):c.661G>A (p.Gly221Ser) single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV001275354]|not provided [RCV000819131] Chr8:38145305 [GRCh38]
Chr8:38002823 [GRCh37]
Chr8:8p11.23
likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p11.23(chr8:38005738-38077116)x1 copy number loss not provided [RCV000845824] Chr8:38005738..38077116 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_000349.3(STAR):c.*699C>G single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV001163847] Chr8:38143574 [GRCh38]
Chr8:38001092 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_000349.3(STAR):c.157C>G (p.Arg53Gly) single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV001163948] Chr8:38148662 [GRCh38]
Chr8:38006180 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_000349.3(STAR):c.178+7G>A single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV001163946]|not provided [RCV001407453] Chr8:38148634 [GRCh38]
Chr8:38006152 [GRCh37]
Chr8:8p11.23
likely benign|uncertain significance
NM_000349.3(STAR):c.*930C>T single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV001163549] Chr8:38143343 [GRCh38]
Chr8:38000861 [GRCh37]
Chr8:8p11.23
uncertain significance
GRCh37/hg19 8p12-11.1(chr8:36094421-43822214)x3 copy number gain not provided [RCV000848822] Chr8:36094421..43822214 [GRCh37]
Chr8:8p12-11.1
uncertain significance
NM_000349.3(STAR):c.*1513C>G single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV001160165] Chr8:38142760 [GRCh38]
Chr8:38000278 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_000349.3(STAR):c.650+13G>T single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV001160265] Chr8:38145950 [GRCh38]
Chr8:38003468 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_000349.3(STAR):c.*880C>T single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV001163845] Chr8:38143393 [GRCh38]
Chr8:38000911 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_000349.3(STAR):c.*768G>A single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV001163846] Chr8:38143505 [GRCh38]
Chr8:38001023 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_000349.3(STAR):c.*698C>A single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV001163848] Chr8:38143575 [GRCh38]
Chr8:38001093 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_000349.3(STAR):c.687G>A (p.Pro229=) single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV001160264]|not provided [RCV000959024] Chr8:38145279 [GRCh38]
Chr8:38002797 [GRCh37]
Chr8:8p11.23
benign|uncertain significance
NM_000349.3(STAR):c.324G>A (p.Val108=) single nucleotide variant not provided [RCV000982487] Chr8:38146430 [GRCh38]
Chr8:38003948 [GRCh37]
Chr8:8p11.23
likely benign
NM_000349.3(STAR):c.*456C>T single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV001158929] Chr8:38143817 [GRCh38]
Chr8:38001335 [GRCh37]
Chr8:8p11.23
likely benign
NC_000008.11:g.38150970C>T single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV001159019] Chr8:38150970 [GRCh38]
Chr8:38008488 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_000349.3(STAR):c.411C>T (p.Leu137=) single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV001163634]|not provided [RCV001431577] Chr8:38146343 [GRCh38]
Chr8:38003861 [GRCh37]
Chr8:8p11.23
likely benign|uncertain significance
NM_000349.3(STAR):c.42C>A (p.Tyr14Ter) single nucleotide variant not provided [RCV001213661] Chr8:38150777 [GRCh38]
Chr8:38008295 [GRCh37]
Chr8:8p11.23
pathogenic
NM_000349.3(STAR):c.158G>T (p.Arg53Leu) single nucleotide variant not provided [RCV000912029] Chr8:38148661 [GRCh38]
Chr8:38006179 [GRCh37]
Chr8:8p11.23
likely benign
NM_000349.3(STAR):c.141G>A (p.Thr47=) single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV001163949]|not provided [RCV000890105] Chr8:38148678 [GRCh38]
Chr8:38006196 [GRCh37]
Chr8:8p11.23
benign|uncertain significance
NM_000349.3(STAR):c.731G>A (p.Ser244Asn) single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV001160263] Chr8:38145235 [GRCh38]
Chr8:38002753 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_000349.3(STAR):c.*1473G>A single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV001163547] Chr8:38142800 [GRCh38]
Chr8:38000318 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_000349.3(STAR):c.*550A>C single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV001158928] Chr8:38143723 [GRCh38]
Chr8:38001241 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_000349.3(STAR):c.*395G>A single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV001158930] Chr8:38143878 [GRCh38]
Chr8:38001396 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_000349.3(STAR):c.*187T>C single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV001158931] Chr8:38144086 [GRCh38]
Chr8:38001604 [GRCh37]
Chr8:8p11.23
uncertain significance
NC_000008.11:g.38150990G>A single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV001159020]|not provided [RCV001519441] Chr8:38150990 [GRCh38]
Chr8:38008508 [GRCh37]
Chr8:8p11.23
benign|likely benign
NM_000349.3(STAR):c.*897C>T single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV001163550] Chr8:38143376 [GRCh38]
Chr8:38000894 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_000349.3(STAR):c.312T>C (p.Asn104=) single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV001163635]|not provided [RCV001455195] Chr8:38146442 [GRCh38]
Chr8:38003960 [GRCh37]
Chr8:8p11.23
likely benign|uncertain significance
NM_000349.3(STAR):c.179-14G>A single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV001163637]|not provided [RCV001354114] Chr8:38148341 [GRCh38]
Chr8:38005859 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_000349.3(STAR):c.-16C>T single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV001163951] Chr8:38150834 [GRCh38]
Chr8:38008352 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_000349.3(STAR):c.*1472C>T single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV001163548] Chr8:38142801 [GRCh38]
Chr8:38000319 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_000349.3(STAR):c.*688C>T single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV001163849] Chr8:38143585 [GRCh38]
Chr8:38001103 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_000349.3(STAR):c.158G>C (p.Arg53Pro) single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV001163947] Chr8:38148661 [GRCh38]
Chr8:38006179 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_000349.3(STAR):c.*1557A>G single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV001160164] Chr8:38142716 [GRCh38]
Chr8:38000234 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_000349.3(STAR):c.824T>C (p.Leu275Pro) single nucleotide variant not provided [RCV001230692] Chr8:38144307 [GRCh38]
Chr8:38001825 [GRCh37]
Chr8:8p11.23
pathogenic
NM_000349.3(STAR):c.290del (p.Lys97fs) deletion not provided [RCV001067195] Chr8:38148216 [GRCh38]
Chr8:38005734 [GRCh37]
Chr8:8p11.23
pathogenic
NM_000349.3(STAR):c.33del (p.Ser12fs) deletion not provided [RCV001268293] Chr8:38150786 [GRCh38]
Chr8:38008304 [GRCh37]
Chr8:8p11.23
pathogenic
NM_000349.3(STAR):c.8_9del (p.Leu3fs) deletion not provided [RCV001268294] Chr8:38150810..38150811 [GRCh38]
Chr8:38008328..38008329 [GRCh37]
Chr8:8p11.23
pathogenic
NM_000349.3(STAR):c.693T>G (p.Ala231=) single nucleotide variant not provided [RCV001392331] Chr8:38145273 [GRCh38]
Chr8:38002791 [GRCh37]
Chr8:8p11.23
likely benign
NM_000349.3(STAR):c.753G>A (p.Leu251=) single nucleotide variant not provided [RCV001422723] Chr8:38144378 [GRCh38]
Chr8:38001896 [GRCh37]
Chr8:8p11.23
likely benign
NM_000349.3(STAR):c.64+1G>A single nucleotide variant not provided [RCV001383037] Chr8:38150754 [GRCh38]
Chr8:38008272 [GRCh37]
Chr8:8p11.23
pathogenic
NM_000349.3(STAR):c.161G>T (p.Arg54Leu) single nucleotide variant Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV001279456] Chr8:38148658 [GRCh38]
Chr8:38006176 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_000349.3(STAR):c.201C>T (p.Leu67=) single nucleotide variant not provided [RCV001421387] Chr8:38148305 [GRCh38]
Chr8:38005823 [GRCh37]
Chr8:8p11.23
likely benign
NM_000349.3(STAR):c.744+8del deletion not provided [RCV001440863] Chr8:38145214 [GRCh38]
Chr8:38002732 [GRCh37]
Chr8:8p11.23
likely benign
NM_000349.3(STAR):c.708G>A (p.Lys236=) single nucleotide variant not provided [RCV001470005] Chr8:38145258 [GRCh38]
Chr8:38002776 [GRCh37]
Chr8:8p11.23
likely benign
NM_000349.3(STAR):c.624C>T (p.Asn208=) single nucleotide variant not provided [RCV001416926] Chr8:38145989 [GRCh38]
Chr8:38003507 [GRCh37]
Chr8:8p11.23
likely benign
NM_000349.3(STAR):c.258C>T (p.Ala86=) single nucleotide variant not provided [RCV001506418] Chr8:38148248 [GRCh38]
Chr8:38005766 [GRCh37]
Chr8:8p11.23
likely benign
NM_000349.3(STAR):c.259T>C (p.Leu87=) single nucleotide variant not provided [RCV001468966] Chr8:38148247 [GRCh38]
Chr8:38005765 [GRCh37]
Chr8:8p11.23
likely benign
NM_000349.3(STAR):c.650+7C>T single nucleotide variant not provided [RCV001485178] Chr8:38145956 [GRCh38]
Chr8:38003474 [GRCh37]
Chr8:8p11.23
likely benign
NM_000349.3(STAR):c.819G>A (p.Lys273=) single nucleotide variant not provided [RCV001436955] Chr8:38144312 [GRCh38]
Chr8:38001830 [GRCh37]
Chr8:8p11.23
likely benign
NM_000349.3(STAR):c.777C>A (p.Val259=) single nucleotide variant not provided [RCV001497374] Chr8:38144354 [GRCh38]
Chr8:38001872 [GRCh37]
Chr8:8p11.23
likely benign
NM_000349.3(STAR):c.466-6T>C single nucleotide variant not provided [RCV001477831] Chr8:38146153 [GRCh38]
Chr8:38003671 [GRCh37]
Chr8:8p11.23
likely benign
NM_000349.3(STAR):c.651-7T>C single nucleotide variant not provided [RCV001466919] Chr8:38145322 [GRCh38]
Chr8:38002840 [GRCh37]
Chr8:8p11.23
likely benign
NM_000349.3(STAR):c.650+8G>C single nucleotide variant not provided [RCV001426740] Chr8:38145955 [GRCh38]
Chr8:38003473 [GRCh37]
Chr8:8p11.23
likely benign
NM_000349.3(STAR):c.516C>T (p.Ala172=) single nucleotide variant not provided [RCV001484756] Chr8:38146097 [GRCh38]
Chr8:38003615 [GRCh37]
Chr8:8p11.23
likely benign
NM_000349.3(STAR):c.372C>G (p.Val124=) single nucleotide variant not provided [RCV001438705] Chr8:38146382 [GRCh38]
Chr8:38003900 [GRCh37]
Chr8:8p11.23
likely benign
NM_000349.3(STAR):c.688T>C (p.Leu230=) single nucleotide variant not provided [RCV001439530] Chr8:38145278 [GRCh38]
Chr8:38002796 [GRCh37]
Chr8:8p11.23
likely benign
NM_000349.3(STAR):c.222C>T (p.Ala74=) single nucleotide variant not provided [RCV001448898] Chr8:38148284 [GRCh38]
Chr8:38005802 [GRCh37]
Chr8:8p11.23
likely benign
NM_000349.3(STAR):c.225T>C (p.Tyr75=) single nucleotide variant not provided [RCV001435748] Chr8:38148281 [GRCh38]
Chr8:38005799 [GRCh37]
Chr8:8p11.23
likely benign
NM_000349.3(STAR):c.375G>A (p.Val125=) single nucleotide variant not provided [RCV001397773] Chr8:38146379 [GRCh38]
Chr8:38003897 [GRCh37]
Chr8:8p11.23
likely benign
NM_000349.3(STAR):c.489T>C (p.Asp163=) single nucleotide variant not provided [RCV001418093] Chr8:38146124 [GRCh38]
Chr8:38003642 [GRCh37]
Chr8:8p11.23
likely benign
NM_000349.3(STAR):c.102G>A (p.Glu34=) single nucleotide variant not provided [RCV001410539] Chr8:38148717 [GRCh38]
Chr8:38006235 [GRCh37]
Chr8:8p11.23
likely benign
NM_000349.3(STAR):c.650+7C>A single nucleotide variant not provided [RCV001399849] Chr8:38145956 [GRCh38]
Chr8:38003474 [GRCh37]
Chr8:8p11.23
likely benign
NM_000349.3(STAR):c.719del (p.Thr240fs) deletion not provided [RCV001390622] Chr8:38145247 [GRCh38]
Chr8:38002765 [GRCh37]
Chr8:8p11.23
pathogenic
NM_000349.3(STAR):c.144G>A (p.Trp48Ter) single nucleotide variant not provided [RCV001387587] Chr8:38148675 [GRCh38]
Chr8:38006193 [GRCh37]
Chr8:8p11.23
pathogenic
NM_000349.3(STAR):c.64+9T>C single nucleotide variant not provided [RCV001405683] Chr8:38150746 [GRCh38]
Chr8:38008264 [GRCh37]
Chr8:8p11.23
likely benign
NM_000349.3(STAR):c.402T>C (p.Tyr134=) single nucleotide variant not provided [RCV001436541] Chr8:38146352 [GRCh38]
Chr8:38003870 [GRCh37]
Chr8:8p11.23
likely benign
NM_000349.3(STAR):c.219G>A (p.Leu73=) single nucleotide variant not provided [RCV001398493] Chr8:38148287 [GRCh38]
Chr8:38005805 [GRCh37]
Chr8:8p11.23
likely benign
NM_000349.3(STAR):c.759G>A (p.Lys253=) single nucleotide variant not provided [RCV001408403] Chr8:38144372 [GRCh38]
Chr8:38001890 [GRCh37]
Chr8:8p11.23
likely benign
NM_000349.3(STAR):c.650+8G>A single nucleotide variant not provided [RCV001408405] Chr8:38145955 [GRCh38]
Chr8:38003473 [GRCh37]
Chr8:8p11.23
likely benign
NM_000349.3(STAR):c.720G>T (p.Thr240=) single nucleotide variant not provided [RCV001393816] Chr8:38145246 [GRCh38]
Chr8:38002764 [GRCh37]
Chr8:8p11.23
likely benign
NM_000349.3(STAR):c.307-1G>A single nucleotide variant not provided [RCV001377697] Chr8:38146448 [GRCh38]
Chr8:38003966 [GRCh37]
Chr8:8p11.23
likely pathogenic
NM_000349.3(STAR):c.735C>T (p.Ile245=) single nucleotide variant not provided [RCV001445924] Chr8:38145231 [GRCh38]
Chr8:38002749 [GRCh37]
Chr8:8p11.23
likely benign
NM_000349.3(STAR):c.738C>T (p.Asp246=) single nucleotide variant not provided [RCV001472902] Chr8:38145228 [GRCh38]
Chr8:38002746 [GRCh37]
Chr8:8p11.23
likely benign
NM_000349.3(STAR):c.159G>T (p.Arg53=) single nucleotide variant not provided [RCV001499450] Chr8:38148660 [GRCh38]
Chr8:38006178 [GRCh37]
Chr8:8p11.23
likely benign
NM_000349.3(STAR):c.141G>T (p.Thr47=) single nucleotide variant not provided [RCV001490836] Chr8:38148678 [GRCh38]
Chr8:38006196 [GRCh37]
Chr8:8p11.23
likely benign
NM_000349.3(STAR):c.720G>C (p.Thr240=) single nucleotide variant not provided [RCV001480288] Chr8:38145246 [GRCh38]
Chr8:38002764 [GRCh37]
Chr8:8p11.23
likely benign
NM_000349.3(STAR):c.12G>A (p.Ala4=) single nucleotide variant not provided [RCV001467204] Chr8:38150807 [GRCh38]
Chr8:38008325 [GRCh37]
Chr8:8p11.23
likely benign
NM_000349.3(STAR):c.621G>A (p.Gly207=) single nucleotide variant not provided [RCV001456551] Chr8:38145992 [GRCh38]
Chr8:38003510 [GRCh37]
Chr8:8p11.23
likely benign
NM_000349.3(STAR):c.501T>G (p.Thr167=) single nucleotide variant not provided [RCV001495610] Chr8:38146112 [GRCh38]
Chr8:38003630 [GRCh37]
Chr8:8p11.23
likely benign
NM_000349.3(STAR):c.189= (p.Leu63=) variation not provided [RCV001518418] Chr8:38148317 [GRCh38]
Chr8:38005835 [GRCh37]
Chr8:8p11.23
benign
NM_000349.3(STAR):c.315G>C (p.Gly105=) single nucleotide variant not provided [RCV001405724] Chr8:38146439 [GRCh38]
Chr8:38003957 [GRCh37]
Chr8:8p11.23
likely benign
NM_000349.3(STAR):c.318C>T (p.Asp106=) single nucleotide variant not provided [RCV001495429] Chr8:38146436 [GRCh38]
Chr8:38003954 [GRCh37]
Chr8:8p11.23
likely benign
NM_000349.3(STAR):c.795G>A (p.Val265=) single nucleotide variant not provided [RCV001476093] Chr8:38144336 [GRCh38]
Chr8:38001854 [GRCh37]
Chr8:8p11.23
likely benign
NM_000349.3(STAR):c.660C>T (p.His220=) single nucleotide variant not provided [RCV001457376] Chr8:38145306 [GRCh38]
Chr8:38002824 [GRCh37]
Chr8:8p11.23
likely benign
NM_000349.3(STAR):c.784del (p.Gln262fs) deletion not provided [RCV001383447] Chr8:38144347 [GRCh38]
Chr8:38001865 [GRCh37]
Chr8:8p11.23
pathogenic
NM_000349.3(STAR):c.76C>T (p.Gln26Ter) single nucleotide variant not provided [RCV001380056] Chr8:38148743 [GRCh38]
Chr8:38006261 [GRCh37]
Chr8:8p11.23
pathogenic
NM_000349.3(STAR):c.435G>C (p.Gly145=) single nucleotide variant not provided [RCV001423357] Chr8:38146319 [GRCh38]
Chr8:38003837 [GRCh37]
Chr8:8p11.23
likely benign
NM_000349.3(STAR):c.429A>G (p.Ala143=) single nucleotide variant not provided [RCV001406707] Chr8:38146325 [GRCh38]
Chr8:38003843 [GRCh37]
Chr8:8p11.23
likely benign
NM_000349.3(STAR):c.480C>T (p.Ile160=) single nucleotide variant not provided [RCV001483511] Chr8:38146133 [GRCh38]
Chr8:38003651 [GRCh37]
Chr8:8p11.23
likely benign
NM_000349.3(STAR):c.744+7G>A single nucleotide variant not provided [RCV001461463] Chr8:38145215 [GRCh38]
Chr8:38002733 [GRCh37]
Chr8:8p11.23
likely benign
NM_000349.3(STAR):c.810C>T (p.His270=) single nucleotide variant not provided [RCV001496863] Chr8:38144321 [GRCh38]
Chr8:38001839 [GRCh37]
Chr8:8p11.23
likely benign
NM_000349.3(STAR):c.54C>T (p.Arg18=) single nucleotide variant not provided [RCV001426373] Chr8:38150765 [GRCh38]
Chr8:38008283 [GRCh37]
Chr8:8p11.23
likely benign
NM_000349.3(STAR):c.306+9C>T single nucleotide variant not provided [RCV001497181] Chr8:38148191 [GRCh38]
Chr8:38005709 [GRCh37]
Chr8:8p11.23
likely benign
NM_000349.3(STAR):c.450T>C (p.Asn150=) single nucleotide variant not provided [RCV001455125] Chr8:38146304 [GRCh38]
Chr8:38003822 [GRCh37]
Chr8:8p11.23
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11359 AgrOrtholog
COSMIC STAR COSMIC
Ensembl Genes ENSG00000147465 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000276449 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000429009 UniProtKB/TrEMBL
  ENSP00000430030 UniProtKB/TrEMBL
Ensembl Transcript ENST00000276449 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000521236 UniProtKB/TrEMBL
  ENST00000522050 UniProtKB/TrEMBL
Gene3D-CATH 3.30.530.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000147465 GTEx
HGNC ID HGNC:11359 ENTREZGENE
Human Proteome Map STAR Human Proteome Map
InterPro StAR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  StAR-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  START-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  START_lipid-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6770 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 6770 ENTREZGENE
OMIM 201710 OMIM
  600617 OMIM
PANTHER PTHR46489 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam START UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36181 PharmGKB
PRINTS STARPROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL