CD274 (CD274 molecule) - Rat Genome Database

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Gene: CD274 (CD274 molecule) Homo sapiens
Analyze
Symbol: CD274
Name: CD274 molecule
RGD ID: 1605684
HGNC Page HGNC
Description: Involved in several processes, including positive regulation of activated CD8-positive, alpha-beta T cell apoptotic process; regulation of T cell activation; and regulation of cytokine production. Localizes to several cellular components, including endosome membrane; extracellular exosome; and nucleoplasm. Biomarker of Human papillomavirus infectious disease; cervix uteri carcinoma in situ; gastrointestinal system cancer (multiple); pulmonary tuberculosis; and toxic shock syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: B7 homolog 1; B7-H; B7H1; CD274 antigen; hPD-L1; MGC142294; MGC142296; PD-L1; PDCD1 ligand 1; PDCD1L1; PDCD1LG1; PDL1; programmed cell death 1 ligand 1; programmed death ligand 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl95,450,503 - 5,470,566 (+)EnsemblGRCh38hg38GRCh38
GRCh3895,450,542 - 5,470,554 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3795,450,542 - 5,470,554 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3695,440,559 - 5,458,477 (+)NCBINCBI36hg18NCBI36
Celera95,376,139 - 5,396,204 (+)NCBI
Cytogenetic Map9p24.1NCBI
HuRef95,406,210 - 5,426,274 (+)NCBIHuRef
CHM1_195,450,664 - 5,470,759 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
acute myocarditis  (ISO)
adult T-cell leukemia  (IEP)
allergic disease  (EXP)
alveolar echinococcosis  (ISO)
anti-basement membrane glomerulonephritis  (ISO)
asthma  (ISO)
autoimmune hepatitis  (ISO)
cervix uteri carcinoma in situ  (IEP)
Chlamydia pneumonia  (ISO)
Chronic Hepatitis B  (IEP,ISO)
Chronic Hepatitis C  (IEP)
colon cancer  (ISO)
Corneal Graft Rejection  (ISO)
Coxsackievirus Infections  (ISO)
cryptococcal meningitis  (IEP)
cutaneous leishmaniasis  (ISO)
Disease Progression  (EXP)
Fungemia  (ISO)
Hepatic Echinococcosis  (ISO)
hepatitis C  (IEP)
hepatocellular carcinoma  (EXP,IEP)
herpes simplex  (ISO)
herpes simplex virus keratitis  (ISO)
histoplasmosis  (ISO)
human immunodeficiency virus infectious disease  (IEP)
influenza  (IEP)
Lung Neoplasms  (EXP)
lymphocytic choriomeningitis  (ISO)
lymphoma  (EXP)
Mammary Neoplasms, Experimental  (ISO)
nasal type extranodal NK/T-cell lymphoma  (IEP)
Neoplasm Metastasis  (IEP)
Neoplasms, Radiation-Induced  (EXP)
ovarian cancer  (ISO)
papillomavirus infectious disease  (IEP)
periodontitis  (ISO)
pre-eclampsia  (ISO)
primary progressive multiple sclerosis  (ISO)
pulmonary tuberculosis  (IEP)
rabies  (ISO)
Recurrence  (EXP)
Recurrent Respiratory Papillomatosis  (IEP)
respiratory syncytial virus infectious disease  (ISO)
Retroviridae Infections  (ISO)
Sepsis  (IEP)
Spinal Cord Injuries  (ISO)
stomach cancer  (IEP)
substance-related disorder  (EXP)
Thymus Neoplasms  (EXP)
toxic shock syndrome  (IEP)
Transplant Rejection  (ISO)
tuberculosis  (IEP)
Viral Bronchiolitis  (ISO)
viral encephalitis  (ISO)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-demecolcine  (EXP)
1,2-dimethylhydrazine  (ISO)
1,4-phenylenediamine  (EXP)
1-chloro-2,4-dinitrobenzene  (EXP)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (ISO)
17beta-estradiol 3-benzoate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-hydroxypropanoic acid  (EXP)
3-phenylprop-2-enal  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
5-fluorouracil  (EXP)
acetamide  (ISO)
acetylsalicylic acid  (EXP)
aflatoxin B1  (EXP)
aripiprazole  (EXP)
benzalkonium chloride  (ISO)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
bromobenzene  (ISO)
buta-1,3-diene  (ISO)
butanal  (EXP)
cadmium atom  (EXP)
calcitriol  (EXP)
cannabidiol  (ISO)
carbon nanotube  (ISO)
carboplatin  (EXP)
chloroquine  (EXP)
chlorpromazine  (EXP)
cisplatin  (EXP)
decabromodiphenyl ether  (ISO)
dexamethasone  (ISO)
dextran sulfate  (ISO)
dioxygen  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
estriol  (ISO)
ethyl methanesulfonate  (EXP)
etoposide  (EXP)
eugenol  (EXP)
ferric oxide  (ISO)
folic acid  (EXP)
formaldehyde  (EXP)
furan  (ISO)
imiquimod  (ISO)
isoeugenol  (EXP)
kojic acid  (EXP)
leflunomide  (EXP)
lipopolysaccharide  (EXP,ISO)
LY294002  (EXP)
methotrexate  (EXP)
methyl methanesulfonate  (EXP)
nickel atom  (EXP)
nickel sulfate  (EXP)
oxaliplatin  (EXP)
ozone  (EXP)
paclitaxel  (EXP)
paracetamol  (EXP,ISO)
pentachlorophenol  (ISO)
pentanal  (EXP)
phenformin  (ISO)
phenobarbital  (ISO)
platycodin D  (EXP)
protein kinase inhibitor  (EXP)
rac-lactic acid  (EXP)
resveratrol  (EXP)
rotenone  (ISO)
SB 431542  (EXP)
silicon dioxide  (EXP,ISO)
sodium arsenite  (EXP)
succimer  (ISO)
sunitinib  (EXP)
testosterone  (EXP,ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
thyroxine  (EXP)
titanium dioxide  (ISO)
trans-isoeugenol  (EXP)
trichostatin A  (EXP)
urethane  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)
vincristine  (EXP)
zearalenone  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
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Additional References at PubMed
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PMID:12719480   PMID:12800259   PMID:12893276   PMID:12923066   PMID:14617032   PMID:14686489   PMID:14702039   PMID:15131796   PMID:15297412   PMID:15342209   PMID:15489334   PMID:15780196  
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PMID:16916652   PMID:17076679   PMID:17136123   PMID:17186290   PMID:17203303   PMID:17311651   PMID:17360651   PMID:17363736   PMID:17366897   PMID:17415709   PMID:17475895   PMID:17489864  
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PMID:18301333   PMID:18322304   PMID:18347814   PMID:18378285   PMID:18476597   PMID:18549878   PMID:18550794   PMID:18566376   PMID:18572307   PMID:18578991   PMID:18585785   PMID:18608206  
PMID:18650129   PMID:18652314   PMID:18676751   PMID:18684942   PMID:18705009   PMID:18756622   PMID:18756934   PMID:18760278   PMID:18830259   PMID:18850006   PMID:18924219   PMID:18928614  
PMID:18941206   PMID:18981087   PMID:19010538   PMID:19056397   PMID:19081139   PMID:19088198   PMID:19116915   PMID:19224168   PMID:19229109   PMID:19264916   PMID:19297851   PMID:19442732  
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PMID:25799277   PMID:25801435   PMID:25810125   PMID:25851293   PMID:25862146   PMID:25867264   PMID:25871477   PMID:25891731   PMID:25897014   PMID:25926674   PMID:25936667   PMID:25963805  
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PMID:26133691   PMID:26141060   PMID:26159545   PMID:26171934   PMID:26176707   PMID:26186194   PMID:26209749   PMID:26239088   PMID:26245467   PMID:26261529   PMID:26284927   PMID:26286967  
PMID:26299988   PMID:26313362   PMID:26317305   PMID:26317899   PMID:26317902   PMID:26320063   PMID:26321145   PMID:26323609   PMID:26329973   PMID:26337747   PMID:26346135   PMID:26349666  
PMID:26352784   PMID:26364145   PMID:26367730   PMID:26373277   PMID:26373575   PMID:26378017   PMID:26378076   PMID:26403783   PMID:26403784   PMID:26408403   PMID:26408698   PMID:26419843  
PMID:26424759   PMID:26464193   PMID:26464688   PMID:26470780   PMID:26473645   PMID:26483045   PMID:26484769   PMID:26487587   PMID:26512615   PMID:26515600   PMID:26517811   PMID:26527522  
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PMID:32134157   PMID:32143684   PMID:32152503   PMID:32154654   PMID:32166496   PMID:32178965   PMID:32183950   PMID:32191146   PMID:32191754   PMID:32192776   PMID:32193699   PMID:32198140  
PMID:32200323   PMID:32203167   PMID:32203210   PMID:32203213   PMID:32210369   PMID:32211792   PMID:32222780   PMID:32236615   PMID:32238865   PMID:32243638   PMID:32245950   PMID:32246989  
PMID:32248797   PMID:32251621   PMID:32255189   PMID:32264742   PMID:32277292   PMID:32277627   PMID:32294103   PMID:32314040   PMID:32319563   PMID:32321471   PMID:32325698   PMID:32331794  
PMID:32335324   PMID:32339606   PMID:32344357   PMID:32358635   PMID:32377817   PMID:32377818   PMID:32384321   PMID:32386458   PMID:32388585   PMID:32392925   PMID:32405745   PMID:32406589  
PMID:32411801   PMID:32418990   PMID:32424767   PMID:32430672   PMID:32430734   PMID:32445029   PMID:32446718   PMID:32447649   PMID:32448984   PMID:32458769   PMID:32459310   PMID:32459892  
PMID:32463489   PMID:32468028   PMID:32468210   PMID:32483441   PMID:32493964   PMID:32498941   PMID:32520957   PMID:32529260   PMID:32546692   PMID:32554931   PMID:32557663   PMID:32576238  
PMID:32577816   PMID:32578199   PMID:32579541   PMID:32586689   PMID:32588395   PMID:32596285   PMID:32616706   PMID:32620612   PMID:32620644   PMID:32632098   PMID:32633234   PMID:32641599  
PMID:32672418   PMID:32679050   PMID:32681519   PMID:32685057   PMID:32687248   PMID:32700091   PMID:32704067   PMID:32712650   PMID:32718057   PMID:32724129   PMID:32724483   PMID:32724815  
PMID:32726470   PMID:32730911   PMID:32744106   PMID:32746878   PMID:32751328   PMID:32762373   PMID:32768186   PMID:32770259   PMID:32802199   PMID:32803453   PMID:32816860   PMID:32828292  
PMID:32839486   PMID:32839551   PMID:32854477   PMID:32855204   PMID:32860814   PMID:32862461   PMID:32862585   PMID:32864684   PMID:32866782   PMID:32874188   PMID:32881084   PMID:32883520  
PMID:32884946   PMID:32892196   PMID:32894642   PMID:32915266   PMID:32915645   PMID:32917214   PMID:32920160   PMID:32921017   PMID:32929059   PMID:32951108   PMID:32960817   PMID:32962309  
PMID:32977151   PMID:32986884   PMID:32987122   PMID:32992412   PMID:32999345   PMID:33022760   PMID:33031808   PMID:33039811   PMID:33045001   PMID:33045663   PMID:33054597   PMID:33058325  
PMID:33059196   PMID:33063451   PMID:33084148   PMID:33089401   PMID:33094805   PMID:33109533   PMID:33113005   PMID:33113541   PMID:33121190   PMID:33127884   PMID:33128107   PMID:33132244  
PMID:33137405   PMID:33145941   PMID:33155337   PMID:33162971   PMID:33168738   PMID:33168847   PMID:33187013   PMID:33196892   PMID:33204322   PMID:33216211   PMID:33232723   PMID:33233528  
PMID:33236151   PMID:33246647   PMID:33247999   PMID:33266349   PMID:33268574   PMID:33273548   PMID:33300360   PMID:33301655   PMID:33315908   PMID:33318295   PMID:33328484   PMID:33337839  
PMID:33359128   PMID:33359245   PMID:33386384   PMID:33387039   PMID:33492995   PMID:33508291   PMID:33521133   PMID:33583114   PMID:33605797   PMID:33611059   PMID:33641057   PMID:33649593  
PMID:33676601   PMID:33683684   PMID:33683685   PMID:33721560   PMID:33730723   PMID:33760188   PMID:33765613   PMID:33782411   PMID:33793112   PMID:33811537   PMID:33832149   PMID:33879767  
PMID:33946835   PMID:33952478   PMID:34049578   PMID:34078046  


Genomics

Comparative Map Data
CD274
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl95,450,503 - 5,470,566 (+)EnsemblGRCh38hg38GRCh38
GRCh3895,450,542 - 5,470,554 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3795,450,542 - 5,470,554 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3695,440,559 - 5,458,477 (+)NCBINCBI36hg18NCBI36
Celera95,376,139 - 5,396,204 (+)NCBI
Cytogenetic Map9p24.1NCBI
HuRef95,406,210 - 5,426,274 (+)NCBIHuRef
CHM1_195,450,664 - 5,470,759 (+)NCBICHM1_1
Cd274
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391929,339,428 - 29,365,495 (+)NCBIGRCm39mm39
GRCm39 Ensembl1929,344,855 - 29,365,495 (+)Ensembl
GRCm381929,362,107 - 29,388,095 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1929,367,455 - 29,388,095 (+)EnsemblGRCm38mm10GRCm38
MGSCv371929,441,928 - 29,462,585 (+)NCBIGRCm37mm9NCBIm37
MGSCv361929,433,452 - 29,454,092 (+)NCBImm8
Celera1930,144,050 - 30,164,685 (+)NCBICelera
Cytogenetic Map19C1NCBI
Cd274
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21227,116,627 - 227,137,379 (+)NCBI
Rnor_6.0 Ensembl1247,519,939 - 247,537,943 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01247,519,890 - 247,539,659 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01254,768,528 - 254,788,292 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41233,053,607 - 233,065,384 (+)NCBIRGSC3.4rn4RGSC3.4
Celera1224,273,306 - 224,285,083 (+)NCBICelera
Cytogenetic Map1q52NCBI
Cd274
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554349,487,315 - 9,505,904 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554349,487,309 - 9,508,366 (+)NCBIChiLan1.0ChiLan1.0
CD274
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.195,454,391 - 5,474,452 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl95,454,391 - 5,474,402 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v095,269,270 - 5,289,629 (+)NCBIMhudiblu_PPA_v0panPan3
CD274
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1193,461,735 - 93,605,772 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl193,585,518 - 93,603,522 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha193,993,732 - 94,011,736 (+)NCBI
ROS_Cfam_1.0194,015,405 - 94,159,596 (+)NCBI
UMICH_Zoey_3.1193,771,527 - 93,789,533 (+)NCBI
UNSW_CanFamBas_1.0193,496,313 - 93,514,317 (+)NCBI
UU_Cfam_GSD_1.0194,260,510 - 94,278,519 (+)NCBI
Cd274
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947141,675,278 - 141,693,582 (+)NCBI
SpeTri2.0NW_004936539132,870 - 145,288 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CD274
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1216,660,047 - 216,792,724 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11216,646,378 - 216,792,731 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21242,395,402 - 242,416,220 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CD274
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11274,038,844 - 74,060,662 (-)NCBI
ChlSab1.1 Ensembl1274,041,767 - 74,056,806 (-)Ensembl
Vero_WHO_p1.0NW_02366603862,428,363 - 62,448,555 (-)NCBI
Cd274
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247369,991,851 - 10,017,047 (+)NCBI

Position Markers
RH45176  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3795,469,986 - 5,470,177UniSTSGRCh37
Build 3695,459,986 - 5,460,177RGDNCBI36
Celera95,395,623 - 5,395,814RGD
Cytogenetic Map9p24UniSTS
GeneMap99-GB4 RH Map924.45UniSTS
NCBI RH Map944.9UniSTS
RH92039  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3795,463,000 - 5,463,119UniSTSGRCh37
Build 3695,453,000 - 5,453,119RGDNCBI36
Celera95,388,637 - 5,388,756RGD
Cytogenetic Map9p24UniSTS
HuRef95,418,708 - 5,418,827UniSTS
GeneMap99-GB4 RH Map924.45UniSTS
SHGC-83529  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3795,454,147 - 5,454,443UniSTSGRCh37
Build 3695,444,147 - 5,444,443RGDNCBI36
Celera95,379,784 - 5,380,080RGD
Cytogenetic Map9p24UniSTS
HuRef95,409,855 - 5,410,151UniSTS
TNG Radiation Hybrid Map92549.0UniSTS
PDCD1LG1_2379  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3795,467,839 - 5,468,480UniSTSGRCh37
Build 3695,457,839 - 5,458,480RGDNCBI36
Celera95,393,476 - 5,394,117RGD
HuRef95,423,546 - 5,424,187UniSTS
RH78877  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3795,470,274 - 5,470,399UniSTSGRCh37
Build 3695,460,274 - 5,460,399RGDNCBI36
Celera95,395,911 - 5,396,036RGD
Cytogenetic Map9p24UniSTS
HuRef95,425,981 - 5,426,106UniSTS
GeneMap99-GB4 RH Map922.93UniSTS
NCBI RH Map945.3UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR513A2hsa-miR-513a-5pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI19155478
MIR513A2hsa-miR-513a-5pMirecordsexternal_infoNANA19155478

Predicted Target Of
Summary Value
Count of predictions:2655
Count of miRNA genes:846
Interacting mature miRNAs:980
Transcripts:ENST00000381573, ENST00000381577, ENST00000474218, ENST00000492923, ENST00000498261
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 pharyngeal arch
High
Medium 42 214 47 17 803 19 34 67 57 27 69 643 4 39 4 3
Low 2322 2636 1615 554 976 395 3844 1996 3120 379 1339 928 165 1164 2608
Below cutoff 66 134 59 50 156 48 456 120 532 12 37 34 3 1 176 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001267706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001314029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_052005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA399416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF177937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF233516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI826502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL135786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL162253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY254342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY291313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY714881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC074984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB160805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ286582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ836393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA738699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000381573   ⟹   ENSP00000370985
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl95,450,503 - 5,470,566 (+)Ensembl
RefSeq Acc Id: ENST00000381577   ⟹   ENSP00000370989
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl95,450,542 - 5,470,554 (+)Ensembl
RefSeq Acc Id: ENST00000474218
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl95,457,384 - 5,463,238 (+)Ensembl
RefSeq Acc Id: ENST00000492923
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl95,462,935 - 5,465,912 (+)Ensembl
RefSeq Acc Id: ENST00000498261
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl95,456,114 - 5,467,866 (+)Ensembl
RefSeq Acc Id: NM_001267706   ⟹   NP_001254635
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3895,450,542 - 5,470,554 (+)NCBI
GRCh3795,450,503 - 5,470,567 (+)NCBI
HuRef95,406,210 - 5,426,274 (+)NCBI
CHM1_195,450,664 - 5,470,759 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001314029   ⟹   NP_001300958
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3895,450,542 - 5,463,238 (+)NCBI
CHM1_195,450,664 - 5,463,432 (+)NCBI
Sequence:
RefSeq Acc Id: NM_014143   ⟹   NP_054862
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3895,450,542 - 5,470,554 (+)NCBI
GRCh3795,450,503 - 5,470,567 (+)ENTREZGENE
Build 3695,440,559 - 5,458,477 (+)NCBI Archive
HuRef95,406,210 - 5,426,274 (+)ENTREZGENE
CHM1_195,450,664 - 5,470,759 (+)NCBI
Sequence:
RefSeq Acc Id: NR_052005
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3895,450,542 - 5,470,554 (+)NCBI
GRCh3795,450,503 - 5,470,567 (+)NCBI
HuRef95,406,210 - 5,426,274 (+)NCBI
CHM1_195,450,664 - 5,470,759 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_054862   ⟸   NM_014143
- Peptide Label: isoform a precursor
- UniProtKB: Q9NZQ7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001254635   ⟸   NM_001267706
- Peptide Label: isoform b precursor
- UniProtKB: Q9NZQ7 (UniProtKB/Swiss-Prot),   Q0GN75 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001300958   ⟸   NM_001314029
- Peptide Label: isoform c precursor
- UniProtKB: Q0GN75 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000370989   ⟸   ENST00000381577
RefSeq Acc Id: ENSP00000370985   ⟸   ENST00000381573
Protein Domains
Ig-like   Ig-like C2-type   Ig-like V-type

Promoters
RGD ID:6807369
Promoter ID:HG_KWN:62540
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000262354,   ENST00000381573,   NM_014143
Position:
Human AssemblyChrPosition (strand)Source
Build 3695,440,299 - 5,440,799 (+)MPROMDB
RGD ID:6807978
Promoter ID:HG_KWN:62541
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:UC003ZJF.1,   UC010MHN.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3695,445,231 - 5,445,731 (+)MPROMDB
RGD ID:6807367
Promoter ID:HG_KWN:62542
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000051633
Position:
Human AssemblyChrPosition (strand)Source
Build 3695,446,576 - 5,447,422 (+)MPROMDB
RGD ID:7214619
Promoter ID:EPDNEW_H13056
Type:initiation region
Name:CD274_1
Description:CD274 molecule
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3895,450,542 - 5,450,602EPDNEW
RGD ID:6807366
Promoter ID:HG_KWN:62543
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:OTTHUMT00000051632
Position:
Human AssemblyChrPosition (strand)Source
Build 3695,452,116 - 5,453,207 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000050357] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-13974100)x1 copy number loss See cases [RCV000050831] Chr9:204193..13974100 [GRCh38]
Chr9:204193..13974099 [GRCh37]
Chr9:194193..13964099 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:1592306-12387899)x3 copy number gain See cases [RCV000050612] Chr9:1592306..12387899 [GRCh38]
Chr9:1592306..12387899 [GRCh37]
Chr9:1582306..12377899 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.1(chr9:4970093-5483250)x1 copy number loss See cases [RCV000051142] Chr9:4970093..5483250 [GRCh38]
Chr9:4970093..5483250 [GRCh37]
Chr9:4960093..5473250 [NCBI36]
Chr9:9p24.1		 uncertain significance
GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3 copy number gain See cases [RCV000051106] Chr9:204193..38741440 [GRCh38]
Chr9:204193..38741437 [GRCh37]
Chr9:194193..38731437 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:211087-13754567)x1 copy number loss See cases [RCV000052856] Chr9:211087..13754567 [GRCh38]
Chr9:211087..13754566 [GRCh37]
Chr9:201087..13744566 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:220253-6073001)x1 copy number loss See cases [RCV000052858] Chr9:220253..6073001 [GRCh38]
Chr9:220253..6073001 [GRCh37]
Chr9:210253..6063001 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-22.2(chr9:220253-18073359)x1 copy number loss See cases [RCV000052860] Chr9:220253..18073359 [GRCh38]
Chr9:220253..18073357 [GRCh37]
Chr9:210253..18063357 [NCBI36]
Chr9:9p24.3-22.2		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:220253-6968724)x1 copy number loss See cases [RCV000052861] Chr9:220253..6968724 [GRCh38]
Chr9:220253..6968724 [GRCh37]
Chr9:210253..6958724 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-22.1(chr9:1242978-18957216)x1 copy number loss See cases [RCV000052863] Chr9:1242978..18957216 [GRCh38]
Chr9:1242978..18957214 [GRCh37]
Chr9:1232978..18947214 [NCBI36]
Chr9:9p24.3-22.1		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203993-38815619)x3 copy number gain See cases [RCV000053703] Chr9:203993..38815619 [GRCh38]
Chr9:203993..38815616 [GRCh37]
Chr9:193993..38805616 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-21.3(chr9:204193-22086858)x3 copy number gain See cases [RCV000053704] Chr9:204193..22086858 [GRCh38]
Chr9:204193..22086857 [GRCh37]
Chr9:194193..22076857 [NCBI36]
Chr9:9p24.3-21.3		 pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204193-34599437)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|See cases [RCV000053706] Chr9:204193..34599437 [GRCh38]
Chr9:204193..34599435 [GRCh37]
Chr9:194193..34589435 [NCBI36]
Chr9:9p24.3-13.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3 copy number gain See cases [RCV000053707] Chr9:204193..33284638 [GRCh38]
Chr9:204193..33284636 [GRCh37]
Chr9:194193..33274636 [NCBI36]
Chr9:9p24.3-13.3		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-10340779)x1 copy number loss See cases [RCV000054331] Chr9:204193..10340779 [GRCh38]
Chr9:204193..10340779 [GRCh37]
Chr9:194193..10330779 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-12302772)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054332]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054332]|See cases [RCV000054332] Chr9:204193..12302772 [GRCh38]
Chr9:204193..12302772 [GRCh37]
Chr9:194193..12292772 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-13276053)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054334]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054334]|See cases [RCV000054334] Chr9:204193..13276053 [GRCh38]
Chr9:204193..13276052 [GRCh37]
Chr9:194193..13266052 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-9363321)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054336]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054336]|See cases [RCV000054336] Chr9:204193..9363321 [GRCh38]
Chr9:204193..9363321 [GRCh37]
Chr9:194193..9353321 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-13454719)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054338]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054338]|See cases [RCV000054338] Chr9:204193..13454719 [GRCh38]
Chr9:204193..13454718 [GRCh37]
Chr9:194193..13444718 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:211086-6106482)x1 copy number loss See cases [RCV000054340] Chr9:211086..6106482 [GRCh38]
Chr9:211086..6106482 [GRCh37]
Chr9:201086..6096482 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:211086-11867480)x1 copy number loss See cases [RCV000054341] Chr9:211086..11867480 [GRCh38]
Chr9:211086..11867480 [GRCh37]
Chr9:201086..11857480 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:111216-14650762)x1 copy number loss See cases [RCV000054315] Chr9:111216..14650762 [GRCh38]
Chr9:111216..14650760 [GRCh37]
Chr9:101216..14640760 [NCBI36]
Chr9:9p24.3-22.3		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:195399-11081440)x1 copy number loss See cases [RCV000054316] Chr9:195399..11081440 [GRCh38]
Chr9:199707..11081440 [GRCh37]
Chr9:182102..11071440 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:203993-13753101)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054317]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054317]|See cases [RCV000054317] Chr9:203993..13753101 [GRCh38]
Chr9:203993..13753100 [GRCh37]
Chr9:193993..13743100 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:203993-12621562)x1 copy number loss See cases [RCV000054327] Chr9:203993..12621562 [GRCh38]
Chr9:203993..12621562 [GRCh37]
Chr9:193993..12611562 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3 copy number gain See cases [RCV000053747] Chr9:220253..38815419 [GRCh38]
Chr9:220253..38815416 [GRCh37]
Chr9:210253..38805416 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-10473327)x1 copy number loss See cases [RCV000133873] Chr9:204193..10473327 [GRCh38]
Chr9:204193..10473327 [GRCh37]
Chr9:194193..10463327 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-22.2(chr9:204193-18073359)x1 copy number loss See cases [RCV000133825] Chr9:204193..18073359 [GRCh38]
Chr9:204193..18073357 [GRCh37]
Chr9:194193..18063357 [NCBI36]
Chr9:9p24.3-22.2		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-10164955)x1 copy number loss See cases [RCV000133728] Chr9:204193..10164955 [GRCh38]
Chr9:204193..10164955 [GRCh37]
Chr9:194193..10154955 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-21.1(chr9:220257-29424848)x3 copy number gain See cases [RCV000134037] Chr9:220257..29424848 [GRCh38]
Chr9:220257..29424846 [GRCh37]
Chr9:210257..29414846 [NCBI36]
Chr9:9p24.3-21.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204090-13146846)x1 copy number loss See cases [RCV000134126] Chr9:204090..13146846 [GRCh38]
Chr9:204090..13146845 [GRCh37]
Chr9:194090..13136845 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-11277770)x1 copy number loss See cases [RCV000133923] Chr9:204193..11277770 [GRCh38]
Chr9:204193..11277770 [GRCh37]
Chr9:194193..11267770 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3 copy number gain See cases [RCV000135344] Chr9:13997..68401065 [GRCh38]
Chr9:13997..71015981 [GRCh37]
Chr9:3997..70205801 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic
GRCh38/hg38 9p24.3-22.1(chr9:220253-18708805)x1 copy number loss See cases [RCV000135660] Chr9:220253..18708805 [GRCh38]
Chr9:220253..18708803 [GRCh37]
Chr9:210253..18698803 [NCBI36]
Chr9:9p24.3-22.1		 pathogenic
GRCh38/hg38 9p24.3-22.1(chr9:204104-18882281)x1 copy number loss See cases [RCV000135694] Chr9:204104..18882281 [GRCh38]
Chr9:204104..18882279 [GRCh37]
Chr9:194104..18872279 [NCBI36]
Chr9:9p24.3-22.1		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:220253-8866675)x1 copy number loss See cases [RCV000135434] Chr9:220253..8866675 [GRCh38]
Chr9:220253..8866675 [GRCh37]
Chr9:210253..8856675 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204193-6968724)x1 copy number loss See cases [RCV000135544] Chr9:204193..6968724 [GRCh38]
Chr9:204193..6968724 [GRCh37]
Chr9:194193..6958724 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-10852686)x1 copy number loss See cases [RCV000135563] Chr9:204193..10852686 [GRCh38]
Chr9:204193..10852686 [GRCh37]
Chr9:194193..10842686 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 copy number gain See cases [RCV000136152] Chr9:193412..70630731 [GRCh38]
Chr9:220253..73245647 [GRCh37]
Chr9:210253..72435467 [NCBI36]
Chr9:9p24.3-q21.12		 pathogenic
GRCh38/hg38 9p24.3-22.2(chr9:204193-16897580)x1 copy number loss See cases [RCV000135968] Chr9:204193..16897580 [GRCh38]
Chr9:204193..16897578 [GRCh37]
Chr9:194193..16887578 [NCBI36]
Chr9:9p24.3-22.2		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204104-11298187)x1 copy number loss See cases [RCV000135935] Chr9:204104..11298187 [GRCh38]
Chr9:204104..11298187 [GRCh37]
Chr9:194104..11288187 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 copy number gain See cases [RCV000135954] Chr9:193412..74615913 [GRCh38]
Chr9:204193..77230829 [GRCh37]
Chr9:194193..76420649 [NCBI36]
Chr9:9p24.3-q21.13		 pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:214367-16307944)x1 copy number loss See cases [RCV000136859] Chr9:214367..16307944 [GRCh38]
Chr9:214367..16307942 [GRCh37]
Chr9:204367..16297942 [NCBI36]
Chr9:9p24.3-22.3		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-11435662)x1 copy number loss See cases [RCV000136966] Chr9:204193..11435662 [GRCh38]
Chr9:204193..11435662 [GRCh37]
Chr9:194193..11425662 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.2-24.1(chr9:4152060-8518353)x1 copy number loss See cases [RCV000136787] Chr9:4152060..8518353 [GRCh38]
Chr9:4152060..8518353 [GRCh37]
Chr9:4142060..8508353 [NCBI36]
Chr9:9p24.2-24.1		 pathogenic
GRCh38/hg38 9p24.2-23(chr9:3591159-9361786)x3 copy number gain See cases [RCV000136729] Chr9:3591159..9361786 [GRCh38]
Chr9:3591159..9361786 [GRCh37]
Chr9:3581159..9351786 [NCBI36]
Chr9:9p24.2-23		 pathogenic
GRCh38/hg38 9p24.1-21.2(chr9:4661872-27661572)x3 copy number gain See cases [RCV000136680] Chr9:4661872..27661572 [GRCh38]
Chr9:4661872..27661570 [GRCh37]
Chr9:4651872..27651570 [NCBI36]
Chr9:9p24.1-21.2		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204104-14182668)x1 copy number loss See cases [RCV000137669] Chr9:204104..14182668 [GRCh38]
Chr9:204104..14182667 [GRCh37]
Chr9:194104..14172667 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204104-8266492)x1 copy number loss See cases [RCV000137455] Chr9:204104..8266492 [GRCh38]
Chr9:204104..8266492 [GRCh37]
Chr9:194104..8256492 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204104-11610300)x3 copy number gain See cases [RCV000137382] Chr9:204104..11610300 [GRCh38]
Chr9:204104..11610300 [GRCh37]
Chr9:194104..11600300 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204104-5695507)x1 copy number loss See cases [RCV000137376] Chr9:204104..5695507 [GRCh38]
Chr9:204104..5695507 [GRCh37]
Chr9:194104..5685507 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204104-5657733)x1 copy number loss See cases [RCV000138118] Chr9:204104..5657733 [GRCh38]
Chr9:204104..5657733 [GRCh37]
Chr9:194104..5647733 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204104-10023901)x1 copy number loss See cases [RCV000138119] Chr9:204104..10023901 [GRCh38]
Chr9:204104..10023901 [GRCh37]
Chr9:194104..10013901 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204104-7133443)x1 copy number loss See cases [RCV000137745] Chr9:204104..7133443 [GRCh38]
Chr9:204104..7133443 [GRCh37]
Chr9:194104..7123443 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4 copy number gain See cases [RCV000137888] Chr9:204104..66233120 [GRCh38]
Chr9:204104..47212321 [GRCh37]
Chr9:194104..47002141 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-21.3(chr9:459131-24207894)x3 copy number gain See cases [RCV000138499] Chr9:459131..24207894 [GRCh38]
Chr9:459131..24207892 [GRCh37]
Chr9:449131..24197892 [NCBI36]
Chr9:9p24.3-21.3		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3 copy number gain See cases [RCV000139208] Chr9:204104..67549861 [GRCh38]
Chr9:204104..66516698 [GRCh37]
Chr9:194104..66256518 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3 copy number gain See cases [RCV000139015] Chr9:204104..34151476 [GRCh38]
Chr9:204104..34151474 [GRCh37]
Chr9:194104..34141474 [NCBI36]
Chr9:9p24.3-13.3		 pathogenic|likely benign
GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3 copy number gain See cases [RCV000139126] Chr9:204104..38768294 [GRCh38]
Chr9:204104..38768291 [GRCh37]
Chr9:194104..38758291 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-24.1(chr9:204104-6322471)x1 copy number loss See cases [RCV000140410] Chr9:204104..6322471 [GRCh38]
Chr9:204104..6322471 [GRCh37]
Chr9:194104..6312471 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204090-9282864)x1 copy number loss See cases [RCV000139566] Chr9:204090..9282864 [GRCh38]
Chr9:204090..9282864 [GRCh37]
Chr9:194090..9272864 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-21.2(chr9:204104-27963369)x3 copy number gain See cases [RCV000139621] Chr9:204104..27963369 [GRCh38]
Chr9:204104..27963367 [GRCh37]
Chr9:194104..27953367 [NCBI36]
Chr9:9p24.3-21.2		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:185579-7635806)x1 copy number loss See cases [RCV000141407] Chr9:185579..7635806 [GRCh38]
Chr9:185579..7635806 [GRCh37]
Chr9:175579..7625806 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:211086-11457340)x1 copy number loss See cases [RCV000141408] Chr9:211086..11457340 [GRCh38]
Chr9:211086..11457340 [GRCh37]
Chr9:201086..11447340 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:211086-7444397)x1 copy number loss See cases [RCV000140601] Chr9:211086..7444397 [GRCh38]
Chr9:211086..7444397 [GRCh37]
Chr9:201086..7434397 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-21.1(chr9:203861-31423873)x4 copy number gain See cases [RCV000141662] Chr9:203861..31423873 [GRCh38]
Chr9:203861..31423871 [GRCh37]
Chr9:193861..31413871 [NCBI36]
Chr9:9p24.3-21.1		 pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:322690-16401656)x1 copy number loss See cases [RCV000141442] Chr9:322690..16401656 [GRCh38]
Chr9:322690..16401654 [GRCh37]
Chr9:312690..16391654 [NCBI36]
Chr9:9p24.3-22.3		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:203861-8172957)x1 copy number loss See cases [RCV000142074] Chr9:203861..8172957 [GRCh38]
Chr9:203861..8172957 [GRCh37]
Chr9:193861..8162957 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:204090-15260600)x1 copy number loss See cases [RCV000142964] Chr9:204090..15260600 [GRCh38]
Chr9:204090..15260598 [GRCh37]
Chr9:194090..15250598 [NCBI36]
Chr9:9p24.3-22.3		 pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:220253-7733826)x1 copy number loss See cases [RCV000142688] Chr9:220253..7733826 [GRCh38]
Chr9:220253..7733826 [GRCh37]
Chr9:210253..7723826 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642) copy number gain See cases [RCV000143411] Chr9:203861..38381642 [GRCh38]
Chr9:203861..38381639 [GRCh37]
Chr9:193861..38371639 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000148159] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3 copy number gain See cases [RCV000240201] Chr9:163131..38763958 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:13997-11376705)x1 copy number loss See cases [RCV000239799] Chr9:13997..11376705 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.2-24.1(chr9:4287179-5579213)x3 copy number gain Premature ovarian failure [RCV000225326] Chr9:4287179..5579213 [GRCh37]
Chr9:9p24.2-24.1		 benign
GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4 copy number gain See cases [RCV000240048] Chr9:213161..47212321 [GRCh37]
Chr9:9p24.3-11.2		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3 copy number gain See cases [RCV000239869] Chr9:213161..39092820 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-22.1(chr9:213161-19450250)x3 copy number gain See cases [RCV000240225] Chr9:213161..19450250 [GRCh37]
Chr9:9p24.3-22.1		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68188391)x4 copy number gain See cases [RCV000449165] Chr9:203861..68188391 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-15211277)x1 copy number loss See cases [RCV000446597] Chr9:203861..15211277 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211) copy number gain See cases [RCV000447246] Chr9:32396..39140211 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:203861-5909152)x1 copy number loss See cases [RCV000447358] Chr9:203861..5909152 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain See cases [RCV000446521] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-16925108)x1 copy number loss See cases [RCV000447415] Chr9:203861..16925108 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-14322268)x1 copy number loss See cases [RCV000447144] Chr9:203861..14322268 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-16670878)x1 copy number loss See cases [RCV000446566] Chr9:203861..16670878 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain See cases [RCV000447207] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-16856907)x1 copy number loss See cases [RCV000445963] Chr9:203861..16856907 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:213161-17496750)x1 copy number loss See cases [RCV000445998] Chr9:213161..17496750 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-11414732)x1 copy number loss See cases [RCV000448147] Chr9:203861..11414732 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.1(chr9:5346037-5452625)x1 copy number loss See cases [RCV000447887] Chr9:5346037..5452625 [GRCh37]
Chr9:9p24.1		 uncertain significance
GRCh37/hg19 9p24.3-24.1(chr9:203861-8735462)x1 copy number loss See cases [RCV000448304] Chr9:203861..8735462 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3 copy number gain See cases [RCV000448569] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4 copy number gain See cases [RCV000448242] Chr9:13997..70919878 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-17125893)x1 copy number loss See cases [RCV000512122] Chr9:203861..17125893 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.2-22.3(chr9:4581369-14848338)x1 copy number loss See cases [RCV000510332] Chr9:4581369..14848338 [GRCh37]
Chr9:9p24.2-22.3		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-13486759)x1 copy number loss See cases [RCV000511432] Chr9:203861..13486759 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-17655298)x1 copy number loss See cases [RCV000510944] Chr9:203861..17655298 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain See cases [RCV000510864] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-10700288)x3 copy number gain See cases [RCV000510843] Chr9:203861..10700288 [GRCh37]
Chr9:9p24.3-23		 likely pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4 copy number gain Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus [RCV000677299] Chr9:204193..44259464 [GRCh37]
Chr9:9p24.3-11.2		 likely pathogenic
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:203861-7007586)x1 copy number loss not provided [RCV000683162] Chr9:203861..7007586 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-9924905)x1 copy number loss not provided [RCV000683166] Chr9:203861..9924905 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-11271239)x1 copy number loss not provided [RCV000683167] Chr9:203861..11271239 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-14744606)x1 copy number loss not provided [RCV000683168] Chr9:203861..14744606 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain not provided [RCV000683172] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.1(chr9:5449153-5900427)x1 copy number loss not provided [RCV000683121] Chr9:5449153..5900427 [GRCh37]
Chr9:9p24.1		 uncertain significance
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4 copy number gain not provided [RCV000683175] Chr9:203861..70985795 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-9306658)x1 copy number loss not provided [RCV000683164] Chr9:203861..9306658 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-21.3(chr9:203861-20653468)x3 copy number gain not provided [RCV000683170] Chr9:203861..20653468 [GRCh37]
Chr9:9p24.3-21.3		 pathogenic
GRCh37/hg19 9p24.3-21.2(chr9:203861-26397133)x3 copy number gain not provided [RCV000683171] Chr9:203861..26397133 [GRCh37]
Chr9:9p24.3-21.2		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain not provided [RCV000683173] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4 copy number gain not provided [RCV000683174] Chr9:203861..68262804 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3 copy number gain not provided [RCV000683176] Chr9:203861..72717793 [GRCh37]
Chr9:9p24.3-q21.12		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:46587-5486856)x1 copy number loss not provided [RCV000748059] Chr9:46587..5486856 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:46587-12532584)x1 copy number loss not provided [RCV000748060] Chr9:46587..12532584 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:46587-13708607)x1 copy number loss not provided [RCV000748061] Chr9:46587..13708607 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-21.3(chr9:46587-22012051)x3 copy number gain not provided [RCV000748062] Chr9:46587..22012051 [GRCh37]
Chr9:9p24.3-21.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.2-21.3(chr9:4420767-22195820)x3 copy number gain not provided [RCV000748122] Chr9:4420767..22195820 [GRCh37]
Chr9:9p24.2-21.3		 pathogenic
GRCh37/hg19 9p24.1(chr9:5381870-5523773)x3 copy number gain not provided [RCV000748142] Chr9:5381870..5523773 [GRCh37]
Chr9:9p24.1		 benign
GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958) copy number gain not provided [RCV000767644] Chr9:214309..39156958 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3 copy number gain not provided [RCV000845815] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-22.1(chr9:203861-19448473)x3 copy number gain not provided [RCV000845664] Chr9:203861..19448473 [GRCh37]
Chr9:9p24.3-22.1		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-14103730)x1 copy number loss not provided [RCV001006165] Chr9:203861..14103730 [GRCh37]
Chr9:9p24.3-23		 pathogenic
NM_014143.4(CD274):c.363C>A (p.Ala121=) single nucleotide variant not provided [RCV000914224] Chr9:5457389 [GRCh38]
Chr9:5457389 [GRCh37]
Chr9:9p24.1		 benign
GRCh37/hg19 9p24.3-22.2(chr9:203861-17789410)x1 copy number loss not provided [RCV001006163] Chr9:203861..17789410 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.1(chr9:4613939-6144065)x1 copy number loss not provided [RCV001006191] Chr9:4613939..6144065 [GRCh37]
Chr9:9p24.1		 uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3 copy number gain not provided [RCV000848175] Chr9:203861..38472979 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-10666419)x1 copy number loss not provided [RCV001006164] Chr9:203861..10666419 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-14080419)x1 copy number loss not provided [RCV001006166] Chr9:203861..14080419 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-11033228)x1 copy number loss not provided [RCV000848063] Chr9:203861..11033228 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-11028975)x1 copy number loss not provided [RCV000848089] Chr9:203861..11028975 [GRCh37]
Chr9:9p24.3-23		 pathogenic
NM_014143.4(CD274):c.198A>G (p.Gln66=) single nucleotide variant not provided [RCV000975204] Chr9:5457224 [GRCh38]
Chr9:5457224 [GRCh37]
Chr9:9p24.1		 benign
GRCh37/hg19 9p24.3-22.2(chr9:204193-18073357)x1 copy number loss Chromosome 9p deletion syndrome [RCV001263225] Chr9:204193..18073357 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3 copy number gain not provided [RCV001006167] Chr9:203861..70984588 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-22.1(chr9:204193-18654812) copy number loss Trigonocephaly [RCV001352660] Chr9:204193..18654812 [GRCh37]
Chr9:9p24.3-22.1		 pathogenic
GRCh37/hg19 9p24.2-24.1(chr9:2854435-6937677) copy number gain Global developmental delay [RCV001352644] Chr9:2854435..6937677 [GRCh37]
Chr9:9p24.2-24.1		 pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17635 AgrOrtholog
COSMIC CD274 COSMIC
Ensembl Genes ENSG00000120217 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000370985 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000370989 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000381573 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000381577 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000120217 GTEx
HGNC ID HGNC:17635 ENTREZGENE
Human Proteome Map CD274 Human Proteome Map
InterPro CD80_C2-set UniProtKB/Swiss-Prot
  Ig-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_sub UniProtKB/Swiss-Prot
  Ig_V-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:29126 UniProtKB/Swiss-Prot
NCBI Gene 29126 ENTREZGENE
OMIM 605402 OMIM
Pfam C2-set_2 UniProtKB/Swiss-Prot
  V-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134915280 PharmGKB
PROSITE IG_LIKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00409 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48726 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt PD1L1_HUMAN UniProtKB/Swiss-Prot
  Q0GN75 ENTREZGENE, UniProtKB/TrEMBL
  Q9NZQ7 ENTREZGENE
UniProt Secondary B2RBA2 UniProtKB/Swiss-Prot
  B4DU27 UniProtKB/Swiss-Prot
  Q14CJ2 UniProtKB/Swiss-Prot
  Q2V8D5 UniProtKB/Swiss-Prot
  Q66RK1 UniProtKB/Swiss-Prot
  Q6WEX4 UniProtKB/Swiss-Prot
  Q9NUZ5 UniProtKB/Swiss-Prot