CP (ceruloplasmin) - Rat Genome Database
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Gene: CP (ceruloplasmin) Homo sapiens
Analyze
Symbol: CP
Name: ceruloplasmin
RGD ID: 736782
HGNC Page HGNC
Description: Exhibits chaperone binding activity. Predicted to be involved in cellular iron ion homeostasis and post-translational protein modification. Localizes to extracellular space. Implicated in aceruloplasminemia; epilepsy; and hemosiderosis. Biomarker of Wilson disease; cholestasis; type 1 diabetes mellitus; and type 2 diabetes mellitus.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ceruloplasmin (ferroxidase); CP-2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: CPHL1P   CPP  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl3149,162,410 - 149,221,829 (-)EnsemblGRCh38hg38GRCh38
GRCh383149,162,410 - 149,222,008 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh373148,880,201 - 148,939,616 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363150,373,220 - 150,422,519 (-)NCBINCBI36hg18NCBI36
Build 343150,374,073 - 150,422,277NCBI
Celera3147,300,808 - 147,350,343 (-)NCBI
Cytogenetic Map3q24-q25.1NCBI
HuRef3146,251,480 - 146,311,114 (-)NCBIHuRef
CHM1_13148,843,270 - 148,902,904 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-colchicine  (ISO)
1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane  (ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1,3,5-trinitro-1,3,5-triazinane  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (EXP,ISO)
17beta-estradiol  (EXP,ISO)
2,2,2-tetramine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-butoxyethanol  (ISO)
3',5'-cyclic AMP  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxynon-2-enal  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
7,9-dihydro-1H-purine-2,6,8(3H)-trione  (EXP)
acetamide  (ISO)
acrolein  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP,ISO)
alcohol  (EXP)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
ampicillin  (EXP)
antimycin A  (EXP)
antirheumatic drug  (EXP)
Aroclor 1254  (ISO)
arsenous acid  (EXP)
bacitracin  (ISO)
bathocuproine disulfonic acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bleomycin A2  (ISO)
butanal  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (ISO)
calcitriol  (EXP)
calcium atom  (EXP,ISO)
calcium(0)  (EXP,ISO)
carbamazepine  (ISO)
carbon nanotube  (ISO)
chloroacetaldehyde  (EXP)
cidofovir anhydrous  (EXP)
ciglitazone  (ISO)
cisplatin  (EXP,ISO)
clofibrate  (EXP,ISO)
cobalt dichloride  (EXP,ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) chloride  (EXP)
copper(II) sulfate  (EXP,ISO)
corticosterone  (ISO)
crocidolite asbestos  (EXP)
cyclosporin A  (EXP,ISO)
D-penicillamine  (EXP,ISO)
desferrioxamine B  (EXP)
dexamethasone  (ISO)
dextran sulfate  (ISO)
Diallyl sulfide  (ISO)
diarsenic trioxide  (EXP)
diazinon  (ISO)
dibenz[a,h]anthracene  (EXP)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
diethyl maleate  (ISO)
diethyldithiocarbamic acid  (EXP)
diethylstilbestrol  (ISO)
dimethyl sulfoxide  (ISO)
dioxygen  (EXP,ISO)
diuron  (ISO)
doxorubicin  (EXP,ISO)
endosulfan  (ISO)
ethylenediaminetetraacetic acid  (EXP)
felbamate  (ISO)
fluoranthene  (EXP)
flutamide  (ISO)
formic acid  (EXP)
fructose  (ISO)
fumonisin B1  (ISO)
furan  (ISO)
gabapentin  (ISO)
genistein  (ISO)
gentamycin  (ISO)
gestodene  (EXP)
glafenine  (ISO)
glyburide  (ISO)
hexachlorobenzene  (ISO)
hydrogen peroxide  (EXP,ISO)
indometacin  (ISO)
iron atom  (EXP,ISO)
iron(0)  (EXP,ISO)
isoprenaline  (ISO)
lactacystin  (ISO)
lead diacetate  (ISO)
lead(0)  (EXP)
lead(2+)  (EXP)
leflunomide  (ISO)
lipopolysaccharide  (ISO)
malonaldehyde  (EXP)
mercury atom  (EXP)
mercury(0)  (EXP)
methapyrilene  (EXP)
methoxychlor  (ISO)
methylglyoxal  (EXP)
mifepristone  (EXP)
morin  (ISO)
N,N-bis(2-hydroxypropyl)nitrosamine  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
Natamycin  (ISO)
nefazodone  (ISO)
nickel atom  (EXP)
nickel dichloride  (EXP)
nimesulide  (ISO)
nitrites  (ISO)
nitroglycerin  (ISO)
nystatin  (ISO)
ochratoxin A  (ISO)
olanzapine  (EXP)
paclitaxel  (ISO)
paracetamol  (EXP,ISO)
paricalcitol  (EXP)
pentanal  (EXP)
pentetic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP)
perfluorooctanoic acid  (ISO)
phenobarbital  (EXP,ISO)
phenytoin  (ISO)
phosphorus atom  (EXP)
phosphorus(.)  (EXP)
pirinixic acid  (ISO)
progesterone  (EXP,ISO)
propanal  (EXP)
prostaglandin E2  (ISO)
pyrrolidine dithiocarbamate  (EXP)
quercetin  (EXP)
quinolinic acid  (ISO)
rotenone  (EXP,ISO)
SB 203580  (ISO)
serpentine asbestos  (EXP)
silicon dioxide  (ISO)
silver atom  (ISO)
silver(0)  (ISO)
sirolimus  (ISO)
sodium arsenite  (ISO)
sodium atom  (EXP)
sodium azide  (EXP)
sodium fluoride  (ISO)
Soman  (ISO)
streptozocin  (ISO)
succimer  (ISO)
tacrolimus hydrate  (ISO)
tert-butyl hydroperoxide  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
tetrathiomolybdate(2-)  (EXP,ISO)
titanium dioxide  (ISO)
tolcapone  (ISO)
toluene  (ISO)
Triptolide  (ISO)
undecane  (ISO)
uranium atom  (ISO)
urethane  (EXP)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vincaleukoblastine  (ISO)
vinclozolin  (ISO)
vincristine  (ISO)
zinc atom  (EXP,ISO)
zinc dichloride  (EXP)
zinc sulfate  (EXP)
zinc(0)  (EXP,ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
1. Borodin JI, etal., Bull Exp Biol Med. 2008 Nov;146(5):566-8.
2. Chacko SK and Cheluvappa R, Exp Clin Endocrinol Diabetes. 2009 Oct 15.
3. Drakesmith H, etal., Cell Metab. 2015 Nov 3;22(5):777-87. doi: 10.1016/j.cmet.2015.09.006. Epub 2015 Oct 1.
4. El-Koofy N, etal., Arab J Gastroenterol. 2018 Mar;19(1):21-25. doi: 10.1016/j.ajg.2018.02.010. Epub 2018 Mar 6.
5. Garey CE, etal., Nat Genet 1994 Apr;6(4):426-31.
6. GOA_HUMAN data from the GO Consortium
7. Karthikeyan K, etal., J Cardiovasc Pharmacol. 2009 Feb;53(2):109-15.
8. Kim SW, etal., Proteomics. 2006 Oct;6(19):5291-302.
9. Li YW, etal., Neurosci Bull. 2008 Feb;24(1):13-20.
10. Mak CM, etal., Clin Chem. 2008 Aug;54(8):1356-62. doi: 10.1373/clinchem.2008.103432. Epub 2008 Jun 12.
11. Meng Y, etal., Biochim Biophys Acta 2004 Nov 5;1690(3):208-19.
12. Moulakakis KG, etal., In Vivo. 2007 Nov-Dec;21(6):1021-6.
13. OMIM Disease Annotation Pipeline
14. Pipeline to import KEGG annotations from KEGG into RGD
15. Pipeline to import Pathway Interaction Database annotations from NCI into RGD
16. Ramakrishna V and Jailkhani R, Diagn Pathol. 2007 Jul 1;2:22.
17. Ratheesh M, etal., Inflammopharmacology. 2009 Apr;17(2):100-5.
18. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
19. RGD automated import pipeline for gene-chemical interactions
20. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
21. Woo GH, etal., Cancer Sci. 2009 Apr;100(4):617-25. Epub 2009 Feb 25.
22. Yang S, etal., Acta Neurochir Suppl. 2006;96:203-6.
23. Yoshida K, etal., Nat Genet. 1995 Mar;9(3):267-72.
Additional References at PubMed
PMID:146197   PMID:463490   PMID:1463466   PMID:2105310   PMID:2154449   PMID:2332446   PMID:2355023   PMID:2873574   PMID:3474786   PMID:3486416   PMID:3755405   PMID:6337857  
PMID:6479854   PMID:6571985   PMID:6582496   PMID:6940148   PMID:6987229   PMID:6987230   PMID:7702601   PMID:7708681   PMID:8679709   PMID:8789443   PMID:8889548   PMID:8968753  
PMID:9097926   PMID:9360306   PMID:9445478   PMID:9500710   PMID:9727700   PMID:9788274   PMID:10490627   PMID:10660599   PMID:10666301   PMID:11040994   PMID:11095930   PMID:11681312  
PMID:11689010   PMID:11783942   PMID:11908641   PMID:12029093   PMID:12055353   PMID:12107410   PMID:12132593   PMID:12175089   PMID:12177070   PMID:12351628   PMID:12477932   PMID:12575997  
PMID:12708132   PMID:12724641   PMID:12952974   PMID:14702039   PMID:14718574   PMID:14760718   PMID:15084671   PMID:15103512   PMID:15111541   PMID:15174051   PMID:15479637   PMID:15557511  
PMID:15648851   PMID:15668644   PMID:15741220   PMID:15752613   PMID:16150804   PMID:16335952   PMID:16373913   PMID:16502470   PMID:16756764   PMID:16775387   PMID:16831606   PMID:17013908  
PMID:17032174   PMID:17404760   PMID:17597152   PMID:17601350   PMID:17637479   PMID:17661447   PMID:17688883   PMID:17897319   PMID:17965133   PMID:17991445   PMID:18022819   PMID:18060472  
PMID:18187043   PMID:18200628   PMID:18293024   PMID:18307039   PMID:18311828   PMID:18388036   PMID:18679377   PMID:18952589   PMID:18977241   PMID:19019832   PMID:19031316   PMID:19056867  
PMID:19095659   PMID:19159062   PMID:19164917   PMID:19228837   PMID:19382692   PMID:19471883   PMID:19585161   PMID:19648144   PMID:19670106   PMID:19681912   PMID:19821764   PMID:19916937  
PMID:19996109   PMID:20301334   PMID:20301666   PMID:20551380   PMID:20587610   PMID:20655381   PMID:20658982   PMID:20801540   PMID:21109502   PMID:21185807   PMID:21314617   PMID:21315066  
PMID:21474797   PMID:21706376   PMID:21873635   PMID:21901748   PMID:21988832   PMID:22075249   PMID:22145905   PMID:22516433   PMID:22589738   PMID:22708402   PMID:22923205   PMID:23012398  
PMID:23154483   PMID:23306200   PMID:23344859   PMID:23376485   PMID:23447832   PMID:23505556   PMID:23533145   PMID:23640881   PMID:23781119   PMID:23786280   PMID:23812204   PMID:23861484  
PMID:23925487   PMID:24072069   PMID:24118451   PMID:24256706   PMID:24282481   PMID:24311705   PMID:24366863   PMID:24533165   PMID:24667918   PMID:24676332   PMID:24799124   PMID:24988611  
PMID:25265377   PMID:25281560   PMID:25311416   PMID:25398823   PMID:25463281   PMID:25490030   PMID:25595436   PMID:25661792   PMID:25758665   PMID:25843655   PMID:26186194   PMID:26537957  
PMID:26836154   PMID:27083758   PMID:27109647   PMID:27235174   PMID:27416276   PMID:27903408   PMID:27920479   PMID:27982432   PMID:28091899   PMID:28167245   PMID:28397206   PMID:28423673  
PMID:28427851   PMID:28514442   PMID:28678687   PMID:28718761   PMID:29079528   PMID:29127684   PMID:29540532   PMID:29572010   PMID:29774528   PMID:30209774   PMID:30243884   PMID:30359420  
PMID:30575818   PMID:30803124   PMID:30955187   PMID:31203609   PMID:31442954   PMID:31980649  


Genomics

Comparative Map Data
CP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl3149,162,410 - 149,221,829 (-)EnsemblGRCh38hg38GRCh38
GRCh383149,162,410 - 149,222,008 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh373148,880,201 - 148,939,616 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363150,373,220 - 150,422,519 (-)NCBINCBI36hg18NCBI36
Build 343150,374,073 - 150,422,277NCBI
Celera3147,300,808 - 147,350,343 (-)NCBI
Cytogenetic Map3q24-q25.1NCBI
HuRef3146,251,480 - 146,311,114 (-)NCBIHuRef
CHM1_13148,843,270 - 148,902,904 (-)NCBICHM1_1
Cp
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39320,011,097 - 20,063,914 (+)NCBIGRCm39mm39
GRCm39 Ensembl320,011,218 - 20,063,309 (+)Ensembl
GRCm38319,956,933 - 20,009,750 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl319,957,054 - 20,009,145 (+)EnsemblGRCm38mm10GRCm38
MGSCv37319,857,054 - 19,907,609 (+)NCBIGRCm37mm9NCBIm37
MGSCv36320,149,330 - 20,184,741 (+)NCBImm8
Celera319,946,245 - 19,996,873 (+)NCBICelera
Cytogenetic Map3A2NCBI
Cp
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22102,439,433 - 102,498,075 (+)NCBI
Rnor_6.0 Ensembl2104,744,461 - 104,799,853 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.02104,744,249 - 104,803,034 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.02124,467,383 - 124,524,140 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42105,086,278 - 105,135,367 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.12105,031,239 - 105,080,329 (+)NCBI
Celera297,809,748 - 97,868,604 (+)NCBICelera
Cytogenetic Map2q24NCBI
Cp
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955448473,179 - 523,100 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955448470,063 - 522,909 (-)NCBIChiLan1.0ChiLan1.0
CP
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.13153,768,362 - 153,817,591 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3153,764,830 - 153,817,544 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v03146,180,527 - 146,239,833 (-)NCBIMhudiblu_PPA_v0panPan3
CP
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl2343,969,435 - 44,030,369 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.12343,969,297 - 44,033,226 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Cp
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049365196,431,156 - 6,473,183 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CP
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1389,396,685 - 89,463,538 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11389,396,713 - 89,463,540 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21397,390,612 - 97,455,765 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Pig Cytomap13q32-q33NCBI
Cp
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473026,458,554 - 26,510,796 (-)NCBI

Position Markers
GDB:181199  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373148,894,090 - 148,894,405UniSTSGRCh37
Build 363150,376,780 - 150,377,095RGDNCBI36
Celera3147,304,612 - 147,304,927RGD
Cytogenetic Map3q23-q25UniSTS
HuRef3146,265,381 - 146,265,696UniSTS
GDB:624419  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373148,939,434 - 148,939,579UniSTSGRCh37
Build 363150,422,124 - 150,422,269RGDNCBI36
Celera3147,349,945 - 147,350,090RGD
Cytogenetic Map3q23-q25UniSTS
HuRef3146,310,716 - 146,310,861UniSTS
GDB:624422  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373148,930,238 - 148,930,485UniSTSGRCh37
Build 363150,412,928 - 150,413,175RGDNCBI36
Celera3147,340,752 - 147,340,999RGD
Cytogenetic Map3q23-q25UniSTS
HuRef3146,301,525 - 146,301,772UniSTS
GDB:624426  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373148,927,954 - 148,928,166UniSTSGRCh37
Build 363150,410,644 - 150,410,856RGDNCBI36
Celera3147,338,468 - 147,338,680RGD
Cytogenetic Map3q23-q25UniSTS
HuRef3146,299,241 - 146,299,453UniSTS
GDB:624429  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373148,926,998 - 148,927,171UniSTSGRCh37
Build 363150,409,688 - 150,409,861RGDNCBI36
Celera3147,337,512 - 147,337,685RGD
Cytogenetic Map3q23-q25UniSTS
HuRef3146,298,285 - 146,298,458UniSTS
GDB:624432  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373148,925,150 - 148,925,404UniSTSGRCh37
Build 363150,407,840 - 150,408,094RGDNCBI36
Celera3147,335,664 - 147,335,918RGD
Cytogenetic Map3q23-q25UniSTS
HuRef3146,296,437 - 146,296,691UniSTS
GDB:624435  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373148,923,955 - 148,924,126UniSTSGRCh37
Build 363150,406,645 - 150,406,816RGDNCBI36
Celera3147,334,469 - 147,334,640RGD
Cytogenetic Map3q23-q25UniSTS
HuRef3146,295,242 - 146,295,413UniSTS
GDB:624438  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373148,919,889 - 148,920,028UniSTSGRCh37
Build 363150,402,579 - 150,402,718RGDNCBI36
Celera3147,330,403 - 147,330,542RGD
Cytogenetic Map3q23-q25UniSTS
HuRef3146,291,177 - 146,291,316UniSTS
GDB:624441  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373148,917,499 - 148,917,651UniSTSGRCh37
Build 363150,400,189 - 150,400,341RGDNCBI36
Celera3147,328,013 - 147,328,165RGD
Cytogenetic Map3q23-q25UniSTS
HuRef3146,288,783 - 146,288,935UniSTS
GDB:624444  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37892,169,511 - 92,169,722UniSTSGRCh37
GRCh373148,916,154 - 148,916,365UniSTSGRCh37
Build 363150,398,844 - 150,399,055RGDNCBI36
Celera888,363,825 - 88,364,036UniSTS
Celera3147,326,668 - 147,326,879RGD
Cytogenetic Map3q23-q25UniSTS
Cytogenetic Map8q21.3UniSTS
HuRef887,380,749 - 87,380,960UniSTS
HuRef3146,287,438 - 146,287,649UniSTS
GDB:624447  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37892,169,723 - 92,169,873UniSTSGRCh37
GRCh373148,905,839 - 148,905,989UniSTSGRCh37
Build 363150,388,529 - 150,388,679RGDNCBI36
Celera888,364,037 - 88,364,187UniSTS
Celera3147,316,361 - 147,316,511RGD
Cytogenetic Map3q23-q25UniSTS
Cytogenetic Map8q21.3UniSTS
HuRef887,380,961 - 87,381,112UniSTS
HuRef3146,277,135 - 146,277,285UniSTS
GDB:624449  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373148,904,307 - 148,904,519UniSTSGRCh37
Build 363150,386,997 - 150,387,209RGDNCBI36
Celera3147,314,829 - 147,315,041RGD
Cytogenetic Map3q23-q25UniSTS
HuRef3146,275,603 - 146,275,815UniSTS
GDB:624453  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37892,169,874 - 92,170,085UniSTSGRCh37
GRCh373148,903,026 - 148,903,233UniSTSGRCh37
Build 363150,385,716 - 150,385,923RGDNCBI36
Celera888,364,188 - 88,364,399UniSTS
Celera3147,313,548 - 147,313,755RGD
Cytogenetic Map3q23-q25UniSTS
Cytogenetic Map8q21.3UniSTS
HuRef887,381,113 - 87,381,324UniSTS
HuRef3146,274,322 - 146,274,529UniSTS
GDB:624457  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37892,170,086 - 92,170,225UniSTSGRCh37
GRCh373148,901,253 - 148,901,392UniSTSGRCh37
Build 363150,383,943 - 150,384,082RGDNCBI36
Celera888,364,400 - 88,364,539UniSTS
Celera3147,311,775 - 147,311,914RGD
Cytogenetic Map3q23-q25UniSTS
Cytogenetic Map8q21.3UniSTS
HuRef887,381,325 - 87,381,464UniSTS
HuRef3146,272,546 - 146,272,685UniSTS
GDB:624463  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37892,170,355 - 92,170,461UniSTSGRCh37
GRCh373148,897,343 - 148,897,449UniSTSGRCh37
Build 363150,380,033 - 150,380,139RGDNCBI36
Celera888,364,669 - 88,364,775UniSTS
Celera3147,307,865 - 147,307,971RGD
Cytogenetic Map3q23-q25UniSTS
Cytogenetic Map8q21.3UniSTS
HuRef887,381,594 - 87,381,700UniSTS
HuRef3146,268,634 - 146,268,740UniSTS
GDB:624469  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37892,170,679 - 92,170,801UniSTSGRCh37
GRCh373148,895,627 - 148,895,766UniSTSGRCh37
Build 363150,378,317 - 150,378,456RGDNCBI36
Celera888,364,993 - 88,365,115UniSTS
Celera3147,306,149 - 147,306,288RGD
Cytogenetic Map3q23-q25UniSTS
Cytogenetic Map8q21.3UniSTS
HuRef887,381,918 - 87,382,040UniSTS
HuRef3146,266,918 - 146,267,057UniSTS
GDB:624472  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37892,170,802 - 92,170,965UniSTSGRCh37
GRCh373148,894,037 - 148,894,199UniSTSGRCh37
Build 363150,376,727 - 150,376,889RGDNCBI36
Celera888,365,116 - 88,365,279UniSTS
Celera3147,304,559 - 147,304,721RGD
Cytogenetic Map3q23-q25UniSTS
Cytogenetic Map8q21.3UniSTS
HuRef887,382,041 - 87,382,203UniSTS
HuRef3146,265,328 - 146,265,490UniSTS
SHGC-84171  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373148,894,115 - 148,894,404UniSTSGRCh37
Build 363150,376,805 - 150,377,094RGDNCBI36
Celera3147,304,637 - 147,304,926RGD
Cytogenetic Map3q23-q25UniSTS
HuRef3146,265,406 - 146,265,695UniSTS
TNG Radiation Hybrid Map383909.0UniSTS
D3S3906  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37892,170,998 - 92,171,204UniSTSGRCh37
GRCh373148,891,278 - 148,891,484UniSTSGRCh37
Build 363150,373,968 - 150,374,174RGDNCBI36
Celera888,365,312 - 88,365,518UniSTS
Celera3147,301,800 - 147,302,006RGD
Cytogenetic Map3q23-q25UniSTS
Cytogenetic Map8q21.3UniSTS
Cytogenetic Map3q24UniSTS
HuRef887,382,237 - 87,382,443UniSTS
HuRef3146,262,569 - 146,262,775UniSTS
Whitehead-YAC Contig Map3 UniSTS
SHGC-77441  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373148,891,123 - 148,891,253UniSTSGRCh37
Build 363150,373,813 - 150,373,943RGDNCBI36
Celera3147,301,645 - 147,301,775RGD
Cytogenetic Map3q23-q25UniSTS
Cytogenetic Map3q24UniSTS
HuRef3146,262,414 - 146,262,544UniSTS
TNG Radiation Hybrid Map383905.0UniSTS
GeneMap99-GB4 RH Map3542.39UniSTS
SHGC-77445  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373148,890,575 - 148,890,682UniSTSGRCh37
Build 363150,373,265 - 150,373,372RGDNCBI36
Celera3147,301,097 - 147,301,204RGD
Cytogenetic Map3q23-q25UniSTS
Cytogenetic Map3q24UniSTS
HuRef3146,261,866 - 146,261,973UniSTS
TNG Radiation Hybrid Map383905.0UniSTS
GeneMap99-GB4 RH Map3542.39UniSTS
NCBI RH Map31246.5UniSTS
HPS3__6583  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373148,889,996 - 148,890,893UniSTSGRCh37
Build 363150,372,686 - 150,373,583RGDNCBI36
Celera3147,300,519 - 147,301,415RGD
HuRef3146,261,287 - 146,262,184UniSTS
GDB:624466  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3q23-q25UniSTS
GDB:624460  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3q23-q25UniSTS
HuRef3146,271,086 - 146,271,213UniSTS
CP-000F  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373148,916,296 - 148,917,655UniSTSGRCh37
Celera3147,326,810 - 147,328,169UniSTS
HuRef3146,287,580 - 146,288,939UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1752
Count of miRNA genes:860
Interacting mature miRNAs:1001
Transcripts:ENST00000264613, ENST00000455472, ENST00000460674, ENST00000462336, ENST00000463556, ENST00000471356, ENST00000473296, ENST00000474204, ENST00000479771, ENST00000481169, ENST00000489736, ENST00000490639, ENST00000494544, ENST00000497797, ENST00000497902
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 visual system adipose tissue appendage entire extraembryonic component
High 26 26 26 4 21 1
Medium 467 1516 1021 545 364 409 2049 129 1166 128 267 753 136 578 1497
Low 1752 578 618 46 273 21 1851 1587 2197 171 862 688 29 1 624 1040 3
Below cutoff 151 851 49 3 935 5 426 438 349 88 280 85 7 2 251 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_046371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006713499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006713500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006713501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011512435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_427361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC093001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC131209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF132978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC061702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC070304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC094709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC142714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC146663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC146801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA391602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB321657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D00025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D45045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC334592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ314867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU567149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J05506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC160341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC167099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC269854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M13536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M13699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S77464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X04135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X04136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X04137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X04138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X69706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000264613   ⟹   ENSP00000264613
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3149,172,497 - 149,221,829 (-)Ensembl
RefSeq Acc Id: ENST00000455472   ⟹   ENSP00000426888
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3149,210,358 - 149,221,827 (-)Ensembl
RefSeq Acc Id: ENST00000460674
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3149,172,499 - 149,180,133 (-)Ensembl
RefSeq Acc Id: ENST00000462336
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3149,185,249 - 149,198,453 (-)Ensembl
RefSeq Acc Id: ENST00000463556
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3149,176,363 - 149,179,738 (-)Ensembl
RefSeq Acc Id: ENST00000471356
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3149,188,064 - 149,200,031 (-)Ensembl
RefSeq Acc Id: ENST00000473296
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3149,175,985 - 149,177,907 (-)Ensembl
RefSeq Acc Id: ENST00000474204
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3149,173,484 - 149,176,714 (-)Ensembl
RefSeq Acc Id: ENST00000479771   ⟹   ENSP00000420367
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3149,162,417 - 149,179,621 (-)Ensembl
RefSeq Acc Id: ENST00000481169   ⟹   ENSP00000418773
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3149,162,410 - 149,221,827 (-)Ensembl
RefSeq Acc Id: ENST00000489736
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3149,186,066 - 149,207,623 (-)Ensembl
RefSeq Acc Id: ENST00000490639
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3149,177,785 - 149,221,824 (-)Ensembl
RefSeq Acc Id: ENST00000494544   ⟹   ENSP00000420545
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3149,173,467 - 149,209,340 (-)Ensembl
RefSeq Acc Id: ENST00000497797
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3149,187,919 - 149,199,821 (-)Ensembl
RefSeq Acc Id: ENST00000497902
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3149,185,163 - 149,188,096 (-)Ensembl
RefSeq Acc Id: NM_000096   ⟹   NP_000087
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383149,172,497 - 149,221,829 (-)NCBI
GRCh373148,880,197 - 148,939,832 (-)NCBI
Build 363150,373,220 - 150,422,519 (-)NCBI Archive
HuRef3146,251,480 - 146,311,114 (-)NCBI
CHM1_13148,853,359 - 148,902,904 (-)NCBI
Sequence:
RefSeq Acc Id: NR_046371
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383149,162,414 - 149,221,829 (-)NCBI
HuRef3146,251,480 - 146,311,114 (-)NCBI
CHM1_13148,843,270 - 148,902,904 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006713499   ⟹   XP_006713562
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383149,162,410 - 149,222,008 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006713500   ⟹   XP_006713563
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383149,172,499 - 149,222,008 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006713501   ⟹   XP_006713564
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383149,175,668 - 149,222,008 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011512435   ⟹   XP_011510737
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383149,162,410 - 149,222,008 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017005734   ⟹   XP_016861223
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383149,175,668 - 149,222,008 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017005735   ⟹   XP_016861224
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383149,172,499 - 149,222,008 (-)NCBI
Sequence:
RefSeq Acc Id: XR_427361
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383149,162,410 - 149,222,008 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000087 (Get FASTA)   NCBI Sequence Viewer  
  XP_006713562 (Get FASTA)   NCBI Sequence Viewer  
  XP_006713563 (Get FASTA)   NCBI Sequence Viewer  
  XP_006713564 (Get FASTA)   NCBI Sequence Viewer  
  XP_011510737 (Get FASTA)   NCBI Sequence Viewer  
  XP_016861223 (Get FASTA)   NCBI Sequence Viewer  
  XP_016861224 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA51975 (Get FASTA)   NCBI Sequence Viewer  
  AAA51976 (Get FASTA)   NCBI Sequence Viewer  
  AAB33996 (Get FASTA)   NCBI Sequence Viewer  
  AAF02483 (Get FASTA)   NCBI Sequence Viewer  
  AAH70304 (Get FASTA)   NCBI Sequence Viewer  
  AAI42715 (Get FASTA)   NCBI Sequence Viewer  
  AAI46664 (Get FASTA)   NCBI Sequence Viewer  
  ABC40726 (Get FASTA)   NCBI Sequence Viewer  
  ACB21047 (Get FASTA)   NCBI Sequence Viewer  
  BAA00019 (Get FASTA)   NCBI Sequence Viewer  
  BAA08084 (Get FASTA)   NCBI Sequence Viewer  
  BAA08085 (Get FASTA)   NCBI Sequence Viewer  
  BAF83908 (Get FASTA)   NCBI Sequence Viewer  
  BAG53020 (Get FASTA)   NCBI Sequence Viewer  
  BAH12988 (Get FASTA)   NCBI Sequence Viewer  
  CAA27752 (Get FASTA)   NCBI Sequence Viewer  
  CAA27753 (Get FASTA)   NCBI Sequence Viewer  
  CAA27754 (Get FASTA)   NCBI Sequence Viewer  
  CAA27755 (Get FASTA)   NCBI Sequence Viewer  
  EAW78882 (Get FASTA)   NCBI Sequence Viewer  
  EAW78883 (Get FASTA)   NCBI Sequence Viewer  
  EAW78884 (Get FASTA)   NCBI Sequence Viewer  
  P00450 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_000087   ⟸   NM_000096
- Peptide Label: precursor
- Sequence:
RefSeq Acc Id: XP_006713562   ⟸   XM_006713499
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_006713563   ⟸   XM_006713500
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_006713564   ⟸   XM_006713501
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011510737   ⟸   XM_011512435
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016861224   ⟸   XM_017005735
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016861223   ⟸   XM_017005734
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: ENSP00000420367   ⟸   ENST00000479771
RefSeq Acc Id: ENSP00000420545   ⟸   ENST00000494544
RefSeq Acc Id: ENSP00000426888   ⟸   ENST00000455472
RefSeq Acc Id: ENSP00000418773   ⟸   ENST00000481169
RefSeq Acc Id: ENSP00000264613   ⟸   ENST00000264613
Protein Domains
F5/8 type A   Plastocyanin-like

Promoters
RGD ID:6865954
Promoter ID:EPDNEW_H6141
Type:initiation region
Name:CP_1
Description:ceruloplasmin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6142  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383149,221,824 - 149,221,884EPDNEW
RGD ID:6865956
Promoter ID:EPDNEW_H6142
Type:initiation region
Name:CP_2
Description:ceruloplasmin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6141  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383149,222,002 - 149,222,062EPDNEW
RGD ID:6800792
Promoter ID:HG_KWN:46436
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   NB4
Transcripts:OTTHUMT00000317513
Position:
Human AssemblyChrPosition (strand)Source
Build 363150,380,439 - 150,380,939 (-)MPROMDB
RGD ID:6800795
Promoter ID:HG_KWN:46437
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000317518
Position:
Human AssemblyChrPosition (strand)Source
Build 363150,400,191 - 150,400,691 (-)MPROMDB
RGD ID:6800794
Promoter ID:HG_KWN:46440
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:NM_000096,   OTTHUMT00000317514,   UC003EWZ.2
Position:
Human AssemblyChrPosition (strand)Source
Build 363150,422,071 - 150,422,571 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000096.4(CP):c.1123T>C (p.Tyr375His) single nucleotide variant Deficiency of ferroxidase [RCV000034955] Chr3:149206253 [GRCh38]
Chr3:148924040 [GRCh37]
Chr3:3q25.1
pathogenic
NM_000096.4(CP):c.1209-2A>G single nucleotide variant Deficiency of ferroxidase [RCV000034957] Chr3:149202243 [GRCh38]
Chr3:148920030 [GRCh37]
Chr3:3q25.1
pathogenic
NM_000096.3(CP):c.1209_1210dupTG (p.Asp404Valfs) duplication Deficiency of ferroxidase [RCV000034958] Chr3:149202239..149202240 [GRCh38]
Chr3:148920026..148920027 [GRCh37]
Chr3:3q25.1
pathogenic
NM_000096.4(CP):c.1257_1258del (p.Ser419_Tyr420insTer) deletion Deficiency of ferroxidase [RCV000034960] Chr3:149202192..149202193 [GRCh38]
Chr3:148919979..148919980 [GRCh37]
Chr3:3q25.1
pathogenic
NM_000096.4(CP):c.146+1G>A single nucleotide variant Deficiency of ferroxidase [RCV000034962] Chr3:149221646 [GRCh38]
Chr3:148939433 [GRCh37]
Chr3:3q25.1
pathogenic
NM_000096.4(CP):c.2185del (p.Leu729fs) deletion Deficiency of ferroxidase [RCV000034974] Chr3:149185339 [GRCh38]
Chr3:148903126 [GRCh37]
Chr3:3q24
pathogenic
NM_000096.4(CP):c.2482del (p.Ala828fs) deletion Deficiency of ferroxidase [RCV000034977] Chr3:149182077 [GRCh38]
Chr3:148899864 [GRCh37]
Chr3:3q24
pathogenic
NM_000096.4(CP):c.2554+1G>T single nucleotide variant Deficiency of ferroxidase [RCV000034979] Chr3:149182004 [GRCh38]
Chr3:148899791 [GRCh37]
Chr3:3q24
pathogenic
NM_000096.4(CP):c.2603del (p.Gly868fs) deletion Deficiency of ferroxidase [RCV000034980] Chr3:149179614 [GRCh38]
Chr3:148897401 [GRCh37]
Chr3:3q24
pathogenic
NM_000096.4(CP):c.2689_2690del (p.Leu897fs) deletion Deficiency of ferroxidase [RCV000034981] Chr3:149178603..149178604 [GRCh38]
Chr3:148896390..148896391 [GRCh37]
Chr3:3q24
pathogenic
NM_000096.4(CP):c.2879-1G>A single nucleotide variant Deficiency of ferroxidase [RCV000034982] Chr3:149177980 [GRCh38]
Chr3:148895767 [GRCh37]
Chr3:3q24
pathogenic
NM_000096.4(CP):c.395-1G>A single nucleotide variant Deficiency of ferroxidase [RCV000034995] Chr3:149210380 [GRCh38]
Chr3:148928167 [GRCh37]
Chr3:3q25.1
pathogenic
NM_000096.4(CP):c.607+1G>A single nucleotide variant Deficiency of ferroxidase [RCV000035000] Chr3:149210166 [GRCh38]
Chr3:148927953 [GRCh37]
Chr3:3q25.1
pathogenic
NM_000096.4(CP):c.2630G>A (p.Trp877Ter) single nucleotide variant Deficiency of ferroxidase [RCV000019120]|Hypoceruloplasminemia [RCV000019121]|not provided [RCV000760448] Chr3:149179587 [GRCh38]
Chr3:148897374 [GRCh37]
Chr3:3q24
pathogenic|affects
NM_000096.4(CP):c.1049C>A (p.Ala350Asp) single nucleotide variant Deficiency of ferroxidase [RCV000034876] Chr3:149206327 [GRCh38]
Chr3:148924114 [GRCh37]
Chr3:3q25.1
pathogenic
NM_000096.4(CP):c.229G>C (p.Asp77His) single nucleotide variant Deficiency of ferroxidase [RCV000034878] Chr3:149212616 [GRCh38]
Chr3:148930403 [GRCh37]
Chr3:3q25.1
pathogenic|uncertain significance
NM_000096.4(CP):c.650T>C (p.Phe217Ser) single nucleotide variant Deficiency of ferroxidase [RCV000034879] Chr3:149209342 [GRCh38]
Chr3:148927129 [GRCh37]
Chr3:3q25.1
pathogenic
NM_000096.4(CP):c.2675G>A (p.Gly892Glu) single nucleotide variant Deficiency of ferroxidase [RCV000034881] Chr3:149178618 [GRCh38]
Chr3:148896405 [GRCh37]
Chr3:3q24
pathogenic
NM_000096.4(CP):c.2684G>C (p.Gly895Ala) single nucleotide variant Deficiency of ferroxidase [RCV000034882]|not provided [RCV000419016]|not specified [RCV000334692] Chr3:149178609 [GRCh38]
Chr3:148896396 [GRCh37]
Chr3:3q24
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000096.4(CP):c.2962G>A (p.Gly988Ser) single nucleotide variant Deficiency of ferroxidase [RCV000034883] Chr3:149177896 [GRCh38]
Chr3:148895683 [GRCh37]
Chr3:3q24
pathogenic
NM_000096.4(CP):c.548T>C (p.Ile183Thr) single nucleotide variant Deficiency of ferroxidase [RCV000034884] Chr3:149210226 [GRCh38]
Chr3:148928013 [GRCh37]
Chr3:3q25.1
pathogenic
NM_000096.4(CP):c.82A>T (p.Ile28Phe) single nucleotide variant Deficiency of ferroxidase [RCV000034885] Chr3:149221711 [GRCh38]
Chr3:148939498 [GRCh37]
Chr3:3q25.1
pathogenic
NM_000096.4(CP):c.2953A>G (p.Met985Val) single nucleotide variant Deficiency of ferroxidase [RCV000034888] Chr3:149177905 [GRCh38]
Chr3:148895692 [GRCh37]
Chr3:3q24
pathogenic
NM_000096.4(CP):c.587C>G (p.Pro196Arg) single nucleotide variant Deficiency of ferroxidase [RCV000034946] Chr3:149210187 [GRCh38]
Chr3:148927974 [GRCh37]
Chr3:3q25.1
pathogenic
NM_000096.4(CP):c.493C>G (p.Gln165Glu) single nucleotide variant Deficiency of ferroxidase [RCV000034947] Chr3:149210281 [GRCh38]
Chr3:148928068 [GRCh37]
Chr3:3q25.1
pathogenic
NM_000096.4(CP):c.643C>T (p.Arg215Ter) single nucleotide variant Deficiency of ferroxidase [RCV000034949] Chr3:149209349 [GRCh38]
Chr3:148927136 [GRCh37]
Chr3:3q25.1
pathogenic
NM_000096.4(CP):c.2701C>T (p.Arg901Ter) single nucleotide variant Deficiency of ferroxidase [RCV000034951] Chr3:149178592 [GRCh38]
Chr3:148896379 [GRCh37]
Chr3:3q24
pathogenic
NM_000096.4(CP):c.848G>C (p.Trp283Ser) single nucleotide variant Deficiency of ferroxidase [RCV000034953] Chr3:149207551 [GRCh38]
Chr3:148925338 [GRCh37]
Chr3:3q25.1
pathogenic
NM_000096.4(CP):c.3019-1G>A single nucleotide variant Deficiency of ferroxidase [RCV000019114]|Hemosiderosis, systemic, due to aceruloplasminemia [RCV000019115] Chr3:149176413 [GRCh38]
Chr3:148894200 [GRCh37]
Chr3:3q24
pathogenic|affects
NM_000096.4(CP):c.2389del (p.Glu797fs) deletion Ceruloplasmin belfast [RCV000019117]|Deficiency of ferroxidase [RCV000019116] Chr3:149183502 [GRCh38]
Chr3:148901289 [GRCh37]
Chr3:3q24
pathogenic|affects
NM_000096.4(CP):c.1282_1286dup (p.Asp430fs) duplication Deficiency of ferroxidase [RCV000019118]|Hemosiderosis, systemic, due to aceruloplasminemia [RCV000019119] Chr3:149202163..149202164 [GRCh38]
Chr3:148919950..148919951 [GRCh37]
Chr3:3q25.1
pathogenic|affects
NM_000096.3(CP):c.606dupA (p.Asp203Argfs) duplication Deficiency of ferroxidase [RCV000019122]|Hemosiderosis, systemic, due to aceruloplasminemia [RCV000019123] Chr3:149210167..149210168 [GRCh38]
Chr3:148927954..148927955 [GRCh37]
Chr3:3q25.1
pathogenic|affects
NM_000096.4(CP):c.1874G>A (p.Gly625Glu) single nucleotide variant Deficiency of ferroxidase [RCV000034880] Chr3:149186723 [GRCh38]
Chr3:148904510 [GRCh37]
Chr3:3q24
pathogenic
NM_000096.4(CP):c.2131C>A (p.Gln711Lys) single nucleotide variant Deficiency of ferroxidase [RCV000034948] Chr3:149185393 [GRCh38]
Chr3:148903180 [GRCh37]
Chr3:3q24
pathogenic
NM_000096.4(CP):c.2158C>T (p.Arg720Trp) single nucleotide variant Deficiency of ferroxidase [RCV000034950]|not provided [RCV000441214] Chr3:149185366 [GRCh38]
Chr3:148903153 [GRCh37]
Chr3:3q24
pathogenic|uncertain significance
NM_000096.4(CP):c.1652C>T (p.Thr551Ile) single nucleotide variant Deficiency of ferroxidase [RCV000034952]|not specified [RCV000116816] Chr3:149198428 [GRCh38]
Chr3:148916215 [GRCh37]
Chr3:3q24
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_000096.4(CP):c.1865-1G>A single nucleotide variant Deficiency of ferroxidase [RCV000034966] Chr3:149186733 [GRCh38]
Chr3:148904520 [GRCh37]
Chr3:3q24
pathogenic
NM_000096.4(CP):c.1918del (p.Asp640fs) deletion Deficiency of ferroxidase [RCV000034968] Chr3:149186679 [GRCh38]
Chr3:148904466 [GRCh37]
Chr3:3q24
pathogenic
NM_000096.4(CP):c.2066del (p.Pro689fs) deletion Deficiency of ferroxidase [RCV000034970] Chr3:149186531 [GRCh38]
Chr3:148904318 [GRCh37]
Chr3:3q24
pathogenic
NM_000096.4(CP):c.2068del (p.Asp690fs) deletion Deficiency of ferroxidase [RCV000034971] Chr3:149186529 [GRCh38]
Chr3:148904316 [GRCh37]
Chr3:3q24
pathogenic
GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3 copy number gain See cases [RCV000051724] Chr3:147442566..178522531 [GRCh38]
Chr3:147160353..178240319 [GRCh37]
Chr3:148643043..179723013 [NCBI36]
Chr3:3q24-26.32
pathogenic
GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3 copy number gain See cases [RCV000051725] Chr3:147521892..198096565 [GRCh38]
Chr3:147239679..197823436 [GRCh37]
Chr3:148722369..199307833 [NCBI36]
Chr3:3q24-29
pathogenic
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|See cases [RCV000051723] Chr3:137126982..198110178 [GRCh38]
Chr3:136845824..197837049 [GRCh37]
Chr3:138328514..199321446 [NCBI36]
Chr3:3q22.3-29
pathogenic
NM_000096.3(CP):c.396G>A (p.Gly132=) single nucleotide variant Malignant melanoma [RCV000065875] Chr3:149210378 [GRCh38]
Chr3:148928165 [GRCh37]
Chr3:150410855 [NCBI36]
Chr3:3q25.1
not provided
NM_000096.3(CP):c.169C>T (p.Gln57Ter) single nucleotide variant Malignant melanoma [RCV000065876] Chr3:149212676 [GRCh38]
Chr3:148930463 [GRCh37]
Chr3:150413153 [NCBI36]
Chr3:3q25.1
not provided
NM_032383.5(HPS3):c.2888-1612G>A single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV000020066] Chr3:149170483 [GRCh38]
Chr3:148888270 [GRCh37]
Chr3:3q24
pathogenic
NM_032383.5(HPS3):c.2737_2738GA[1] (p.Glu913fs) microsatellite Hermansky-Pudlak syndrome 3 [RCV000661946] Chr3:149167180..149167183 [GRCh38]
Chr3:148884967..148884970 [GRCh37]
Chr3:3q24
likely pathogenic
NM_000096.4(CP):c.656T>A (p.Val219Glu) single nucleotide variant not provided [RCV000116824] Chr3:149209336 [GRCh38]
Chr3:148927123 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_032383.5(HPS3):c.2589+1G>C single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV000004875] Chr3:149163950 [GRCh38]
Chr3:148881737 [GRCh37]
Chr3:3q24
pathogenic
NM_000096.4(CP):c.2511dup (p.Gly838fs) duplication Deficiency of ferroxidase [RCV000034978] Chr3:149182047..149182048 [GRCh38]
Chr3:148899834..148899835 [GRCh37]
Chr3:3q24
pathogenic
NM_000096.4(CP):c.2917dup (p.Thr973fs) duplication Deficiency of ferroxidase [RCV000034983] Chr3:149177940..149177941 [GRCh38]
Chr3:148895727..148895728 [GRCh37]
Chr3:3q24
pathogenic
NM_032383.4(HPS3):c.2482-2A>G single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV000020914] Chr3:149163840 [GRCh38]
Chr3:148881627 [GRCh37]
Chr3:3q24
pathogenic
NM_000096.4(CP):c.1099C>T (p.Arg367Cys) single nucleotide variant Deficiency of ferroxidase [RCV000321771]|not specified [RCV000116815] Chr3:149206277 [GRCh38]
Chr3:148924064 [GRCh37]
Chr3:3q25.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_000096.4(CP):c.1950A>C (p.Gly650=) single nucleotide variant Deficiency of ferroxidase [RCV000323346]|not specified [RCV000116817] Chr3:149186647 [GRCh38]
Chr3:148904434 [GRCh37]
Chr3:3q24
benign|likely benign|conflicting interpretations of pathogenicity
NM_000096.4(CP):c.2378G>A (p.Arg793His) single nucleotide variant Deficiency of ferroxidase [RCV000531835]|not specified [RCV000116818] Chr3:149183513 [GRCh38]
Chr3:148901300 [GRCh37]
Chr3:3q24
benign|likely benign
NM_000096.4(CP):c.2793A>G (p.Leu931=) single nucleotide variant Deficiency of ferroxidase [RCV000615583]|not provided [RCV000116820] Chr3:149178500 [GRCh38]
Chr3:148896287 [GRCh37]
Chr3:3q24
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000096.4(CP):c.2991T>C (p.His997=) single nucleotide variant Deficiency of ferroxidase [RCV000280356]|Hermansky-Pudlak syndrome [RCV000284071]|not specified [RCV000116821] Chr3:149177867 [GRCh38]
Chr3:148895654 [GRCh37]
Chr3:3q24
benign|likely benign|conflicting interpretations of pathogenicity
NM_000096.4(CP):c.3182-4A>G single nucleotide variant Deficiency of ferroxidase [RCV000343452]|Hermansky-Pudlak syndrome [RCV000376274]|not specified [RCV000116822] Chr3:149173734 [GRCh38]
Chr3:148891521 [GRCh37]
Chr3:3q24
benign|likely benign
NM_000096.4(CP):c.322C>T (p.His108Tyr) single nucleotide variant Deficiency of ferroxidase [RCV001087501]|not provided [RCV000116823] Chr3:149212523 [GRCh38]
Chr3:148930310 [GRCh37]
Chr3:3q25.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000096.4(CP):c.2286-15G>T single nucleotide variant Deficiency of ferroxidase [RCV000317608]|not specified [RCV000174445] Chr3:149183620 [GRCh38]
Chr3:148901407 [GRCh37]
Chr3:3q24
benign|likely benign
NM_000096.4(CP):c.2662-12T>C single nucleotide variant Deficiency of ferroxidase [RCV000401732]|not specified [RCV000174988] Chr3:149178643 [GRCh38]
Chr3:148896430 [GRCh37]
Chr3:3q24
benign
NM_032383.5(HPS3):c.2482-2A>G single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV000004874] Chr3:149163840 [GRCh38]
Chr3:148881627 [GRCh37]
Chr3:3q24
pathogenic
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29
pathogenic
GRCh38/hg38 3q22.2-25.1(chr3:134257180-149729538)x1 copy number loss See cases [RCV000138135] Chr3:134257180..149729538 [GRCh38]
Chr3:133976022..149447325 [GRCh37]
Chr3:135458712..150930015 [NCBI36]
Chr3:3q22.2-25.1
pathogenic|likely benign
GRCh38/hg38 3q24-25.1(chr3:149137353-149419900)x1 copy number loss See cases [RCV000143309] Chr3:149137353..149419900 [GRCh38]
Chr3:148855140..149137687 [GRCh37]
Chr3:150337830..150620377 [NCBI36]
Chr3:3q24-25.1
uncertain significance
NM_032383.5(HPS3):c.2526C>T (p.His842=) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV000379483]|Hermansky-Pudlak syndrome [RCV001273477]|not specified [RCV000150817] Chr3:149163886 [GRCh38]
Chr3:148881673 [GRCh37]
Chr3:3q24
benign
GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4 copy number gain See cases [RCV000240256] Chr3:142995020..192997215 [GRCh37]
Chr3:3q24-29
pathogenic
NM_000096.4(CP):c.1632A>T (p.Glu544Asp) single nucleotide variant not specified [RCV000180465] Chr3:149198448 [GRCh38]
Chr3:148916235 [GRCh37]
Chr3:3q24
benign
NM_000096.4(CP):c.1217C>A (p.Ala406Glu) single nucleotide variant Deficiency of ferroxidase [RCV000260851] Chr3:149202233 [GRCh38]
Chr3:148920020 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_000096.4(CP):c.2286-15del deletion Deficiency of ferroxidase [RCV000262404] Chr3:149183620 [GRCh38]
Chr3:148901407 [GRCh37]
Chr3:3q24
benign
NM_000096.4(CP):c.*769G>A single nucleotide variant Deficiency of ferroxidase [RCV000354403]|Hermansky-Pudlak syndrome 3 [RCV000262365] Chr3:149172945 [GRCh38]
Chr3:148890732 [GRCh37]
Chr3:3q24
benign
NM_000096.3(CP):c.-165C>T single nucleotide variant Deficiency of ferroxidase [RCV000263936] Chr3:149221957 [GRCh38]
Chr3:148939744 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_000096.4(CP):c.1430C>T (p.Pro477Leu) single nucleotide variant Deficiency of ferroxidase [RCV000398768]|not specified [RCV000192950] Chr3:149199783 [GRCh38]
Chr3:148917570 [GRCh37]
Chr3:3q24
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000096.4(CP):c.2571C>T (p.Tyr857=) single nucleotide variant Deficiency of ferroxidase [RCV001085939]|not provided [RCV000725836]|not specified [RCV000193795] Chr3:149179646 [GRCh38]
Chr3:148897433 [GRCh37]
Chr3:3q24
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000096.4(CP):c.737T>G (p.Val246Gly) single nucleotide variant not specified [RCV000195196] Chr3:149209255 [GRCh38]
Chr3:148927042 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_000096.4(CP):c.2991T>G (p.His997Gln) single nucleotide variant Deficiency of ferroxidase [RCV000201933] Chr3:149177867 [GRCh38]
Chr3:148895654 [GRCh37]
Chr3:3q24
pathogenic
NM_000096.4(CP):c.*509A>C single nucleotide variant Deficiency of ferroxidase [RCV000269434]|Hermansky-Pudlak syndrome 3 [RCV000326802] Chr3:149173205 [GRCh38]
Chr3:148890992 [GRCh37]
Chr3:3q24
benign|uncertain significance
NM_032383.5(HPS3):c.*135T>C single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV000273647] Chr3:149172357 [GRCh38]
Chr3:148890144 [GRCh37]
Chr3:3q24
uncertain significance
NM_000096.4(CP):c.1774C>G (p.Leu592Val) single nucleotide variant Deficiency of ferroxidase [RCV000283117]|not provided [RCV001091205] Chr3:149188142 [GRCh38]
Chr3:148905929 [GRCh37]
Chr3:3q24
uncertain significance
NM_032383.5(HPS3):c.2887+19dup duplication Deficiency of ferroxidase [RCV000325027]|Hermansky-Pudlak syndrome [RCV000280447]|not specified [RCV000455632] Chr3:149167992..149167993 [GRCh38]
Chr3:148885779..148885780 [GRCh37]
Chr3:3q24
benign
NM_032383.5(HPS3):c.2796+50C>T single nucleotide variant not specified [RCV000251665] Chr3:149167290 [GRCh38]
Chr3:148885077 [GRCh37]
Chr3:3q24
benign
NM_000096.4(CP):c.2310G>A (p.Lys770=) single nucleotide variant Deficiency of ferroxidase [RCV000275460]|not provided [RCV001200275] Chr3:149183581 [GRCh38]
Chr3:148901368 [GRCh37]
Chr3:3q24
likely benign|uncertain significance
NM_000096.4(CP):c.944A>G (p.Asn315Ser) single nucleotide variant Deficiency of ferroxidase [RCV000271781] Chr3:149207455 [GRCh38]
Chr3:148925242 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_032383.5(HPS3):c.2658C>T (p.Asp886=) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV000268648] Chr3:149167102 [GRCh38]
Chr3:148884889 [GRCh37]
Chr3:3q24
uncertain significance
NM_000096.4(CP):c.1104G>C (p.Gly368=) single nucleotide variant Deficiency of ferroxidase [RCV000266714] Chr3:149206272 [GRCh38]
Chr3:148924059 [GRCh37]
Chr3:3q25.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000096.4(CP):c.347C>A (p.Pro116His) single nucleotide variant Deficiency of ferroxidase [RCV000299013] Chr3:149212498 [GRCh38]
Chr3:148930285 [GRCh37]
Chr3:3q25.1
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000096.4(CP):c.1380C>T (p.Thr460=) single nucleotide variant Deficiency of ferroxidase [RCV000313748] Chr3:149199833 [GRCh38]
Chr3:148917620 [GRCh37]
Chr3:3q24
uncertain significance
NM_000096.4(CP):c.151C>T (p.His51Tyr) single nucleotide variant Deficiency of ferroxidase [RCV000399331] Chr3:149212694 [GRCh38]
Chr3:148930481 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_000096.4(CP):c.1309A>G (p.Lys437Glu) single nucleotide variant Deficiency of ferroxidase [RCV000300903] Chr3:149202141 [GRCh38]
Chr3:148919928 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_000096.4(CP):c.*768T>C single nucleotide variant Deficiency of ferroxidase [RCV000301114]|Hermansky-Pudlak syndrome 3 [RCV000367596] Chr3:149172946 [GRCh38]
Chr3:148890733 [GRCh37]
Chr3:3q24
benign|likely benign
NM_000096.4(CP):c.164A>G (p.Tyr55Cys) single nucleotide variant Deficiency of ferroxidase [RCV000335235] Chr3:149212681 [GRCh38]
Chr3:148930468 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_000096.4(CP):c.1774C>T (p.Leu592Phe) single nucleotide variant Deficiency of ferroxidase [RCV000377973] Chr3:149188142 [GRCh38]
Chr3:148905929 [GRCh37]
Chr3:3q24
uncertain significance
NM_000096.4(CP):c.1348+9T>C single nucleotide variant Deficiency of ferroxidase [RCV000399737] Chr3:149202093 [GRCh38]
Chr3:148919880 [GRCh37]
Chr3:3q25.1
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000096.4(CP):c.2998G>A (p.Gly1000Ser) single nucleotide variant Deficiency of ferroxidase [RCV000399801] Chr3:149177860 [GRCh38]
Chr3:148895647 [GRCh37]
Chr3:3q24
uncertain significance
NM_032383.5(HPS3):c.2692C>T (p.Arg898Cys) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV000316729]|Hermansky-Pudlak syndrome [RCV001275850]|not provided [RCV000931988] Chr3:149167136 [GRCh38]
Chr3:148884923 [GRCh37]
Chr3:3q24
likely benign|uncertain significance
NM_000096.4(CP):c.1275T>C (p.Tyr425=) single nucleotide variant Deficiency of ferroxidase [RCV000355679] Chr3:149202175 [GRCh38]
Chr3:148919962 [GRCh37]
Chr3:3q25.1
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000096.4(CP):c.*912C>G single nucleotide variant Deficiency of ferroxidase [RCV000401454]|Hermansky-Pudlak syndrome 3 [RCV001150406] Chr3:149172802 [GRCh38]
Chr3:148890589 [GRCh37]
Chr3:3q24
uncertain significance
NM_000096.4(CP):c.*879A>C single nucleotide variant Deficiency of ferroxidase [RCV000303144]|Hermansky-Pudlak syndrome 3 [RCV000341677] Chr3:149172835 [GRCh38]
Chr3:148890622 [GRCh37]
Chr3:3q24
likely benign
NM_032383.5(HPS3):c.*96T>A single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV000337867] Chr3:149172318 [GRCh38]
Chr3:148890105 [GRCh37]
Chr3:3q24
uncertain significance
NM_000096.4(CP):c.2697T>C (p.Val899=) single nucleotide variant Deficiency of ferroxidase [RCV000337784] Chr3:149178596 [GRCh38]
Chr3:148896383 [GRCh37]
Chr3:3q24
uncertain significance
NM_000096.4(CP):c.2286-12T>G single nucleotide variant Deficiency of ferroxidase [RCV000357126] Chr3:149183617 [GRCh38]
Chr3:148901404 [GRCh37]
Chr3:3q24
benign|likely benign
NM_000096.4(CP):c.1575A>G (p.Val525=) single nucleotide variant Deficiency of ferroxidase [RCV000288978] Chr3:149198505 [GRCh38]
Chr3:148916292 [GRCh37]
Chr3:3q24
uncertain significance
NM_000096.4(CP):c.669G>C (p.Val223=) single nucleotide variant Deficiency of ferroxidase [RCV000338729] Chr3:149209323 [GRCh38]
Chr3:148927110 [GRCh37]
Chr3:3q25.1
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000096.4(CP):c.93G>A (p.Thr31=) single nucleotide variant Deficiency of ferroxidase [RCV000359730] Chr3:149221700 [GRCh38]
Chr3:148939487 [GRCh37]
Chr3:3q25.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000096.4(CP):c.921G>A (p.Lys307=) single nucleotide variant Deficiency of ferroxidase [RCV000381533] Chr3:149207478 [GRCh38]
Chr3:148925265 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_000096.4(CP):c.*1081T>A single nucleotide variant Deficiency of ferroxidase [RCV000289811]|Hermansky-Pudlak syndrome 3 [RCV000347124] Chr3:149172633 [GRCh38]
Chr3:148890420 [GRCh37]
Chr3:3q24
uncertain significance
NM_000096.4(CP):c.1191C>G (p.Asn397Lys) single nucleotide variant Deficiency of ferroxidase [RCV000361346] Chr3:149206185 [GRCh38]
Chr3:148923972 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_000096.4(CP):c.993T>C (p.Pro331=) single nucleotide variant Deficiency of ferroxidase [RCV000384909] Chr3:149207406 [GRCh38]
Chr3:148925193 [GRCh37]
Chr3:3q25.1
benign|likely benign
NM_000096.4(CP):c.2565C>T (p.Leu855=) single nucleotide variant Deficiency of ferroxidase [RCV000408055] Chr3:149179652 [GRCh38]
Chr3:148897439 [GRCh37]
Chr3:3q24
uncertain significance
NM_000096.4(CP):c.*373C>G single nucleotide variant Deficiency of ferroxidase [RCV000383962]|Hermansky-Pudlak syndrome 3 [RCV000292012] Chr3:149173341 [GRCh38]
Chr3:148891128 [GRCh37]
Chr3:3q24
uncertain significance
NM_000096.4(CP):c.701A>G (p.Asp234Gly) single nucleotide variant Deficiency of ferroxidase [RCV000292939] Chr3:149209291 [GRCh38]
Chr3:148927078 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_000096.4(CP):c.1493A>G (p.Gln498Arg) single nucleotide variant Deficiency of ferroxidase [RCV000344063]|not specified [RCV000500385] Chr3:149199720 [GRCh38]
Chr3:148917507 [GRCh37]
Chr3:3q24
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000096.4(CP):c.*1157C>T single nucleotide variant Deficiency of ferroxidase [RCV000344158]|Hermansky-Pudlak syndrome 3 [RCV000382361] Chr3:149172557 [GRCh38]
Chr3:148890344 [GRCh37]
Chr3:3q24
benign|likely benign
NM_000096.4(CP):c.2611G>A (p.Asp871Asn) single nucleotide variant Deficiency of ferroxidase [RCV000364282]|not provided [RCV000514945] Chr3:149179606 [GRCh38]
Chr3:148897393 [GRCh37]
Chr3:3q24
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000096.4(CP):c.782-14C>T single nucleotide variant Deficiency of ferroxidase [RCV000387220] Chr3:149207631 [GRCh38]
Chr3:148925418 [GRCh37]
Chr3:3q25.1
benign|likely benign
NM_000096.3(CP):c.-199C>G single nucleotide variant Deficiency of ferroxidase [RCV000365493] Chr3:149221991 [GRCh38]
Chr3:148939778 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_032383.5(HPS3):c.*97_*98CA[20] microsatellite Hermansky-Pudlak syndrome [RCV000294307] Chr3:149172318..149172319 [GRCh38]
Chr3:148890105..148890106 [GRCh37]
Chr3:3q24
uncertain significance
NM_000096.4(CP):c.2662-14T>C single nucleotide variant Deficiency of ferroxidase [RCV000309651] Chr3:149178645 [GRCh38]
Chr3:148896432 [GRCh37]
Chr3:3q24
uncertain significance
NM_000096.4(CP):c.938C>T (p.Thr313Ile) single nucleotide variant Deficiency of ferroxidase [RCV000326860] Chr3:149207461 [GRCh38]
Chr3:148925248 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_000096.4(CP):c.1713+3A>G single nucleotide variant Deficiency of ferroxidase [RCV000347499] Chr3:149198364 [GRCh38]
Chr3:148916151 [GRCh37]
Chr3:3q24
uncertain significance
NM_000096.4(CP):c.1349-13T>C single nucleotide variant Deficiency of ferroxidase [RCV000368502] Chr3:149199877 [GRCh38]
Chr3:148917664 [GRCh37]
Chr3:3q24
benign|likely benign
NM_000096.3(CP):c.-183T>C single nucleotide variant Deficiency of ferroxidase [RCV000310878] Chr3:149221975 [GRCh38]
Chr3:148939762 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_000096.4(CP):c.2554+14C>G single nucleotide variant Deficiency of ferroxidase [RCV000369976] Chr3:149181991 [GRCh38]
Chr3:148899778 [GRCh37]
Chr3:3q24
benign
NM_032383.4(HPS3):c.*668dupT duplication Hermansky-Pudlak syndrome [RCV000297153] Chr3:149172890 [GRCh38]
Chr3:148890677 [GRCh37]
Chr3:3q24
benign
NM_000096.4(CP):c.1209-15T>A single nucleotide variant Deficiency of ferroxidase [RCV000297226] Chr3:149202256 [GRCh38]
Chr3:148920043 [GRCh37]
Chr3:3q25.1
likely benign
NM_000096.4(CP):c.2286-14dup duplication Deficiency of ferroxidase [RCV000330375] Chr3:149183608..149183609 [GRCh38]
Chr3:148901395..148901396 [GRCh37]
Chr3:3q24
uncertain significance
NM_000096.4(CP):c.*572A>G single nucleotide variant Deficiency of ferroxidase [RCV001144325]|Hermansky-Pudlak syndrome 3 [RCV000370870] Chr3:149173142 [GRCh38]
Chr3:148890929 [GRCh37]
Chr3:3q24
uncertain significance
NM_032383.5(HPS3):c.*170C>T single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV000331125] Chr3:149172392 [GRCh38]
Chr3:148890179 [GRCh37]
Chr3:3q24
likely benign|uncertain significance
NM_000096.4(CP):c.788A>G (p.Asn263Ser) single nucleotide variant Deficiency of ferroxidase [RCV000351379] Chr3:149207611 [GRCh38]
Chr3:148925398 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_000096.4(CP):c.2266C>A (p.His756Asn) single nucleotide variant Deficiency of ferroxidase [RCV000371995] Chr3:149185258 [GRCh38]
Chr3:148903045 [GRCh37]
Chr3:3q24
uncertain significance
NM_032383.5(HPS3):c.2699G>A (p.Arg900His) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV000372632] Chr3:149167143 [GRCh38]
Chr3:148884930 [GRCh37]
Chr3:3q24
uncertain significance
NM_032383.5(HPS3):c.*96_*97TC[3] microsatellite Hermansky-Pudlak syndrome [RCV000265714] Chr3:149172317..149172318 [GRCh38]
Chr3:148890104..148890105 [GRCh37]
Chr3:3q24
uncertain significance
NM_000096.4(CP):c.2522C>G (p.Thr841Arg) single nucleotide variant Deficiency of ferroxidase [RCV000860799]|not provided [RCV001091204]|not specified [RCV000373153] Chr3:149182037 [GRCh38]
Chr3:148899824 [GRCh37]
Chr3:3q24
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_032383.5(HPS3):c.*97_*98CA[16] microsatellite Hermansky-Pudlak syndrome [RCV000259946] Chr3:149172319..149172324 [GRCh38]
Chr3:148890106..148890111 [GRCh37]
Chr3:3q24
uncertain significance
NM_032383.5(HPS3):c.*97_*98insTCTCACAC insertion Hermansky-Pudlak syndrome [RCV000304533] Chr3:149172318..149172319 [GRCh38]
Chr3:148890105..148890106 [GRCh37]
Chr3:3q24
uncertain significance
NM_032383.5(HPS3):c.*97_*98CA[23] microsatellite Hermansky-Pudlak syndrome [RCV000307149] Chr3:149172318..149172319 [GRCh38]
Chr3:148890105..148890106 [GRCh37]
Chr3:3q24
uncertain significance
NM_032383.5(HPS3):c.*97_*98insTCACACAC insertion Hermansky-Pudlak syndrome [RCV000310590] Chr3:149172318..149172319 [GRCh38]
Chr3:148890105..148890106 [GRCh37]
Chr3:3q24
uncertain significance
NM_032383.5(HPS3):c.*97_*98CA[25] microsatellite Hermansky-Pudlak syndrome [RCV000345566] Chr3:149172318..149172319 [GRCh38]
Chr3:148890105..148890106 [GRCh37]
Chr3:3q24
uncertain significance
NM_032383.5(HPS3):c.*97_*98CA[21] microsatellite Hermansky-Pudlak syndrome [RCV000351520] Chr3:149172318..149172319 [GRCh38]
Chr3:148890105..148890106 [GRCh37]
Chr3:3q24
uncertain significance
NM_000096.4(CP):c.*583T>C single nucleotide variant Deficiency of ferroxidase [RCV000275343]|Hermansky-Pudlak syndrome 3 [RCV001144324]|Hermansky-Pudlak syndrome [RCV000332532] Chr3:149173131 [GRCh38]
Chr3:148890918 [GRCh37]
Chr3:3q24
uncertain significance
NM_032383.5(HPS3):c.*97_*98insTCACACACAC insertion Hermansky-Pudlak syndrome [RCV000358312] Chr3:149172318..149172319 [GRCh38]
Chr3:148890105..148890106 [GRCh37]
Chr3:3q24
uncertain significance
NM_000096.4(CP):c.2554+17G>A single nucleotide variant not specified [RCV000391762] Chr3:149181988 [GRCh38]
Chr3:148899775 [GRCh37]
Chr3:3q24
benign
NM_032383.5(HPS3):c.*96_*97insATCACA insertion Hermansky-Pudlak syndrome [RCV000385414] Chr3:149172318..149172319 [GRCh38]
Chr3:148890105..148890106 [GRCh37]
Chr3:3q24
uncertain significance
NM_032383.5(HPS3):c.*97_*98insTCACAC insertion Hermansky-Pudlak syndrome [RCV000391185] Chr3:149172318..149172319 [GRCh38]
Chr3:148890105..148890106 [GRCh37]
Chr3:3q24
uncertain significance
NM_032383.5(HPS3):c.*97_*98CA[22] microsatellite Hermansky-Pudlak syndrome [RCV000398719] Chr3:149172318..149172319 [GRCh38]
Chr3:148890105..148890106 [GRCh37]
Chr3:3q24
uncertain significance
NM_000096.4(CP):c.*828dup duplication Deficiency of ferroxidase [RCV000399438]|Hermansky-Pudlak syndrome [RCV000297153] Chr3:149172885..149172886 [GRCh38]
Chr3:148890672..148890673 [GRCh37]
Chr3:3q24
benign
NM_000096.4(CP):c.607+6T>A single nucleotide variant not provided [RCV000294660] Chr3:149210161 [GRCh38]
Chr3:148927948 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_000096.4(CP):c.1350T>C (p.Gly450=) single nucleotide variant not provided [RCV000262566] Chr3:149199863 [GRCh38]
Chr3:148917650 [GRCh37]
Chr3:3q24
uncertain significance
NM_000096.4(CP):c.607+1del deletion not provided [RCV000489374] Chr3:149210166 [GRCh38]
Chr3:148927953 [GRCh37]
Chr3:3q25.1
likely pathogenic
NM_032383.5(HPS3):c.2459C>G (p.Pro820Arg) single nucleotide variant Hermansky-Pudlak syndrome [RCV001279656] Chr3:149162856 [GRCh38]
Chr3:148880643 [GRCh37]
Chr3:3q24
uncertain significance
NM_032383.5(HPS3):c.*97_*98CA[17] microsatellite Hermansky-Pudlak syndrome [RCV000361606] Chr3:149172319..149172322 [GRCh38]
Chr3:148890106..148890109 [GRCh37]
Chr3:3q24
uncertain significance
NM_000096.4(CP):c.2557G>A (p.Glu853Lys) single nucleotide variant Deficiency of ferroxidase [RCV000315394] Chr3:149179660 [GRCh38]
Chr3:148897447 [GRCh37]
Chr3:3q24
uncertain significance
NG_011800.2:g.59053dupA duplication Deficiency of ferroxidase [RCV000325027] Chr3:149167993 [GRCh38]
Chr3:148885780 [GRCh37]
Chr3:3q24
benign
NM_000096.4(CP):c.125A>G (p.Lys42Arg) single nucleotide variant Deficiency of ferroxidase [RCV000304962] Chr3:149221668 [GRCh38]
Chr3:148939455 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_032383.5(HPS3):c.*129_*130insGC insertion Hermansky-Pudlak syndrome [RCV000318321] Chr3:149172350..149172351 [GRCh38]
Chr3:148890137..148890138 [GRCh37]
Chr3:3q24
uncertain significance
NM_032383.5(HPS3):c.*239G>A single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV000296110] Chr3:149172461 [GRCh38]
Chr3:148890248 [GRCh37]
Chr3:3q24
uncertain significance
NM_000096.4(CP):c.850T>C (p.Tyr284His) single nucleotide variant Deficiency of ferroxidase [RCV000296530] Chr3:149207549 [GRCh38]
Chr3:148925336 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_000096.4(CP):c.*343A>G single nucleotide variant Deficiency of ferroxidase [RCV000321137]|Hermansky-Pudlak syndrome 3 [RCV000378160] Chr3:149173371 [GRCh38]
Chr3:148891158 [GRCh37]
Chr3:3q24
uncertain significance
NM_032383.5(HPS3):c.*128A>G single nucleotide variant Deficiency of ferroxidase [RCV000381911]|Hermansky-Pudlak syndrome 3 [RCV000375265] Chr3:149172350 [GRCh38]
Chr3:148890137 [GRCh37]
Chr3:3q24
benign|likely benign
NM_000096.4(CP):c.508G>A (p.Gly170Arg) single nucleotide variant Deficiency of ferroxidase [RCV000390514] Chr3:149210266 [GRCh38]
Chr3:148928053 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_000096.4(CP):c.2180T>C (p.Phe727Ser) single nucleotide variant Deficiency of ferroxidase [RCV000287060] Chr3:149185344 [GRCh38]
Chr3:148903131 [GRCh37]
Chr3:3q24
uncertain significance
NM_000096.4(CP):c.*137C>T single nucleotide variant Deficiency of ferroxidase [RCV000286206]|Hermansky-Pudlak syndrome [RCV000328470] Chr3:149173577 [GRCh38]
Chr3:148891364 [GRCh37]
Chr3:3q24
likely benign
NM_032383.5(HPS3):c.*172G>A single nucleotide variant Deficiency of ferroxidase [RCV000289809]|Hermansky-Pudlak syndrome 3 [RCV000388146] Chr3:149172394 [GRCh38]
Chr3:148890181 [GRCh37]
Chr3:3q24
benign|likely benign
NM_000096.4(CP):c.1293C>T (p.Ala431=) single nucleotide variant Deficiency of ferroxidase [RCV000526742] Chr3:149202157 [GRCh38]
Chr3:148919944 [GRCh37]
Chr3:3q25.1
likely benign
NM_000096.4(CP):c.716A>T (p.Tyr239Phe) single nucleotide variant not provided [RCV000592806] Chr3:149209276 [GRCh38]
Chr3:148927063 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_000096.4(CP):c.566T>C (p.Ile189Thr) single nucleotide variant not provided [RCV000521860] Chr3:149210208 [GRCh38]
Chr3:148927995 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_000096.4(CP):c.1503_1504TG[3] (p.Pro503fs) microsatellite Deficiency of ferroxidase [RCV000638592] Chr3:149198573..149198574 [GRCh38]
Chr3:148916360..148916361 [GRCh37]
Chr3:3q24
pathogenic
NM_000096.4(CP):c.1632= (p.Glu544=) single nucleotide variant Deficiency of ferroxidase [RCV000530390] Chr3:149198448 [GRCh38]
Chr3:148916235 [GRCh37]
Chr3:3q24
benign
NM_000096.4(CP):c.928C>G (p.Arg310Gly) single nucleotide variant not provided [RCV000413149] Chr3:149207471 [GRCh38]
Chr3:148925258 [GRCh37]
Chr3:3q25.1
likely pathogenic
NM_000096.4(CP):c.147-2A>G single nucleotide variant not provided [RCV000414325] Chr3:149212700 [GRCh38]
Chr3:148930487 [GRCh37]
Chr3:3q25.1
pathogenic
GRCh37/hg19 3q24-25.2(chr3:148425748-153220169)x1 copy number loss See cases [RCV000447056] Chr3:148425748..153220169 [GRCh37]
Chr3:3q24-25.2
pathogenic
NM_000096.4(CP):c.1948G>A (p.Gly650Arg) single nucleotide variant Deficiency of ferroxidase [RCV000504529]|not provided [RCV000425954] Chr3:149186649 [GRCh38]
Chr3:148904436 [GRCh37]
Chr3:3q24
pathogenic|likely pathogenic
NM_000096.4(CP):c.1472A>G (p.Tyr491Cys) single nucleotide variant not provided [RCV000441167] Chr3:149199741 [GRCh38]
Chr3:148917528 [GRCh37]
Chr3:3q24
uncertain significance
GRCh37/hg19 3q24-26.2(chr3:147180945-168415875)x1 copy number loss See cases [RCV000448130] Chr3:147180945..168415875 [GRCh37]
Chr3:3q24-26.2
pathogenic
NM_000096.4(CP):c.1679G>T (p.Cys560Phe) single nucleotide variant Deficiency of ferroxidase [RCV000487430] Chr3:149198401 [GRCh38]
Chr3:148916188 [GRCh37]
Chr3:3q24
likely pathogenic
NM_000096.4(CP):c.1960G>A (p.Asp654Asn) single nucleotide variant not specified [RCV000503433] Chr3:149186637 [GRCh38]
Chr3:148904424 [GRCh37]
Chr3:3q24
uncertain significance
NM_000096.4(CP):c.2879-1G>T single nucleotide variant Deficiency of ferroxidase [RCV000496109] Chr3:149177980 [GRCh38]
Chr3:148895767 [GRCh37]
Chr3:3q24
likely pathogenic
NM_000096.4(CP):c.2756T>C (p.Leu919Pro) single nucleotide variant Deficiency of ferroxidase [RCV000496150] Chr3:149178537 [GRCh38]
Chr3:148896324 [GRCh37]
Chr3:3q24
likely pathogenic
NM_000096.4(CP):c.828T>C (p.Cys276=) single nucleotide variant not specified [RCV000502435] Chr3:149207571 [GRCh38]
Chr3:148925358 [GRCh37]
Chr3:3q25.1
likely benign
NM_000096.4(CP):c.1313A>G (p.Glu438Gly) single nucleotide variant Deficiency of ferroxidase [RCV000539040] Chr3:149202137 [GRCh38]
Chr3:148919924 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_000096.4(CP):c.2078-74_2241del deletion Deficiency of ferroxidase [RCV000584745] Chr3:149185283..149185520 [GRCh38]
Chr3:148903070..148903307 [GRCh37]
Chr3:3q24
pathogenic
NM_000096.4(CP):c.1208+1G>A single nucleotide variant Deficiency of ferroxidase [RCV000584747] Chr3:149206167 [GRCh38]
Chr3:148923954 [GRCh37]
Chr3:3q25.1
pathogenic
NM_000096.4(CP):c.1012T>A (p.Cys338Ser) single nucleotide variant Deficiency of ferroxidase [RCV000584748] Chr3:149207387 [GRCh38]
Chr3:148925174 [GRCh37]
Chr3:3q25.1
pathogenic
NM_000096.4(CP):c.1865-291_2077+352del deletion Deficiency of ferroxidase [RCV000584751] Chr3:149186168..149187023 [GRCh38]
Chr3:148903955..148904810 [GRCh37]
Chr3:3q24
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NM_000096.4(CP):c.583G>A (p.Gly195Arg) single nucleotide variant Deficiency of ferroxidase [RCV000809524]|Inborn genetic diseases [RCV000624072] Chr3:149210191 [GRCh38]
Chr3:148927978 [GRCh37]
Chr3:3q25.1
likely pathogenic|uncertain significance
NM_000096.4(CP):c.249T>C (p.Thr83=) single nucleotide variant Deficiency of ferroxidase [RCV000638594] Chr3:149212596 [GRCh38]
Chr3:148930383 [GRCh37]
Chr3:3q25.1
likely benign
NC_000003.12:g.(?_149206148)_(149206359_?)del deletion Deficiency of ferroxidase [RCV000638595] Chr3:149206148..149206359 [GRCh38]
Chr3:148923935..148924146 [GRCh37]
Chr3:3q25.1
pathogenic
NM_000096.4(CP):c.1680C>T (p.Cys560=) single nucleotide variant Deficiency of ferroxidase [RCV000638593] Chr3:149198400 [GRCh38]
Chr3:148916187 [GRCh37]
Chr3:3q24
likely benign
NM_000096.4(CP):c.389A>G (p.His130Arg) single nucleotide variant Deficiency of ferroxidase [RCV000698082] Chr3:149212456 [GRCh38]
Chr3:148930243 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_000096.4(CP):c.48del (p.Ala17fs) deletion not provided [RCV000658979] Chr3:149221745 [GRCh38]
Chr3:148939532 [GRCh37]
Chr3:3q25.1
likely pathogenic
NM_000096.4(CP):c.929G>A (p.Arg310His) single nucleotide variant Deficiency of ferroxidase [RCV001230054]|not provided [RCV000658110] Chr3:149207470 [GRCh38]
Chr3:148925257 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_000096.4(CP):c.394+45A>G single nucleotide variant not provided [RCV000658978] Chr3:149212406 [GRCh38]
Chr3:148930193 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_000096.4(CP):c.2702dup (p.Arg902fs) duplication Deficiency of ferroxidase [RCV000707198] Chr3:149178590..149178591 [GRCh38]
Chr3:148896377..148896378 [GRCh37]
Chr3:3q24
pathogenic
NM_000096.4(CP):c.407C>T (p.Pro136Leu) single nucleotide variant Deficiency of ferroxidase [RCV000689130] Chr3:149210367 [GRCh38]
Chr3:148928154 [GRCh37]
Chr3:3q25.1
uncertain significance
NC_000003.12:g.(?_149221627)_(149221812_?)del deletion Deficiency of ferroxidase [RCV000708362] Chr3:149221627..149221812 [GRCh38]
Chr3:148939414..148939599 [GRCh37]
Chr3:3q25.1
pathogenic
NM_000096.4(CP):c.2253G>A (p.Trp751Ter) single nucleotide variant Deficiency of ferroxidase [RCV000697053] Chr3:149185271 [GRCh38]
Chr3:148903058 [GRCh37]
Chr3:3q24
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NM_000096.4(CP):c.1131C>T (p.Ala377=) single nucleotide variant Deficiency of ferroxidase [RCV001146478] Chr3:149206245 [GRCh38]
Chr3:148924032 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_000096.4(CP):c.*1007T>A single nucleotide variant Deficiency of ferroxidase [RCV001148884]|Hermansky-Pudlak syndrome 3 [RCV001148885] Chr3:149172707 [GRCh38]
Chr3:148890494 [GRCh37]
Chr3:3q24
uncertain significance
NM_000096.4(CP):c.3185C>A (p.Thr1062Asn) single nucleotide variant Deficiency of ferroxidase [RCV001149017] Chr3:149173727 [GRCh38]
Chr3:148891514 [GRCh37]
Chr3:3q24
uncertain significance
NM_000096.4(CP):c.457G>A (p.Glu153Lys) single nucleotide variant Deficiency of ferroxidase [RCV000983871] Chr3:149210317 [GRCh38]
Chr3:148928104 [GRCh37]
Chr3:3q25.1
benign
NM_000096.4(CP):c.1945G>A (p.Ala649Thr) single nucleotide variant Deficiency of ferroxidase [RCV000945997] Chr3:149186652 [GRCh38]
Chr3:148904439 [GRCh37]
Chr3:3q24
likely benign
NM_000096.4(CP):c.1431G>A (p.Pro477=) single nucleotide variant not provided [RCV000972442] Chr3:149199782 [GRCh38]
Chr3:148917569 [GRCh37]
Chr3:3q24
likely benign
NM_000096.4(CP):c.2790C>T (p.Tyr930=) single nucleotide variant not provided [RCV000945574] Chr3:149178503 [GRCh38]
Chr3:148896290 [GRCh37]
Chr3:3q24
likely benign
NM_000096.4(CP):c.885C>T (p.His295=) single nucleotide variant not provided [RCV000900121] Chr3:149207514 [GRCh38]
Chr3:148925301 [GRCh37]
Chr3:3q25.1
likely benign
NM_032383.5(HPS3):c.2469A>G (p.Thr823=) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV001254016]|Hermansky-Pudlak syndrome [RCV001275848]|not provided [RCV000903117] Chr3:149162866 [GRCh38]
Chr3:148880653 [GRCh37]
Chr3:3q24
benign|likely benign
NM_000096.4(CP):c.3006C>T (p.Ser1002=) single nucleotide variant Deficiency of ferroxidase [RCV000945759] Chr3:149177852 [GRCh38]
Chr3:148895639 [GRCh37]
Chr3:3q24
benign|conflicting interpretations of pathogenicity
NM_000096.4(CP):c.2878+7C>A single nucleotide variant Deficiency of ferroxidase [RCV000878569] Chr3:149178408 [GRCh38]
Chr3:148896195 [GRCh37]
Chr3:3q24
likely benign
NM_000096.4(CP):c.484A>T (p.Thr162Ser) single nucleotide variant Deficiency of ferroxidase [RCV001053591] Chr3:149210290 [GRCh38]
Chr3:148928077 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_000096.4(CP):c.1864+1G>C single nucleotide variant Deficiency of ferroxidase [RCV000779391] Chr3:149188051 [GRCh38]
Chr3:148905838 [GRCh37]
Chr3:3q24
uncertain significance
NM_032383.5(HPS3):c.2316T>C (p.Asp772=) single nucleotide variant not provided [RCV000982008] Chr3:149162713 [GRCh38]
Chr3:148880500 [GRCh37]
Chr3:3q24
likely benign
NM_032383.5(HPS3):c.2916A>G (p.Leu972=) single nucleotide variant not provided [RCV000976225] Chr3:149172123 [GRCh38]
Chr3:148889910 [GRCh37]
Chr3:3q24
likely benign
NM_032383.5(HPS3):c.2634G>A (p.Pro878=) single nucleotide variant not provided [RCV000962059] Chr3:149167078 [GRCh38]
Chr3:148884865 [GRCh37]
Chr3:3q24
likely benign
NM_000096.4(CP):c.2997C>T (p.His999=) single nucleotide variant Deficiency of ferroxidase [RCV000945502] Chr3:149177861 [GRCh38]
Chr3:148895648 [GRCh37]
Chr3:3q24
benign|likely benign
NM_000096.4(CP):c.261G>A (p.Pro87=) single nucleotide variant not provided [RCV000895328] Chr3:149212584 [GRCh38]
Chr3:148930371 [GRCh37]
Chr3:3q25.1
likely benign
NM_000096.4(CP):c.2525A>G (p.Glu842Gly) single nucleotide variant Deficiency of ferroxidase [RCV000878191] Chr3:149182034 [GRCh38]
Chr3:148899821 [GRCh37]
Chr3:3q24
benign
NM_032383.5(HPS3):c.2479C>T (p.Leu827=) single nucleotide variant Hermansky-Pudlak syndrome [RCV001279657]|not provided [RCV000941187] Chr3:149162876 [GRCh38]
Chr3:148880663 [GRCh37]
Chr3:3q24
likely benign
NM_032383.5(HPS3):c.2378T>C (p.Val793Ala) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV001254015]|Hermansky-Pudlak syndrome [RCV001275847]|not provided [RCV000897174] Chr3:149162775 [GRCh38]
Chr3:148880562 [GRCh37]
Chr3:3q24
benign|likely benign|uncertain significance
NM_000096.4(CP):c.1208+10A>C single nucleotide variant not provided [RCV000929116] Chr3:149206158 [GRCh38]
Chr3:148923945 [GRCh37]
Chr3:3q25.1
likely benign
NM_032383.5(HPS3):c.2463dup (p.Arg822fs) duplication Hermansky-Pudlak syndrome [RCV000852087] Chr3:149162859..149162860 [GRCh38]
Chr3:148880646..148880647 [GRCh37]
Chr3:3q24
likely pathogenic
NM_000096.4(CP):c.1037-3C>A single nucleotide variant Deficiency of ferroxidase [RCV000814072] Chr3:149206342 [GRCh38]
Chr3:148924129 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_000096.4(CP):c.1900C>A (p.Leu634Ile) single nucleotide variant Deficiency of ferroxidase [RCV000815930] Chr3:149186697 [GRCh38]
Chr3:148904484 [GRCh37]
Chr3:3q24
uncertain significance
NM_000096.4(CP):c.2211A>T (p.Ala737=) single nucleotide variant not provided [RCV000915753] Chr3:149185313 [GRCh38]
Chr3:148903100 [GRCh37]
Chr3:3q24
likely benign
NM_000096.4(CP):c.2498C>G (p.Ser833Ter) single nucleotide variant Deficiency of ferroxidase [RCV000799580] Chr3:149182061 [GRCh38]
Chr3:148899848 [GRCh37]
Chr3:3q24
pathogenic
NM_000096.4(CP):c.1209-7C>T single nucleotide variant not provided [RCV000914267] Chr3:149202248 [GRCh38]
Chr3:148920035 [GRCh37]
Chr3:3q25.1
likely benign
NM_000096.4(CP):c.2263C>T (p.Leu755=) single nucleotide variant not provided [RCV000915515] Chr3:149185261 [GRCh38]
Chr3:148903048 [GRCh37]
Chr3:3q24
likely benign
NM_000096.4(CP):c.1414C>A (p.Pro472Thr) single nucleotide variant Deficiency of ferroxidase [RCV000798654] Chr3:149199799 [GRCh38]
Chr3:148917586 [GRCh37]
Chr3:3q24
uncertain significance
NM_000096.4(CP):c.1613del (p.Met538fs) deletion Deficiency of ferroxidase [RCV000801055] Chr3:149198467 [GRCh38]
Chr3:148916254 [GRCh37]
Chr3:3q24
pathogenic
NM_000096.4(CP):c.1100G>T (p.Arg367Leu) single nucleotide variant Deficiency of ferroxidase [RCV000812138] Chr3:149206276 [GRCh38]
Chr3:148924063 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_000096.4(CP):c.2446G>A (p.Val816Ile) single nucleotide variant Deficiency of ferroxidase [RCV000823661] Chr3:149182113 [GRCh38]
Chr3:148899900 [GRCh37]
Chr3:3q24
uncertain significance
NM_000096.4(CP):c.1265A>G (p.Lys422Arg) single nucleotide variant Deficiency of ferroxidase [RCV000821690] Chr3:149202185 [GRCh38]
Chr3:148919972 [GRCh37]
Chr3:3q25.1
uncertain significance
GRCh37/hg19 3q24-25.1(chr3:148855964-149227161)x3 copy number gain not provided [RCV000848620] Chr3:148855964..149227161 [GRCh37]
Chr3:3q24-25.1
uncertain significance
NM_000096.4(CP):c.1973T>C (p.Ile658Thr) single nucleotide variant Deficiency of ferroxidase [RCV001149142] Chr3:149186624 [GRCh38]
Chr3:148904411 [GRCh37]
Chr3:3q24
uncertain significance
NM_000096.4(CP):c.1907T>C (p.Met636Thr) single nucleotide variant Deficiency of ferroxidase [RCV001149143] Chr3:149186690 [GRCh38]
Chr3:148904477 [GRCh37]
Chr3:3q24
uncertain significance
NM_000096.4(CP):c.782-3C>T single nucleotide variant Deficiency of ferroxidase [RCV001149252] Chr3:149207620 [GRCh38]
Chr3:148925407 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_000096.4(CP):c.1939T>A (p.Phe647Ile) single nucleotide variant Deficiency of ferroxidase [RCV000807231] Chr3:149186658 [GRCh38]
Chr3:148904445 [GRCh37]
Chr3:3q24
uncertain significance
NM_000096.4(CP):c.2681T>C (p.Ile894Thr) single nucleotide variant Deficiency of ferroxidase [RCV000791615] Chr3:149178612 [GRCh38]
Chr3:148896399 [GRCh37]
Chr3:3q24
uncertain significance
NM_000096.4(CP):c.*474T>C single nucleotide variant Deficiency of ferroxidase [RCV001144328]|Hermansky-Pudlak syndrome 3 [RCV001146219] Chr3:149173240 [GRCh38]
Chr3:148891027 [GRCh37]
Chr3:3q24
benign
NM_000096.4(CP):c.199T>C (p.Tyr67His) single nucleotide variant Deficiency of ferroxidase [RCV001150753] Chr3:149212646 [GRCh38]
Chr3:148930433 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_000096.4(CP):c.1199C>A (p.Ala400Glu) single nucleotide variant Deficiency of ferroxidase [RCV001146477] Chr3:149206177 [GRCh38]
Chr3:148923964 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_000096.4(CP):c.936C>T (p.Asp312=) single nucleotide variant Deficiency of ferroxidase [RCV001149251] Chr3:149207463 [GRCh38]
Chr3:148925250 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_032383.5(HPS3):c.2364A>G (p.Ala788=) single nucleotide variant not provided [RCV000918715] Chr3:149162761 [GRCh38]
Chr3:148880548 [GRCh37]
Chr3:3q24
likely benign
NM_000096.4(CP):c.2973dup (p.Asp992fs) duplication not provided [RCV001091202] Chr3:149177884..149177885 [GRCh38]
Chr3:148895671..148895672 [GRCh37]
Chr3:3q24
likely pathogenic
NC_000003.12:g.(?_149173694)_(149182153_?)del deletion Deficiency of ferroxidase [RCV001032909] Chr3:148891481..148899940 [GRCh37]
Chr3:3q24
uncertain significance
NM_000096.4(CP):c.*373C>T single nucleotide variant Deficiency of ferroxidase [RCV001146220]|Hermansky-Pudlak syndrome 3 [RCV001146221] Chr3:149173341 [GRCh38]
Chr3:148891128 [GRCh37]
Chr3:3q24
uncertain significance
NM_000096.4(CP):c.2608G>A (p.Glu870Lys) single nucleotide variant not provided [RCV000998150] Chr3:149179609 [GRCh38]
Chr3:148897396 [GRCh37]
Chr3:3q24
uncertain significance
NM_000096.4(CP):c.1355T>C (p.Val452Ala) single nucleotide variant Deficiency of ferroxidase [RCV001065335] Chr3:149199858 [GRCh38]
Chr3:148917645 [GRCh37]
Chr3:3q24
uncertain significance
GRCh37/hg19 3q24-25.1(chr3:148855964-149130487)x1 copy number loss not provided [RCV000848485] Chr3:148855964..149130487 [GRCh37]
Chr3:3q24-25.1
uncertain significance
NM_032383.5(HPS3):c.2814dup (p.Leu939fs) duplication Hermansky-Pudlak syndrome [RCV000851759] Chr3:149167904..149167905 [GRCh38]
Chr3:148885691..148885692 [GRCh37]
Chr3:3q24
pathogenic
NM_032383.5(HPS3):c.2589+1G>T single nucleotide variant not provided [RCV001236486] Chr3:149163950 [GRCh38]
Chr3:148881737 [GRCh37]
Chr3:3q24
likely pathogenic
NM_000096.4(CP):c.2670C>G (p.Tyr890Ter) single nucleotide variant Deficiency of ferroxidase [RCV001224634] Chr3:149178623 [GRCh38]
Chr3:148896410 [GRCh37]
Chr3:3q24
pathogenic
NM_000096.4(CP):c.236C>T (p.Thr79Ile) single nucleotide variant Deficiency of ferroxidase [RCV001226420] Chr3:149212609 [GRCh38]
Chr3:148930396 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_000096.4(CP):c.1478C>T (p.Pro493Leu) single nucleotide variant Deficiency of ferroxidase [RCV001150646] Chr3:149199735 [GRCh38]
Chr3:148917522 [GRCh37]
Chr3:3q24
uncertain significance
NM_000096.4(CP):c.259C>T (p.Pro87Ser) single nucleotide variant Deficiency of ferroxidase [RCV001150752] Chr3:149212586 [GRCh38]
Chr3:148930373 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_000096.4(CP):c.*536G>C single nucleotide variant Deficiency of ferroxidase [RCV001144326]|Hermansky-Pudlak syndrome 3 [RCV001144327] Chr3:149173178 [GRCh38]
Chr3:148890965 [GRCh37]
Chr3:3q24
uncertain significance
NM_000096.4(CP):c.1379C>T (p.Thr460Ile) single nucleotide variant Deficiency of ferroxidase [RCV001144547] Chr3:149199834 [GRCh38]
Chr3:148917621 [GRCh37]
Chr3:3q24
uncertain significance
NM_032383.5(HPS3):c.*138A>T single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV001146094] Chr3:149172360 [GRCh38]
Chr3:148890147 [GRCh37]
Chr3:3q24
uncertain significance
NM_032383.5(HPS3):c.*207C>T single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV001146095] Chr3:149172429 [GRCh38]
Chr3:148890216 [GRCh37]
Chr3:3q24
uncertain significance
NM_000096.4(CP):c.3130G>A (p.Asp1044Asn) single nucleotide variant Deficiency of ferroxidase [RCV001149018] Chr3:149176301 [GRCh38]
Chr3:148894088 [GRCh37]
Chr3:3q24
uncertain significance
NM_000096.4(CP):c.2286-14_2286-13dup duplication not provided [RCV000955163] Chr3:149183608..149183609 [GRCh38]
Chr3:148901395..148901396 [GRCh37]
Chr3:3q24
benign
NM_032383.5(HPS3):c.2667C>T (p.Ala889=) single nucleotide variant Hermansky-Pudlak syndrome [RCV001275849]|not provided [RCV000931745] Chr3:149167111 [GRCh38]
Chr3:148884898 [GRCh37]
Chr3:3q24
likely benign|uncertain significance
NM_032383.5(HPS3):c.2598A>C (p.Ile866=) single nucleotide variant not provided [RCV000980350] Chr3:149167042 [GRCh38]
Chr3:148884829 [GRCh37]
Chr3:3q24
likely benign
NM_000096.4(CP):c.1944C>T (p.Ser648=) single nucleotide variant not provided [RCV000945550] Chr3:149186653 [GRCh38]
Chr3:148904440 [GRCh37]
Chr3:3q24
likely benign
NM_032383.5(HPS3):c.2887+19del deletion not provided [RCV000954901] Chr3:149167993 [GRCh38]
Chr3:148885780 [GRCh37]
Chr3:3q24
benign
NM_000096.4(CP):c.2482G>A (p.Ala828Thr) single nucleotide variant Deficiency of ferroxidase [RCV001244580] Chr3:149182077 [GRCh38]
Chr3:148899864 [GRCh37]
Chr3:3q24
uncertain significance
NM_032383.5(HPS3):c.2471C>A (p.Ser824Ter) single nucleotide variant not provided [RCV001247663] Chr3:149162868 [GRCh38]
Chr3:148880655 [GRCh37]
Chr3:3q24
pathogenic
NM_032383.5(HPS3):c.*98A>T single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV001146093] Chr3:149172320 [GRCh38]
Chr3:148890107 [GRCh37]
Chr3:3q24
uncertain significance
NM_000096.4(CP):c.2496C>T (p.Tyr832=) single nucleotide variant Deficiency of ferroxidase [RCV001146341] Chr3:149182063 [GRCh38]
Chr3:148899850 [GRCh37]
Chr3:3q24
uncertain significance
NM_000096.4(CP):c.1811C>A (p.Pro604His) single nucleotide variant Deficiency of ferroxidase [RCV001224141] Chr3:149188105 [GRCh38]
Chr3:148905892 [GRCh37]
Chr3:3q24
uncertain significance
NM_000096.4(CP):c.2224G>C (p.Glu742Gln) single nucleotide variant Deficiency of ferroxidase [RCV001206645] Chr3:149185300 [GRCh38]
Chr3:148903087 [GRCh37]
Chr3:3q24
uncertain significance
NM_032383.5(HPS3):c.2887+8G>T single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV001144198] Chr3:149167991 [GRCh38]
Chr3:148885778 [GRCh37]
Chr3:3q24
uncertain significance
NM_032383.5(HPS3):c.*95A>C single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV001144200] Chr3:149172317 [GRCh38]
Chr3:148890104 [GRCh37]
Chr3:3q24
uncertain significance
NM_000096.4(CP):c.2353C>T (p.Arg785Trp) single nucleotide variant Deficiency of ferroxidase [RCV001228107] Chr3:149183538 [GRCh38]
Chr3:148901325 [GRCh37]
Chr3:3q24
uncertain significance
NM_032383.5(HPS3):c.2527G>A (p.Val843Ile) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV001144197]|Hermansky-Pudlak syndrome [RCV001273478]|not provided [RCV000934277] Chr3:149163887 [GRCh38]
Chr3:148881674 [GRCh37]
Chr3:3q24
benign
NM_000096.4(CP):c.3024G>A (p.Arg1008=) single nucleotide variant not provided [RCV000890952] Chr3:149176407 [GRCh38]
Chr3:148894194 [GRCh37]
Chr3:3q24
likely benign
NM_000096.4(CP):c.1422T>C (p.Ser474=) single nucleotide variant not provided [RCV000889442] Chr3:149199791 [GRCh38]
Chr3:148917578 [GRCh37]
Chr3:3q24
likely benign
NC_000003.12:g.(?_149139994)_(149172232_?)del deletion not provided [RCV001032435] Chr3:148857781..148890019 [GRCh37]
Chr3:3q24
likely pathogenic
NM_000096.4(CP):c.2621G>A (p.Cys874Tyr) single nucleotide variant Deficiency of ferroxidase [RCV001144439] Chr3:149179596 [GRCh38]
Chr3:148897383 [GRCh37]
Chr3:3q24
uncertain significance
NM_000096.4(CP):c.2554+8C>T single nucleotide variant Deficiency of ferroxidase [RCV001144440] Chr3:149181997 [GRCh38]
Chr3:148899784 [GRCh37]
Chr3:3q24
uncertain significance
NM_000096.4(CP):c.1435G>A (p.Gly479Arg) single nucleotide variant Deficiency of ferroxidase [RCV001047539] Chr3:149199778 [GRCh38]
Chr3:148917565 [GRCh37]
Chr3:3q24
uncertain significance
NM_000096.4(CP):c.1819G>A (p.Val607Met) single nucleotide variant Deficiency of ferroxidase [RCV001069843] Chr3:149188097 [GRCh38]
Chr3:148905884 [GRCh37]
Chr3:3q24
uncertain significance
GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3 copy number gain See cases [RCV001194586] Chr3:138145289..162275610 [GRCh37]
Chr3:3q22.3-26.1
pathogenic
NM_000096.4(CP):c.2816C>G (p.Ser939Cys) single nucleotide variant Deficiency of ferroxidase [RCV001070179] Chr3:149178477 [GRCh38]
Chr3:148896264 [GRCh37]
Chr3:3q24
uncertain significance
NM_000096.4(CP):c.1357A>G (p.Ile453Val) single nucleotide variant Deficiency of ferroxidase [RCV001144548] Chr3:149199856 [GRCh38]
Chr3:148917643 [GRCh37]
Chr3:3q24
uncertain significance
NM_000096.4(CP):c.*40C>T single nucleotide variant Deficiency of ferroxidase [RCV001149016] Chr3:149173674 [GRCh38]
Chr3:148891461 [GRCh37]
Chr3:3q24
uncertain significance
NM_000096.4(CP):c.811C>T (p.Pro271Ser) single nucleotide variant Deficiency of ferroxidase [RCV001208606] Chr3:149207588 [GRCh38]
Chr3:148925375 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_000096.4(CP):c.*259C>T single nucleotide variant Deficiency of ferroxidase [RCV001146222]|Hermansky-Pudlak syndrome 3 [RCV001149015] Chr3:149173455 [GRCh38]
Chr3:148891242 [GRCh37]
Chr3:3q24
likely benign
NM_000096.4(CP):c.2268T>C (p.His756=) single nucleotide variant Deficiency of ferroxidase [RCV001146342] Chr3:149185256 [GRCh38]
Chr3:148903043 [GRCh37]
Chr3:3q24
uncertain significance
NM_000096.4(CP):c.2434C>A (p.Leu812Ile) single nucleotide variant Deficiency of ferroxidase [RCV001037671] Chr3:149182125 [GRCh38]
Chr3:148899912 [GRCh37]
Chr3:3q24
uncertain significance
NM_000096.4(CP):c.809T>C (p.Leu270Pro) single nucleotide variant Deficiency of ferroxidase [RCV001236392] Chr3:149207590 [GRCh38]
Chr3:148925377 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_000096.4(CP):c.863T>C (p.Met288Thr) single nucleotide variant Deficiency of ferroxidase [RCV001229642] Chr3:149207536 [GRCh38]
Chr3:148925323 [GRCh37]
Chr3:3q25.1
uncertain significance
GRCh37/hg19 3q24-25.1(chr3:144053029-150272658)x1 copy number loss not provided [RCV001005476] Chr3:144053029..150272658 [GRCh37]
Chr3:3q24-25.1
likely pathogenic
NM_000096.4(CP):c.597C>G (p.Ile199Met) single nucleotide variant Deficiency of ferroxidase [RCV001064428] Chr3:149210177 [GRCh38]
Chr3:148927964 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_000096.4(CP):c.2523_2524AG[2] (p.Ser843fs) microsatellite not provided [RCV001091203] Chr3:149182031..149182032 [GRCh38]
Chr3:148899818..148899819 [GRCh37]
Chr3:3q24
pathogenic
NM_000096.4(CP):c.2878+12T>G single nucleotide variant Deficiency of ferroxidase [RCV001150528] Chr3:149178403 [GRCh38]
Chr3:148896190 [GRCh37]
Chr3:3q24
benign
NM_032383.5(HPS3):c.2464C>T (p.Arg822Ter) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV001196934] Chr3:149162861 [GRCh38]
Chr3:148880648 [GRCh37]
Chr3:3q24
pathogenic
NM_000096.4(CP):c.119G>C (p.Gly40Ala) single nucleotide variant Deficiency of ferroxidase [RCV001042229] Chr3:149221674 [GRCh38]
Chr3:148939461 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_032383.5(HPS3):c.2936A>G (p.Asn979Ser) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV001144199] Chr3:149172143 [GRCh38]
Chr3:148889930 [GRCh37]
Chr3:3q24
uncertain significance
NM_032383.5(HPS3):c.2736del (p.Glu913fs) deletion not provided [RCV001268790] Chr3:149167180 [GRCh38]
Chr3:148884967 [GRCh37]
Chr3:3q24
pathogenic
NM_032383.5(HPS3):c.2524C>T (p.His842Tyr) single nucleotide variant Hermansky-Pudlak syndrome [RCV001279658] Chr3:149163884 [GRCh38]
Chr3:148881671 [GRCh37]
Chr3:3q24
uncertain significance
NM_032383.5(HPS3):c.2932A>G (p.Met978Val) single nucleotide variant Hermansky-Pudlak syndrome [RCV001279659] Chr3:149172139 [GRCh38]
Chr3:148889926 [GRCh37]
Chr3:3q24
uncertain significance
NM_032383.5(HPS3):c.2962A>G (p.Thr988Ala) single nucleotide variant Hermansky-Pudlak syndrome [RCV001280035] Chr3:149172169 [GRCh38]
Chr3:148889956 [GRCh37]
Chr3:3q24
uncertain significance
NM_032383.5(HPS3):c.2370C>G (p.Leu790=) single nucleotide variant Hermansky-Pudlak syndrome [RCV001279655] Chr3:149162767 [GRCh38]
Chr3:148880554 [GRCh37]
Chr3:3q24
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2295 AgrOrtholog
COSMIC CP COSMIC
Ensembl Genes ENSG00000047457 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000264613 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000418773 UniProtKB/TrEMBL
  ENSP00000420367 UniProtKB/TrEMBL
  ENSP00000420545 UniProtKB/TrEMBL
  ENSP00000426888 UniProtKB/TrEMBL
Ensembl Transcript ENST00000264613 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000455472 UniProtKB/TrEMBL
  ENST00000479771 UniProtKB/TrEMBL
  ENST00000481169 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000490639 ENTREZGENE
  ENST00000494544 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.420 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000047457 GTEx
HGNC ID HGNC:2295 ENTREZGENE
Human Proteome Map CP Human Proteome Map
InterPro Cu-oxidase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cu-oxidase_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cu-oxidase_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cu_oxidase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cu_oxidase_Cu_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cupredoxin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1356 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 1356 ENTREZGENE
OMIM 117700 OMIM
  604290 OMIM
Pfam Cu-oxidase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cu-oxidase_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cu-oxidase_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB CP RGD, PharmGKB
PROSITE MULTICOPPER_OXIDASE1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MULTICOPPER_OXIDASE2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49503 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A5PL27_HUMAN UniProtKB/TrEMBL
  CERU_HUMAN UniProtKB/Swiss-Prot
  D6RE86_HUMAN UniProtKB/TrEMBL
  E9PFZ2_HUMAN UniProtKB/TrEMBL
  H7C5N5_HUMAN UniProtKB/TrEMBL
  H7C5R1_HUMAN UniProtKB/TrEMBL
  P00450 ENTREZGENE
  Q6NSB2_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q14063 UniProtKB/Swiss-Prot
  Q2PP18 UniProtKB/Swiss-Prot
  Q9UKS4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-08-23 CP  ceruloplasmin    ceruloplasmin (ferroxidase)  Symbol and/or name change 5135510 APPROVED