NPR3 (natriuretic peptide receptor 3) - Rat Genome Database

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Gene: NPR3 (natriuretic peptide receptor 3) Homo sapiens
Analyze
Symbol: NPR3
Name: natriuretic peptide receptor 3
RGD ID: 731641
HGNC Page HGNC:7945
Description: Enables several functions, including chloride ion binding activity; natriuretic peptide receptor activity; and protein homodimerization activity. Predicted to be involved in several processes, including negative regulation of cold-induced thermogenesis; osteoclast proliferation; and positive regulation of nitric-oxide synthase activity. Located in extracellular exosome. Part of protein-containing complex. Implicated in hypertension.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ANP-C; ANPR-C; ANPRC; atrial natriuretic peptide clearance receptor; atrial natriuretic peptide receptor 3; atrial natriuretic peptide receptor type C; atrionatriuretic peptide receptor C; atrionatriuretic peptide receptor type C; BOMOS; C5orf23; chromosome 5 open reading frame 23; FLJ14054; guanylate cyclase C; GUCY2B; hypothetical protein LOC79614; MGC22189; natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C); NPR-C; NPRC
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38532,690,872 - 32,791,720 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl532,689,070 - 32,791,724 (+)EnsemblGRCh38hg38GRCh38
GRCh37532,690,978 - 32,791,826 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36532,747,422 - 32,823,013 (+)NCBINCBI36Build 36hg18NCBI36
Build 34532,747,421 - 32,823,009NCBI
Celera532,593,318 - 32,668,888 (+)NCBICelera
Cytogenetic Map5p13.3NCBI
HuRef532,678,571 - 32,759,879 (+)NCBIHuRef
CHM1_1532,712,833 - 32,793,931 (+)NCBICHM1_1
T2T-CHM13v2.0532,804,528 - 32,905,709 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1-dichloroethene  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
17beta-estradiol  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (ISO)
acetamide  (ISO)
acrolein  (EXP)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP,ISO)
alpha-Zearalanol  (ISO)
ammonium chloride  (ISO)
arsane  (ISO)
arsenic atom  (ISO)
arsenite(3-)  (EXP)
arsenous acid  (ISO)
atrazine  (ISO)
barium(0)  (EXP)
belinostat  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[b]fluoranthene  (ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol AF  (EXP)
bisphenol F  (ISO)
bromobenzene  (ISO)
C60 fullerene  (ISO)
cadmium dichloride  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
carvedilol  (ISO)
chlormequat chloride  (ISO)
chloroprene  (ISO)
chlorpyrifos  (ISO)
chromium atom  (EXP)
chrysene  (ISO)
cobalt atom  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) chloride  (EXP)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
DDE  (EXP)
dexamethasone  (ISO)
diarsenic trioxide  (ISO)
dichloroacetic acid  (ISO)
Didecyldimethylammonium  (EXP)
diethylstilbestrol  (ISO)
dimethylselenide  (EXP)
dioxygen  (EXP)
diquat  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
ethylparaben  (EXP)
flavonoids  (ISO)
flusilazole  (ISO)
folic acid  (EXP,ISO)
fonofos  (EXP)
FR900359  (EXP)
fulvestrant  (EXP)
furan  (ISO)
geldanamycin  (EXP)
genistein  (ISO)
gentamycin  (ISO)
Guanylin  (EXP)
icariin  (ISO)
ketoconazole  (ISO)
lead diacetate  (ISO)
lipopolysaccharide  (EXP,ISO)
methyl salicylate  (EXP)
methylisothiazolinone  (EXP)
N-ethyl-N-nitrosourea  (ISO)
nickel atom  (EXP)
nitrofen  (ISO)
ozone  (ISO)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
parathion  (EXP)
perfluorooctanoic acid  (ISO)
peroxynitrous acid  (ISO)
phenformin  (ISO)
phenobarbital  (EXP)
phenylmercury acetate  (EXP)
potassium atom  (EXP)
potassium bromate  (ISO)
potassium chromate  (EXP)
progesterone  (EXP)
quercetin  (EXP)
reactive oxygen species  (EXP)
rimonabant  (ISO)
rotenone  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
S-nitroso-N-acetyl-D-penicillamine  (ISO)
SB 431542  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
sotorasib  (EXP)
sulforaphane  (ISO)
sunitinib  (EXP)
terbufos  (EXP)
tetrachloromethane  (ISO)
tetraphene  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
trametinib  (EXP)
triadimefon  (EXP)
trichostatin A  (EXP)
troglitazone  (ISO)
valproic acid  (EXP,ISO)
vorinostat  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Natriuretic peptide receptor-C regulates coronary blood flow and prevents myocardial ischemia/reperfusion injury: novel cardioprotective role for endothelium-derived C-type natriuretic peptide. Hobbs A, etal., Circulation. 2004 Sep 7;110(10):1231-5. Epub 2004 Aug 30.
3. Three new allelic mouse mutations that cause skeletal overgrowth involve the natriuretic peptide receptor C gene (Npr3). Jaubert J, etal., Proc Natl Acad Sci U S A. 1999 Aug 31;96(18):10278-83.
4. Atrial natriuretic peptide-C receptor-induced attenuation of adenylyl cyclase signaling activates phosphatidylinositol turnover in A10 vascular smooth muscle cells. Mouawad R, etal., Mol Pharmacol. 2004 Apr;65(4):917-24.
5. Hypertension, cardiac hypertrophy, and sudden death in mice lacking natriuretic peptide receptor A. Oliver PM, etal., Proc Natl Acad Sci U S A 1997 Dec 23;94(26):14730-5.
6. Allelic variants of natriuretic peptide receptor genes are associated with family history of hypertension and cardiovascular phenotype. Pitzalis MV, etal., J Hypertens. 2003 Aug;21(8):1491-6.
7. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
9. Downregulation of the atrial natriuretic peptide/natriuretic peptide receptor-C system in the early stages of diabetic retinopathy in the rat. Rollin R, etal., Mol Vis. 2005 Mar 18;11:216-24.
10. Atrial natriuretic factor stimulates exocrine pancreatic secretion in the rat through NPR-C receptors. Sabbatini ME, etal., Am J Physiol Gastrointest Liver Physiol. 2003 Nov;285(5):G929-37. Epub 2003 Jun 26.
Additional References at PubMed
PMID:1309330   PMID:1660465   PMID:1672777   PMID:1979052   PMID:2162522   PMID:2169733   PMID:7727388   PMID:7901875   PMID:7996793   PMID:8620881   PMID:11181995   PMID:11256614  
PMID:11533490   PMID:11556325   PMID:12477932   PMID:12768436   PMID:14702039   PMID:15017020   PMID:15459247   PMID:15489334   PMID:15785005   PMID:15911071   PMID:15911072   PMID:16291870  
PMID:16870210   PMID:17081983   PMID:17192395   PMID:17890443   PMID:17951249   PMID:18633189   PMID:19086053   PMID:19326473   PMID:19343178   PMID:19352691   PMID:19458086   PMID:19570815  
PMID:20379614   PMID:20398908   PMID:20546612   PMID:20691218   PMID:20700369   PMID:20823417   PMID:20881960   PMID:21464461   PMID:21572416   PMID:21873635   PMID:21909110   PMID:21909115  
PMID:22001395   PMID:22116950   PMID:22307324   PMID:22421372   PMID:22559095   PMID:22995222   PMID:23376485   PMID:23493048   PMID:23533145   PMID:23563607   PMID:24465655   PMID:24667918  
PMID:24954895   PMID:25711724   PMID:25736855   PMID:26345810   PMID:26760575   PMID:26782497   PMID:27191271   PMID:28497617   PMID:28659173   PMID:29040610   PMID:29117863   PMID:29242602  
PMID:29409758   PMID:29523263   PMID:30021884   PMID:30591105   PMID:31234560   PMID:32251605   PMID:33545068   PMID:34229087   PMID:34668435   PMID:35696571   PMID:37101178   PMID:37543430  
PMID:37553374   PMID:39358380  


Genomics

Comparative Map Data
NPR3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38532,690,872 - 32,791,720 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl532,689,070 - 32,791,724 (+)EnsemblGRCh38hg38GRCh38
GRCh37532,690,978 - 32,791,826 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36532,747,422 - 32,823,013 (+)NCBINCBI36Build 36hg18NCBI36
Build 34532,747,421 - 32,823,009NCBI
Celera532,593,318 - 32,668,888 (+)NCBICelera
Cytogenetic Map5p13.3NCBI
HuRef532,678,571 - 32,759,879 (+)NCBIHuRef
CHM1_1532,712,833 - 32,793,931 (+)NCBICHM1_1
T2T-CHM13v2.0532,804,528 - 32,905,709 (+)NCBIT2T-CHM13v2.0
Npr3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391511,839,982 - 11,907,287 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1511,839,982 - 11,907,373 (-)EnsemblGRCm39 Ensembl
GRCm381511,839,896 - 11,907,837 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1511,839,896 - 11,907,287 (-)EnsemblGRCm38mm10GRCm38
MGSCv371511,769,651 - 11,835,429 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361511,784,621 - 11,850,399 (-)NCBIMGSCv36mm8
Celera1511,624,844 - 11,690,388 (-)NCBICelera
Cytogenetic Map15A1NCBI
cM Map155.83NCBI
Npr3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8262,592,557 - 62,660,497 (-)NCBIGRCr8
mRatBN7.2260,865,483 - 60,933,432 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl260,870,594 - 60,932,955 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx268,000,358 - 68,061,538 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0266,121,915 - 66,183,093 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0261,123,277 - 61,184,447 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0261,883,946 - 61,950,291 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl261,888,950 - 61,949,926 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0282,740,513 - 82,806,584 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4261,278,264 - 61,341,460 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1261,206,496 - 61,269,693 (-)NCBI
Celera257,760,666 - 57,821,249 (+)NCBICelera
Cytogenetic Map2q16NCBI
Npr3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542618,491,350 - 18,553,743 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495542618,491,350 - 18,559,299 (+)NCBIChiLan1.0ChiLan1.0
NPR3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2477,504,441 - 77,588,838 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1575,658,072 - 75,742,227 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0577,542,200 - 77,621,983 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1582,921,035 - 83,004,964 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl582,926,409 - 83,004,964 (-)Ensemblpanpan1.1panPan2
NPR3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1474,794,553 - 74,863,344 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl474,799,857 - 74,862,969 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha474,429,055 - 74,497,877 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0475,311,739 - 75,380,568 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl475,311,746 - 75,380,475 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1475,049,009 - 75,118,047 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0475,177,562 - 75,246,355 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0475,708,336 - 75,777,195 (-)NCBIUU_Cfam_GSD_1.0
Npr3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213223,211,508 - 223,281,564 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365188,093,561 - 8,158,868 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365188,093,111 - 8,158,862 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NPR3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1618,842,039 - 18,929,805 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11618,841,540 - 18,929,813 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
NPR3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1431,984,712 - 32,062,593 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl431,986,217 - 32,062,199 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607122,244,880 - 22,328,902 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Npr3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475921,829,336 - 21,904,405 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475921,826,271 - 21,904,928 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NPR3
227 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001204376.1(NPR3):c.411+16923A>G single nucleotide variant Lung cancer [RCV000095863] Chr5:32755953 [GRCh38]
Chr5:32756059 [GRCh37]
Chr5:5p13.3		 uncertain significance
GRCh38/hg38 5p15.33-13.2(chr5:54839-35680845)x3 copy number gain See cases [RCV000051811] Chr5:54839..35680845 [GRCh38]
Chr5:54954..35680947 [GRCh37]
Chr5:107954..35716704 [NCBI36]
Chr5:5p15.33-13.2		 pathogenic
GRCh38/hg38 5p14.1-q11.1(chr5:26593632-50288555)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051834]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051834]|See cases [RCV000051834] Chr5:26593632..50288555 [GRCh38]
Chr5:26593741..49584389 [GRCh37]
Chr5:26629498..49620146 [NCBI36]
Chr5:5p14.1-q11.1		 pathogenic
GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3 copy number gain See cases [RCV000051810] Chr5:54839..45649861 [GRCh38]
Chr5:54954..45649963 [GRCh37]
Chr5:107954..45685720 [NCBI36]
Chr5:5p15.33-12		 pathogenic
GRCh38/hg38 5p13.3-13.2(chr5:30149035-35213678)x1 copy number loss See cases [RCV000053449] Chr5:30149035..35213678 [GRCh38]
Chr5:30149142..35213780 [GRCh37]
Chr5:30184899..35249537 [NCBI36]
Chr5:5p13.3-13.2		 pathogenic
GRCh38/hg38 5p15.33-13.3(chr5:22149-33418188)x3 copy number gain See cases [RCV000133788] Chr5:22149..33418188 [GRCh38]
Chr5:22149..33418294 [GRCh37]
Chr5:75149..33454051 [NCBI36]
Chr5:5p15.33-13.3		 pathogenic
GRCh38/hg38 5p13.3-13.2(chr5:30961310-36143306)x1 copy number loss See cases [RCV000135667] Chr5:30961310..36143306 [GRCh38]
Chr5:30961417..36143408 [GRCh37]
Chr5:30997174..36179165 [NCBI36]
Chr5:5p13.3-13.2		 likely pathogenic
GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3 copy number gain See cases [RCV000135453] Chr5:49978..46114984 [GRCh38]
Chr5:50093..46115086 [GRCh37]
Chr5:103093..46150843 [NCBI36]
Chr5:5p15.33-11		 pathogenic
GRCh38/hg38 5p15.33-13.2(chr5:22149-35831538)x1 copy number loss See cases [RCV000138888] Chr5:22149..35831538 [GRCh38]
Chr5:22149..35831640 [GRCh37]
Chr5:75149..35867397 [NCBI36]
Chr5:5p15.33-13.2		 pathogenic
GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3 copy number gain See cases [RCV000138780] Chr5:22149..74412725 [GRCh38]
Chr5:22149..73708550 [GRCh37]
Chr5:75149..73744306 [NCBI36]
Chr5:5p15.33-q13.3		 pathogenic
GRCh38/hg38 5p15.32-13.2(chr5:4849498-36818719)x3 copy number gain See cases [RCV000141246] Chr5:4849498..36818719 [GRCh38]
Chr5:4849611..36818821 [GRCh37]
Chr5:4902611..36854578 [NCBI36]
Chr5:5p15.32-13.2		 pathogenic
GRCh38/hg38 5p15.33-13.2(chr5:113461-33998289)x1 copy number loss See cases [RCV000141844] Chr5:113461..33998289 [GRCh38]
Chr5:113576..33998394 [GRCh37]
Chr5:166576..34034151 [NCBI36]
Chr5:5p15.33-13.2		 pathogenic
GRCh37/hg19 5p15.2-12(chr5:13461664-46098927)x3 copy number gain See cases [RCV000239779] Chr5:13461664..46098927 [GRCh37]
Chr5:5p15.2-12		 pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:113576-33493797)x1 copy number loss See cases [RCV000449075] Chr5:113576..33493797 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
GRCh37/hg19 5p15.33-13.2(chr5:22149-34041255)x3 copy number gain See cases [RCV000240016] Chr5:22149..34041255 [GRCh37]
Chr5:5p15.33-13.2		 pathogenic
GRCh37/hg19 5p15.33-13.2(chr5:113576-34372083)x1 copy number loss See cases [RCV000446974] Chr5:113576..34372083 [GRCh37]
Chr5:5p15.33-13.2		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-13.2(chr5:22149-34041196)x1 copy number loss See cases [RCV000448019] Chr5:22149..34041196 [GRCh37]
Chr5:5p15.33-13.2		 pathogenic
GRCh37/hg19 5p14.2-11(chr5:24281195-46389339)x3 copy number gain See cases [RCV000512120] Chr5:24281195..46389339 [GRCh37]
Chr5:5p14.2-11		 likely pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-13.2(chr5:113576-35739404)x3 copy number gain not provided [RCV000682516] Chr5:113576..35739404 [GRCh37]
Chr5:5p15.33-13.2		 pathogenic
GRCh37/hg19 5p14.1-12(chr5:27227243-45685844)x3 copy number gain not provided [RCV000682542] Chr5:27227243..45685844 [GRCh37]
Chr5:5p14.1-12		 pathogenic
GRCh37/hg19 5p13.3(chr5:32427829-33458399)x3 copy number gain not provided [RCV000682544] Chr5:32427829..33458399 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.1388G>A (p.Arg463Gln) single nucleotide variant not provided [RCV001573610] Chr5:32782990 [GRCh38]
Chr5:32783096 [GRCh37]
Chr5:5p13.3		 likely benign|uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
NM_001204375.2(NPR3):c.1515-225G>A single nucleotide variant not provided [RCV001643794] Chr5:32786009 [GRCh38]
Chr5:32786115 [GRCh37]
Chr5:5p13.3		 benign
GRCh37/hg19 5p13.3-12(chr5:31351588-43480111)x3 copy number gain not provided [RCV000744593] Chr5:31351588..43480111 [GRCh37]
Chr5:5p13.3-12		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
NM_001204375.2(NPR3):c.442T>C (p.Ser148Pro) single nucleotide variant Boudin-Mortier syndrome [RCV001707924] Chr5:32712218 [GRCh38]
Chr5:32712324 [GRCh37]
Chr5:5p13.3		 pathogenic|likely pathogenic
NM_001204375.2(NPR3):c.1088A>T (p.Asp363Val) single nucleotide variant Boudin-Mortier syndrome [RCV001707926] Chr5:32774736 [GRCh38]
Chr5:32774842 [GRCh37]
Chr5:5p13.3		 pathogenic|likely pathogenic
NM_001204375.2(NPR3):c.1104C>T (p.Tyr368=) single nucleotide variant NPR3-related disorder [RCV003950607]|not provided [RCV000903371] Chr5:32774752 [GRCh38]
Chr5:32774858 [GRCh37]
Chr5:5p13.3		 benign|likely benign
NM_001204375.2(NPR3):c.1464C>T (p.Val488=) single nucleotide variant NPR3-related disorder [RCV003960794]|not provided [RCV000968049] Chr5:32784833 [GRCh38]
Chr5:32784939 [GRCh37]
Chr5:5p13.3		 benign
GRCh37/hg19 5p13.3-13.2(chr5:29720391-34124081)x1 copy number loss not provided [RCV001005668] Chr5:29720391..34124081 [GRCh37]
Chr5:5p13.3-13.2		 uncertain significance
NM_001204375.2(NPR3):c.770T>C (p.Val257Ala) single nucleotide variant Inborn genetic diseases [RCV003271507] Chr5:32724698 [GRCh38]
Chr5:32724804 [GRCh37]
Chr5:5p13.3		 uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32		 uncertain significance
NM_001204375.2(NPR3):c.583C>T (p.His195Tyr) single nucleotide variant not provided [RCV001889058] Chr5:32712359 [GRCh38]
Chr5:32712465 [GRCh37]
Chr5:5p13.3		 uncertain significance
NC_000005.9:g.(?_32355866)_(32786451_?)dup duplication not provided [RCV003105372] Chr5:32355866..32786451 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.-6G>C single nucleotide variant NPR3-related disorder [RCV003931242]|not provided [RCV001598001] Chr5:32711771 [GRCh38]
Chr5:32711877 [GRCh37]
Chr5:5p13.3		 benign
NM_001204375.2(NPR3):c.-201_-200insTTTTA insertion not provided [RCV001657440] Chr5:32711576..32711577 [GRCh38]
Chr5:32711682..32711683 [GRCh37]
Chr5:5p13.3		 benign
NM_001204375.2(NPR3):c.1564A>G (p.Asn522Asp) single nucleotide variant not provided [RCV001641090] Chr5:32786283 [GRCh38]
Chr5:32786389 [GRCh37]
Chr5:5p13.3		 benign
NM_001204375.2(NPR3):c.*200A>G single nucleotide variant not provided [RCV001652359] Chr5:32786545 [GRCh38]
Chr5:32786651 [GRCh37]
Chr5:5p13.3		 benign
NM_001204375.2(NPR3):c.893-84G>A single nucleotide variant not provided [RCV001621332] Chr5:32738780 [GRCh38]
Chr5:32738886 [GRCh37]
Chr5:5p13.3		 benign
NM_001204375.2(NPR3):c.1059+151del deletion not provided [RCV001659520] Chr5:32739181 [GRCh38]
Chr5:32739287 [GRCh37]
Chr5:5p13.3		 benign
NM_001204375.2(NPR3):c.892+146T>C single nucleotide variant not provided [RCV001656949] Chr5:32724966 [GRCh38]
Chr5:32725072 [GRCh37]
Chr5:5p13.3		 benign
NM_001204375.2(NPR3):c.1195+98G>T single nucleotide variant not provided [RCV001595864] Chr5:32774941 [GRCh38]
Chr5:32775047 [GRCh37]
Chr5:5p13.3		 benign
NM_001204375.2(NPR3):c.1059+165dup duplication not provided [RCV001536929] Chr5:32739183..32739184 [GRCh38]
Chr5:32739289..32739290 [GRCh37]
Chr5:5p13.3		 benign
NM_001204375.2(NPR3):c.237T>C (p.Ala79=) single nucleotide variant NPR3-related disorder [RCV003931249]|not provided [RCV001618986] Chr5:32712013 [GRCh38]
Chr5:32712119 [GRCh37]
Chr5:5p13.3		 benign
NM_001204375.2(NPR3):c.769+180C>T single nucleotide variant not provided [RCV001655084] Chr5:32712725 [GRCh38]
Chr5:32712831 [GRCh37]
Chr5:5p13.3		 benign
NM_001204375.2(NPR3):c.-229CTTTTT[5] microsatellite not provided [RCV001721558] Chr5:32711547..32711548 [GRCh38]
Chr5:32711653..32711654 [GRCh37]
Chr5:5p13.3		 benign
NM_001204375.2(NPR3):c.1059+155T>G single nucleotide variant not provided [RCV001637522] Chr5:32739185 [GRCh38]
Chr5:32739291 [GRCh37]
Chr5:5p13.3		 benign
NM_001204375.2(NPR3):c.893-79C>T single nucleotide variant not provided [RCV001715487] Chr5:32738785 [GRCh38]
Chr5:32738891 [GRCh37]
Chr5:5p13.3		 benign
NM_001204375.2(NPR3):c.1427-126A>G single nucleotide variant not provided [RCV001698739] Chr5:32784670 [GRCh38]
Chr5:32784776 [GRCh37]
Chr5:5p13.3		 benign
NM_001204375.2(NPR3):c.1059+153G>T single nucleotide variant not provided [RCV001671260] Chr5:32739183 [GRCh38]
Chr5:32739289 [GRCh37]
Chr5:5p13.3		 benign
NM_001204375.2(NPR3):c.1059+161_1059+162insA insertion not provided [RCV001650067] Chr5:32739191..32739192 [GRCh38]
Chr5:32739297..32739298 [GRCh37]
Chr5:5p13.3		 benign
NM_001204375.2(NPR3):c.-206_-205insC insertion not provided [RCV001684573] Chr5:32711571..32711572 [GRCh38]
Chr5:32711677..32711678 [GRCh37]
Chr5:5p13.3		 benign
NM_001204375.2(NPR3):c.-250C>A single nucleotide variant not provided [RCV001533898] Chr5:32711527 [GRCh38]
Chr5:32711633 [GRCh37]
Chr5:5p13.3		 benign
NM_001204375.2(NPR3):c.1524del (p.Lys507_Tyr508insTer) deletion Boudin-Mortier syndrome [RCV001707925] Chr5:32786243 [GRCh38]
Chr5:32786349 [GRCh37]
Chr5:5p13.3		 pathogenic
NM_001204375.2(NPR3):c.248del (p.Val83fs) deletion Boudin-Mortier syndrome [RCV001707927] Chr5:32712024 [GRCh38]
Chr5:32712130 [GRCh37]
Chr5:5p13.3		 pathogenic
NM_001204375.2(NPR3):c.1059+153del deletion not provided [RCV001641996] Chr5:32739183 [GRCh38]
Chr5:32739289 [GRCh37]
Chr5:5p13.3		 benign
GRCh37/hg19 5p13.3-12(chr5:29081195-45294031)x3 copy number gain See cases [RCV001310288] Chr5:29081195..45294031 [GRCh37]
Chr5:5p13.3-12		 pathogenic
NM_001204375.2(NPR3):c.893-212G>A single nucleotide variant not provided [RCV001541673] Chr5:32738652 [GRCh38]
Chr5:32738758 [GRCh37]
Chr5:5p13.3		 benign
NM_001204375.2(NPR3):c.1432G>A (p.Gly478Ser) single nucleotide variant not provided [RCV001423797] Chr5:32784801 [GRCh38]
Chr5:32784907 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.769+23C>T single nucleotide variant not provided [RCV001649281] Chr5:32712568 [GRCh38]
Chr5:32712674 [GRCh37]
Chr5:5p13.3		 benign
NM_001204375.2(NPR3):c.398G>T (p.Gly133Val) single nucleotide variant not provided [RCV004784763] Chr5:32712174 [GRCh38]
Chr5:32712280 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.218G>A (p.Arg73Gln) single nucleotide variant not provided [RCV002001853] Chr5:32711994 [GRCh38]
Chr5:32712100 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.692C>A (p.Thr231Lys) single nucleotide variant not provided [RCV001967773] Chr5:32712468 [GRCh38]
Chr5:32712574 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.1118A>G (p.His373Arg) single nucleotide variant Inborn genetic diseases [RCV002551010]|not provided [RCV001947350] Chr5:32774766 [GRCh38]
Chr5:32774872 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.1235G>A (p.Arg412Gln) single nucleotide variant not provided [RCV002025965] Chr5:32780761 [GRCh38]
Chr5:32780867 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.550A>T (p.Met184Leu) single nucleotide variant not provided [RCV002025468] Chr5:32712326 [GRCh38]
Chr5:32712432 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.1418G>A (p.Cys473Tyr) single nucleotide variant not provided [RCV001909154] Chr5:32783020 [GRCh38]
Chr5:32783126 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.160G>C (p.Glu54Gln) single nucleotide variant not provided [RCV001870879] Chr5:32711936 [GRCh38]
Chr5:32712042 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.916G>A (p.Asp306Asn) single nucleotide variant not provided [RCV002043550] Chr5:32738887 [GRCh38]
Chr5:32738993 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.183G>C (p.Gln61His) single nucleotide variant not provided [RCV001947922] Chr5:32711959 [GRCh38]
Chr5:32712065 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.821C>T (p.Ala274Val) single nucleotide variant Inborn genetic diseases [RCV002564416]|not provided [RCV001965764] Chr5:32724749 [GRCh38]
Chr5:32724855 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.292C>G (p.Arg98Gly) single nucleotide variant not provided [RCV001912006] Chr5:32712068 [GRCh38]
Chr5:32712174 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.763G>C (p.Glu255Gln) single nucleotide variant Inborn genetic diseases [RCV002548932]|not provided [RCV002043683] Chr5:32712539 [GRCh38]
Chr5:32712645 [GRCh37]
Chr5:5p13.3		 uncertain significance
GRCh37/hg19 5p14.1-11(chr5:26382110-46389339) copy number gain not specified [RCV002053485] Chr5:26382110..46389339 [GRCh37]
Chr5:5p14.1-11		 pathogenic
NM_001204375.2(NPR3):c.760A>G (p.Ser254Gly) single nucleotide variant not provided [RCV001965646] Chr5:32712536 [GRCh38]
Chr5:32712642 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.57G>C (p.Leu19Phe) single nucleotide variant not provided [RCV001992397] Chr5:32711833 [GRCh38]
Chr5:32711939 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.1550A>G (p.Gln517Arg) single nucleotide variant not provided [RCV001942969] Chr5:32786269 [GRCh38]
Chr5:32786375 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.1427-2A>G single nucleotide variant not provided [RCV001939827] Chr5:32784794 [GRCh38]
Chr5:32784900 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.1483G>A (p.Ala495Thr) single nucleotide variant not provided [RCV002016225] Chr5:32784852 [GRCh38]
Chr5:32784958 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.274C>T (p.Leu92Phe) single nucleotide variant not provided [RCV001955840] Chr5:32712050 [GRCh38]
Chr5:32712156 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.1465G>A (p.Val489Met) single nucleotide variant not provided [RCV002028910] Chr5:32784834 [GRCh38]
Chr5:32784940 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.1271T>C (p.Val424Ala) single nucleotide variant not provided [RCV001881387] Chr5:32780797 [GRCh38]
Chr5:32780903 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.1589G>A (p.Arg530Gln) single nucleotide variant not provided [RCV002013335] Chr5:32786308 [GRCh38]
Chr5:32786414 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.683G>A (p.Gly228Asp) single nucleotide variant Inborn genetic diseases [RCV002552972]|not provided [RCV001875658] Chr5:32712459 [GRCh38]
Chr5:32712565 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.688C>T (p.His230Tyr) single nucleotide variant Inborn genetic diseases [RCV002552193]|not provided [RCV001885836] Chr5:32712464 [GRCh38]
Chr5:32712570 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.1358G>A (p.Gly453Asp) single nucleotide variant Inborn genetic diseases [RCV003289158]|not provided [RCV001902476] Chr5:32782960 [GRCh38]
Chr5:32783066 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.1321C>T (p.Arg441Cys) single nucleotide variant not provided [RCV001952115] Chr5:32782923 [GRCh38]
Chr5:32783029 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.712G>C (p.Glu238Gln) single nucleotide variant not provided [RCV001991802] Chr5:32712488 [GRCh38]
Chr5:32712594 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.853G>A (p.Ala285Thr) single nucleotide variant not provided [RCV001990356] Chr5:32724781 [GRCh38]
Chr5:32724887 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.108G>A (p.Ala36=) single nucleotide variant not provided [RCV001935449] Chr5:32711884 [GRCh38]
Chr5:32711990 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.516G>T (p.Ser172=) single nucleotide variant not provided [RCV002130049] Chr5:32712292 [GRCh38]
Chr5:32712398 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.1449A>G (p.Ala483=) single nucleotide variant not provided [RCV002206004] Chr5:32784818 [GRCh38]
Chr5:32784924 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.1575A>G (p.Lys525=) single nucleotide variant not provided [RCV002127146] Chr5:32786294 [GRCh38]
Chr5:32786400 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.30C>T (p.Ser10=) single nucleotide variant not provided [RCV002187656] Chr5:32711806 [GRCh38]
Chr5:32711912 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.1514+12T>C single nucleotide variant not provided [RCV002130401] Chr5:32784895 [GRCh38]
Chr5:32785001 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.1044C>T (p.Leu348=) single nucleotide variant not provided [RCV002205248] Chr5:32739015 [GRCh38]
Chr5:32739121 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.33G>A (p.Pro11=) single nucleotide variant not provided [RCV002185333] Chr5:32711809 [GRCh38]
Chr5:32711915 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.789C>T (p.Ser263=) single nucleotide variant not provided [RCV002146393] Chr5:32724717 [GRCh38]
Chr5:32724823 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.330C>T (p.Asn110=) single nucleotide variant not provided [RCV002169287] Chr5:32712106 [GRCh38]
Chr5:32712212 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.822G>A (p.Ala274=) single nucleotide variant not provided [RCV002129779] Chr5:32724750 [GRCh38]
Chr5:32724856 [GRCh37]
Chr5:5p13.3		 benign
NM_001204375.2(NPR3):c.30C>G (p.Ser10=) single nucleotide variant not provided [RCV002127782] Chr5:32711806 [GRCh38]
Chr5:32711912 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.417A>G (p.Ala139=) single nucleotide variant not provided [RCV002088556] Chr5:32712193 [GRCh38]
Chr5:32712299 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.1514+18_1514+25del deletion not provided [RCV002128984] Chr5:32784899..32784906 [GRCh38]
Chr5:32785005..32785012 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.1437A>G (p.Leu479=) single nucleotide variant not provided [RCV002170942] Chr5:32784806 [GRCh38]
Chr5:32784912 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.772G>T (p.Val258Leu) single nucleotide variant not provided [RCV002117074] Chr5:32724700 [GRCh38]
Chr5:32724806 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.1588C>T (p.Arg530Trp) single nucleotide variant Inborn genetic diseases [RCV003015343]|NPR3-related disorder [RCV003978679]|not provided [RCV002105832] Chr5:32786307 [GRCh38]
Chr5:32786413 [GRCh37]
Chr5:5p13.3		 likely benign|uncertain significance
NM_001204375.2(NPR3):c.54G>T (p.Ala18=) single nucleotide variant not provided [RCV002079400] Chr5:32711830 [GRCh38]
Chr5:32711936 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.1203C>T (p.Ala401=) single nucleotide variant not provided [RCV002115778] Chr5:32780729 [GRCh38]
Chr5:32780835 [GRCh37]
Chr5:5p13.3		 benign|likely benign
NM_001204375.2(NPR3):c.1116A>G (p.Leu372=) single nucleotide variant not provided [RCV002171147] Chr5:32774764 [GRCh38]
Chr5:32774870 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.1196-20C>T single nucleotide variant not provided [RCV002150836] Chr5:32780702 [GRCh38]
Chr5:32780808 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.1233C>T (p.Asp411=) single nucleotide variant not provided [RCV002180629] Chr5:32780759 [GRCh38]
Chr5:32780865 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.657G>A (p.Gly219=) single nucleotide variant not provided [RCV002100115] Chr5:32712433 [GRCh38]
Chr5:32712539 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.1086C>T (p.His362=) single nucleotide variant not provided [RCV002119767] Chr5:32774734 [GRCh38]
Chr5:32774840 [GRCh37]
Chr5:5p13.3		 benign
NM_001204375.2(NPR3):c.852C>T (p.Tyr284=) single nucleotide variant not provided [RCV002097805] Chr5:32724780 [GRCh38]
Chr5:32724886 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.1514+8C>T single nucleotide variant not provided [RCV002117883] Chr5:32784891 [GRCh38]
Chr5:32784997 [GRCh37]
Chr5:5p13.3		 benign
NM_001204375.2(NPR3):c.1290+13del deletion not provided [RCV002154416] Chr5:32780829 [GRCh38]
Chr5:32780935 [GRCh37]
Chr5:5p13.3		 benign
NM_001204375.2(NPR3):c.309C>T (p.Tyr103=) single nucleotide variant not provided [RCV002163604] Chr5:32712085 [GRCh38]
Chr5:32712191 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.892+16C>A single nucleotide variant not provided [RCV002160442] Chr5:32724836 [GRCh38]
Chr5:32724942 [GRCh37]
Chr5:5p13.3		 benign
NM_001204375.2(NPR3):c.765G>A (p.Glu255=) single nucleotide variant not provided [RCV002217705] Chr5:32712541 [GRCh38]
Chr5:32712647 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.382C>G (p.Pro128Ala) single nucleotide variant not provided [RCV003231798] Chr5:32712158 [GRCh38]
Chr5:32712264 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.1256T>A (p.Ile419Asn) single nucleotide variant not provided [RCV002297114] Chr5:32780782 [GRCh38]
Chr5:32780888 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.1412C>T (p.Ser471Phe) single nucleotide variant Inborn genetic diseases [RCV003304663] Chr5:32783014 [GRCh38]
Chr5:32783120 [GRCh37]
Chr5:5p13.3		 uncertain significance
GRCh37/hg19 5p13.3-11(chr5:29348753-46389339)x3 copy number gain not provided [RCV002474514] Chr5:29348753..46389339 [GRCh37]
Chr5:5p13.3-11		 pathogenic
NM_001204375.2(NPR3):c.1195+5G>A single nucleotide variant not provided [RCV003011913] Chr5:32774848 [GRCh38]
Chr5:32774954 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.1221T>G (p.Asp407Glu) single nucleotide variant not provided [RCV003012229] Chr5:32780747 [GRCh38]
Chr5:32780853 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.803G>A (p.Arg268Gln) single nucleotide variant not provided [RCV002690256] Chr5:32724731 [GRCh38]
Chr5:32724837 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.146C>G (p.Pro49Arg) single nucleotide variant not provided [RCV002843427] Chr5:32711922 [GRCh38]
Chr5:32712028 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.693G>A (p.Thr231=) single nucleotide variant not provided [RCV002615040] Chr5:32712469 [GRCh38]
Chr5:32712575 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.272G>T (p.Arg91Leu) single nucleotide variant Inborn genetic diseases [RCV002971658]|not provided [RCV002971659] Chr5:32712048 [GRCh38]
Chr5:32712154 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.1514+9G>A single nucleotide variant not provided [RCV002617888] Chr5:32784892 [GRCh38]
Chr5:32784998 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.267G>C (p.Gly89=) single nucleotide variant not provided [RCV002889716] Chr5:32712043 [GRCh38]
Chr5:32712149 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.1282A>T (p.Thr428Ser) single nucleotide variant not provided [RCV002639757] Chr5:32780808 [GRCh38]
Chr5:32780914 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.272G>C (p.Arg91Pro) single nucleotide variant not provided [RCV002999112] Chr5:32712048 [GRCh38]
Chr5:32712154 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.342_347del (p.Phe114_Ser115del) deletion not provided [RCV002846291] Chr5:32712115..32712120 [GRCh38]
Chr5:32712221..32712226 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.1290+20G>A single nucleotide variant not provided [RCV002885150] Chr5:32780836 [GRCh38]
Chr5:32780942 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.1095C>G (p.Ile365Met) single nucleotide variant Inborn genetic diseases [RCV002888023] Chr5:32774743 [GRCh38]
Chr5:32774849 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.951G>A (p.Ser317=) single nucleotide variant not provided [RCV003080755] Chr5:32738922 [GRCh38]
Chr5:32739028 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.934G>A (p.Ala312Thr) single nucleotide variant not provided [RCV002639380] Chr5:32738905 [GRCh38]
Chr5:32739011 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.1290+9G>A single nucleotide variant not provided [RCV002576447] Chr5:32780825 [GRCh38]
Chr5:32780931 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.101G>A (p.Gly34Asp) single nucleotide variant not provided [RCV002666788] Chr5:32711877 [GRCh38]
Chr5:32711983 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.1080A>G (p.Gly360=) single nucleotide variant not provided [RCV002918201] Chr5:32774728 [GRCh38]
Chr5:32774834 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.1196-16G>A single nucleotide variant not provided [RCV002573830] Chr5:32780706 [GRCh38]
Chr5:32780812 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.1416C>G (p.Pro472=) single nucleotide variant not provided [RCV003055958] Chr5:32783018 [GRCh38]
Chr5:32783124 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.387C>T (p.Asp129=) single nucleotide variant not provided [RCV002872231] Chr5:32712163 [GRCh38]
Chr5:32712269 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.1514+9G>C single nucleotide variant not provided [RCV002851173] Chr5:32784892 [GRCh38]
Chr5:32784998 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.626T>A (p.Leu209Gln) single nucleotide variant Inborn genetic diseases [RCV002875132] Chr5:32712402 [GRCh38]
Chr5:32712508 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.1566C>T (p.Asn522=) single nucleotide variant not provided [RCV002623472] Chr5:32786285 [GRCh38]
Chr5:32786391 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.1582G>A (p.Glu528Lys) single nucleotide variant not provided [RCV002829844] Chr5:32786301 [GRCh38]
Chr5:32786407 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.1290+14A>C single nucleotide variant not provided [RCV003041688] Chr5:32780830 [GRCh38]
Chr5:32780936 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.51G>C (p.Trp17Cys) single nucleotide variant not provided [RCV002675972] Chr5:32711827 [GRCh38]
Chr5:32711933 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.63C>G (p.Ala21=) single nucleotide variant not provided [RCV002717098] Chr5:32711839 [GRCh38]
Chr5:32711945 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.8C>G (p.Ser3Cys) single nucleotide variant not provided [RCV002651883] Chr5:32711784 [GRCh38]
Chr5:32711890 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.1446G>A (p.Ser482=) single nucleotide variant not provided [RCV002627424] Chr5:32784815 [GRCh38]
Chr5:32784921 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.366G>A (p.Ala122=) single nucleotide variant not provided [RCV002876995] Chr5:32712142 [GRCh38]
Chr5:32712248 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.1426+11A>G single nucleotide variant not provided [RCV002715548] Chr5:32783039 [GRCh38]
Chr5:32783145 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.86_106del (p.Val29_Gly35del) deletion not provided [RCV002770519] Chr5:32711852..32711872 [GRCh38]
Chr5:32711958..32711978 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.769+17C>A single nucleotide variant not provided [RCV002646309] Chr5:32712562 [GRCh38]
Chr5:32712668 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.91G>A (p.Gly31Ser) single nucleotide variant not provided [RCV002632160] Chr5:32711867 [GRCh38]
Chr5:32711973 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.90CGG[5] (p.Gly35_Ala36insGly) microsatellite not provided [RCV002628290] Chr5:32711863..32711864 [GRCh38]
Chr5:32711969..32711970 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.1196-7C>A single nucleotide variant not provided [RCV002807097] Chr5:32780715 [GRCh38]
Chr5:32780821 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.1261A>G (p.Met421Val) single nucleotide variant not provided [RCV002630124] Chr5:32780787 [GRCh38]
Chr5:32780893 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.1439A>G (p.Glu480Gly) single nucleotide variant Inborn genetic diseases [RCV004065637]|not provided [RCV002601248] Chr5:32784808 [GRCh38]
Chr5:32784914 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.157A>G (p.Ile53Val) single nucleotide variant Inborn genetic diseases [RCV002747807] Chr5:32711933 [GRCh38]
Chr5:32712039 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.1222G>A (p.Ala408Thr) single nucleotide variant Inborn genetic diseases [RCV002921566] Chr5:32780748 [GRCh38]
Chr5:32780854 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.769+17CCCGGGC[3] microsatellite not provided [RCV002653096] Chr5:32712561..32712562 [GRCh38]
Chr5:32712667..32712668 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.1097T>C (p.Leu366Pro) single nucleotide variant not provided [RCV003093599] Chr5:32774745 [GRCh38]
Chr5:32774851 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.1322G>A (p.Arg441His) single nucleotide variant Inborn genetic diseases [RCV002944517] Chr5:32782924 [GRCh38]
Chr5:32783030 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.1125A>G (p.Val375=) single nucleotide variant not provided [RCV002653792] Chr5:32774773 [GRCh38]
Chr5:32774879 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.1087G>A (p.Asp363Asn) single nucleotide variant not provided [RCV002635431] Chr5:32774735 [GRCh38]
Chr5:32774841 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.533C>A (p.Ala178Glu) single nucleotide variant not provided [RCV002609168] Chr5:32712309 [GRCh38]
Chr5:32712415 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.1059+1G>A single nucleotide variant not provided [RCV002584090] Chr5:32739031 [GRCh38]
Chr5:32739137 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.769+18C>G single nucleotide variant not provided [RCV002609588] Chr5:32712563 [GRCh38]
Chr5:32712669 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.1169A>G (p.Gln390Arg) single nucleotide variant not provided [RCV002587966] Chr5:32774817 [GRCh38]
Chr5:32774923 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.126C>G (p.Arg42=) single nucleotide variant not provided [RCV002605312] Chr5:32711902 [GRCh38]
Chr5:32712008 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.1099C>T (p.Leu367Phe) single nucleotide variant not provided [RCV003069878] Chr5:32774747 [GRCh38]
Chr5:32774853 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.1162A>G (p.Ile388Val) single nucleotide variant not provided [RCV002606289] Chr5:32774810 [GRCh38]
Chr5:32774916 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.1496T>A (p.Met499Lys) single nucleotide variant not provided [RCV002721954] Chr5:32784865 [GRCh38]
Chr5:32784971 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.770-10C>T single nucleotide variant not provided [RCV002676732] Chr5:32724688 [GRCh38]
Chr5:32724794 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.1451T>C (p.Val484Ala) single nucleotide variant Inborn genetic diseases [RCV003198930] Chr5:32784820 [GRCh38]
Chr5:32784926 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.1441G>C (p.Glu481Gln) single nucleotide variant Inborn genetic diseases [RCV003194465] Chr5:32784810 [GRCh38]
Chr5:32784916 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.743T>C (p.Val248Ala) single nucleotide variant Inborn genetic diseases [RCV003214476] Chr5:32712519 [GRCh38]
Chr5:32712625 [GRCh37]
Chr5:5p13.3		 uncertain significance
GRCh37/hg19 5p15.33-13.2(chr5:113577-35613146)x1 copy number loss not provided [RCV003485447] Chr5:113577..35613146 [GRCh37]
Chr5:5p15.33-13.2		 pathogenic
NM_001204375.2(NPR3):c.893-10T>C single nucleotide variant not provided [RCV003570480] Chr5:32738854 [GRCh38]
Chr5:32738960 [GRCh37]
Chr5:5p13.3		 likely benign
GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3 copy number gain See cases [RCV003482191] Chr5:29299893..45899898 [GRCh38]
Chr5:5p13.3-12		 likely pathogenic
NM_001204375.2(NPR3):c.1291-5T>A single nucleotide variant not provided [RCV003827331] Chr5:32782888 [GRCh38]
Chr5:32782994 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.196T>C (p.Leu66=) single nucleotide variant not provided [RCV003716184] Chr5:32711972 [GRCh38]
Chr5:32712078 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.468G>A (p.Ser156=) single nucleotide variant not provided [RCV003660124] Chr5:32712244 [GRCh38]
Chr5:32712350 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.1227C>T (p.Asn409=) single nucleotide variant not provided [RCV003877354] Chr5:32780753 [GRCh38]
Chr5:32780859 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.1206G>A (p.Gly402=) single nucleotide variant not provided [RCV003673367] Chr5:32780732 [GRCh38]
Chr5:32780838 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.1470G>T (p.Gly490=) single nucleotide variant not provided [RCV003855821] Chr5:32784839 [GRCh38]
Chr5:32784945 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.769+20G>C single nucleotide variant not provided [RCV003837873] Chr5:32712565 [GRCh38]
Chr5:32712671 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.770-4C>T single nucleotide variant not provided [RCV003835382] Chr5:32724694 [GRCh38]
Chr5:32724800 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.1515-16C>T single nucleotide variant not provided [RCV003816379] Chr5:32786218 [GRCh38]
Chr5:32786324 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.72C>T (p.Thr24=) single nucleotide variant not provided [RCV003818532] Chr5:32711848 [GRCh38]
Chr5:32711954 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.1059+7G>A single nucleotide variant not provided [RCV003557114] Chr5:32739037 [GRCh38]
Chr5:32739143 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.1107C>T (p.Val369=) single nucleotide variant not provided [RCV003682316] Chr5:32774755 [GRCh38]
Chr5:32774861 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.447C>T (p.His149=) single nucleotide variant not provided [RCV003737170] Chr5:32712223 [GRCh38]
Chr5:32712329 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.72C>A (p.Thr24=) single nucleotide variant not provided [RCV003862180] Chr5:32711848 [GRCh38]
Chr5:32711954 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.1302T>C (p.Asp434=) single nucleotide variant not provided [RCV003554743] Chr5:32782904 [GRCh38]
Chr5:32783010 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.285G>A (p.Pro95=) single nucleotide variant not provided [RCV003684058] Chr5:32712061 [GRCh38]
Chr5:32712167 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.769+8G>C single nucleotide variant not provided [RCV003550786] Chr5:32712553 [GRCh38]
Chr5:32712659 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.1515-17A>G single nucleotide variant not provided [RCV003842486] Chr5:32786217 [GRCh38]
Chr5:32786323 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.1291-6A>G single nucleotide variant not provided [RCV003857029] Chr5:32782887 [GRCh38]
Chr5:32782993 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.603A>G (p.Ala201=) single nucleotide variant not provided [RCV003731979] Chr5:32712379 [GRCh38]
Chr5:32712485 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.1132G>A (p.Ala378Thr) single nucleotide variant Inborn genetic diseases [RCV004491112] Chr5:32774780 [GRCh38]
Chr5:32774886 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.287G>A (p.Gly96Asp) single nucleotide variant Inborn genetic diseases [RCV004491114] Chr5:32712063 [GRCh38]
Chr5:32712169 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.354C>A (p.Asp118Glu) single nucleotide variant Inborn genetic diseases [RCV004491115] Chr5:32712130 [GRCh38]
Chr5:32712236 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.64G>A (p.Gly22Ser) single nucleotide variant Inborn genetic diseases [RCV004491117] Chr5:32711840 [GRCh38]
Chr5:32711946 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001364458.2(NPR3):c.50-14043G>A single nucleotide variant NPR3-related disorder [RCV003939851] Chr5:32710655 [GRCh38]
Chr5:32710761 [GRCh37]
Chr5:5p13.3		 benign
NM_001204375.2(NPR3):c.888C>A (p.Ser296=) single nucleotide variant NPR3-related disorder [RCV003926830] Chr5:32724816 [GRCh38]
Chr5:32724922 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001204375.2(NPR3):c.1273G>A (p.Glu425Lys) single nucleotide variant Inborn genetic diseases [RCV004491113] Chr5:32780799 [GRCh38]
Chr5:32780905 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.43C>G (p.Leu15Val) single nucleotide variant Inborn genetic diseases [RCV004491116] Chr5:32711819 [GRCh38]
Chr5:32711925 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.1290+8C>T single nucleotide variant NPR3-related disorder [RCV003934576] Chr5:32780824 [GRCh38]
Chr5:32780930 [GRCh37]
Chr5:5p13.3		 likely benign
NM_001363652.2(NPR3):c.18G>A (p.Leu6=) single nucleotide variant NPR3-related disorder [RCV003976847] Chr5:32710680 [GRCh38]
Chr5:32710786 [GRCh37]
Chr5:5p13.3		 benign
NM_001204375.2(NPR3):c.658dup (p.Val220fs) duplication not provided [RCV003886845] Chr5:32712429..32712430 [GRCh38]
Chr5:32712535..32712536 [GRCh37]
Chr5:5p13.3		 pathogenic
NM_001204375.2(NPR3):c.820G>A (p.Ala274Thr) single nucleotide variant Inborn genetic diseases [RCV004491118] Chr5:32724748 [GRCh38]
Chr5:32724854 [GRCh37]
Chr5:5p13.3		 uncertain significance
NC_000005.9:g.(?_32355866)_(32786451_?)del deletion Pure or complex autosomal recessive spastic paraplegia [RCV004580529] Chr5:32355866..32786451 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.128A>T (p.Gln43Leu) single nucleotide variant Inborn genetic diseases [RCV004638625] Chr5:32711904 [GRCh38]
Chr5:32712010 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.799A>C (p.Ile267Leu) single nucleotide variant Inborn genetic diseases [RCV004638626] Chr5:32724727 [GRCh38]
Chr5:32724833 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.598G>T (p.Ala200Ser) single nucleotide variant Inborn genetic diseases [RCV004650322] Chr5:32712374 [GRCh38]
Chr5:32712480 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.961A>T (p.Thr321Ser) single nucleotide variant Inborn genetic diseases [RCV004650323] Chr5:32738932 [GRCh38]
Chr5:32739038 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.714G>T (p.Glu238Asp) single nucleotide variant Inborn genetic diseases [RCV004650324] Chr5:32712490 [GRCh38]
Chr5:32712596 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.691_692del (p.Thr231fs) microsatellite Boudin-Mortier syndrome [RCV004698890] Chr5:32712464..32712465 [GRCh38]
Chr5:32712570..32712571 [GRCh37]
Chr5:5p13.3		 likely pathogenic
NM_001204375.2(NPR3):c.1209G>C (p.Gln403His) single nucleotide variant Inborn genetic diseases [RCV004953908] Chr5:32780735 [GRCh38]
Chr5:32780841 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.1415C>T (p.Pro472Leu) single nucleotide variant Inborn genetic diseases [RCV004953909] Chr5:32783017 [GRCh38]
Chr5:32783123 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.752T>G (p.Ile251Ser) single nucleotide variant Inborn genetic diseases [RCV004953910] Chr5:32712528 [GRCh38]
Chr5:32712634 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.1433G>C (p.Gly478Ala) single nucleotide variant Inborn genetic diseases [RCV004953914] Chr5:32784802 [GRCh38]
Chr5:32784908 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.100G>T (p.Gly34Cys) single nucleotide variant Inborn genetic diseases [RCV004953913] Chr5:32711876 [GRCh38]
Chr5:32711982 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.520C>G (p.Leu174Val) single nucleotide variant Inborn genetic diseases [RCV004953911] Chr5:32712296 [GRCh38]
Chr5:32712402 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_001204375.2(NPR3):c.469G>A (p.Ala157Thr) single nucleotide variant Inborn genetic diseases [RCV004953912] Chr5:32712245 [GRCh38]
Chr5:32712351 [GRCh37]
Chr5:5p13.3		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:2839
Count of miRNA genes:1134
Interacting mature miRNAs:1421
Transcripts:ENST00000265074, ENST00000415167, ENST00000415685, ENST00000434067, ENST00000506712, ENST00000507141, ENST00000509104
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406998338GWAS647314_HBMI-adjusted waist circumference QTL GWAS647314 (human)8e-16body size trait (VT:0100005)53278756432787565Human
597511455GWAS1607529_Hsystolic blood pressure QTL GWAS1607529 (human)9e-10systolic blood pressuresystolic blood pressure (CMO:0000004)53269483632694837Human
597470874GWAS1566948_Hcoronary artery disease QTL GWAS1566948 (human)0.000008coronary artery disease53269748532697486Human
597322012GWAS1418086_HBMI-adjusted hip circumference QTL GWAS1418086 (human)3e-11BMI-adjusted hip circumferencehip circumference (CMO:0000014)53271416432714165Human
597322013GWAS1418087_HBMI-adjusted hip circumference QTL GWAS1418087 (human)8e-09BMI-adjusted hip circumferencehip circumference (CMO:0000014)53271712232717123Human
597190815GWAS1286889_Hsexual dimorphism measurement QTL GWAS1286889 (human)4e-11sexual dimorphism measurement53277193732771938Human
406998346GWAS647322_HBMI-adjusted waist circumference QTL GWAS647322 (human)1e-14body size trait (VT:0100005)53271038032710381Human
406998344GWAS647320_HBMI-adjusted waist circumference QTL GWAS647320 (human)3e-26body size trait (VT:0100005)53271152732711528Human
406998345GWAS647321_HBMI-adjusted waist circumference QTL GWAS647321 (human)8e-24body size trait (VT:0100005)53276852832768529Human
596979480GWAS1098999_Hbody height QTL GWAS1098999 (human)1e-21body height53277723932777240Human
597116166GWAS1212240_Helectrocardiography QTL GWAS1212240 (human)1e-08electrocardiography53271300232713003Human
406915792GWAS564768_Hlean body mass QTL GWAS564768 (human)4e-09body lean mass (VT:0010483)total body lean mass (CMO:0003950)53271712232717123Human
597318027GWAS1414101_HBMI-adjusted waist circumference QTL GWAS1414101 (human)1e-09body size trait (VT:0100005)53276301232763013Human
597320715GWAS1416789_Hbody surface area QTL GWAS1416789 (human)6e-10body surface area53277193732771938Human
597116165GWAS1212239_Helectrocardiography QTL GWAS1212239 (human)3e-09electrocardiography53271300232713003Human
597116164GWAS1212238_Helectrocardiography QTL GWAS1212238 (human)7e-10electrocardiography53271300232713003Human
597318028GWAS1414102_HBMI-adjusted waist circumference QTL GWAS1414102 (human)4e-14body size trait (VT:0100005)53276852832768529Human
597318029GWAS1414103_HBMI-adjusted waist circumference QTL GWAS1414103 (human)5e-10body size trait (VT:0100005)53277320832773209Human
596968461GWAS1087980_Hbody height QTL GWAS1087980 (human)2e-69body height53271152732711528Human
597581702GWAS1638562_Hsystolic blood pressure QTL GWAS1638562 (human)2e-32systolic blood pressuresystolic blood pressure (CMO:0000004)53271300232713003Human
597290499GWAS1386573_HBMI-adjusted waist-hip ratio QTL GWAS1386573 (human)5e-09body size trait (VT:0100005)53277183232771833Human
597253762GWAS1349836_Htime to remission of COVID-19 symptoms, COVID-19, response to placebo QTL GWAS1349836 (human)0.000001time to remission of COVID-19 symptoms, COVID-19, response to placebo53275087732750878Human
596966455GWAS1085974_Hbody height QTL GWAS1085974 (human)3e-56body height53271038032710381Human
597026876GWAS1122950_Hsystolic blood pressure, alcohol drinking QTL GWAS1122950 (human)2e-29systolic blood pressure, alcohol drinkingsystolic blood pressure (CMO:0000004)53270954732709548Human
597447222GWAS1543296_Hfree cholesterol:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS1543296 (human)3e-08free cholesterol:total lipids ratio, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)53271648332716484Human
597324342GWAS1420416_Hsystolic blood pressure QTL GWAS1420416 (human)1e-52systolic blood pressuresystolic blood pressure (CMO:0000004)53271300232713003Human
406894318GWAS543294_Hovarian reserve QTL GWAS543294 (human)0.000001ovarian reserve53274853132748532Human
597420970GWAS1517044_Hsystolic blood pressure QTL GWAS1517044 (human)1e-15systolic blood pressuresystolic blood pressure (CMO:0000004)53274708232747083Human
597420968GWAS1517042_Hsystolic blood pressure QTL GWAS1517042 (human)2e-26systolic blood pressuresystolic blood pressure (CMO:0000004)53271455532714556Human
596956320GWAS1075839_HBMI-adjusted waist circumference QTL GWAS1075839 (human)0.000005BMI-adjusted waist circumference53275356632753567Human
596979233GWAS1098752_Hbody height QTL GWAS1098752 (human)1e-57body height53276636032766361Human
597581739GWAS1638599_Hdiastolic blood pressure QTL GWAS1638599 (human)6e-22diastolic blood pressurediastolic blood pressure (CMO:0000005)53271300232713003Human
597037216GWAS1133290_Hpulse pressure measurement, alcohol drinking QTL GWAS1133290 (human)1e-25pulse pressure measurement, alcohol drinkingpulse pressure (CMO:0000292)53271300232713003Human
597065888GWAS1161962_HBMI-adjusted waist circumference QTL GWAS1161962 (human)4e-08body size trait (VT:0100005)53275356632753567Human
596951981GWAS1071500_Hbody mass index QTL GWAS1071500 (human)4e-11body mass index53272337232723373Human
597180707GWAS1276781_Hpyruvate measurement QTL GWAS1276781 (human)3e-08pyruvate measurementblood pyruvate level (CMO:0002422)53272101032721011Human
597420967GWAS1517041_Hsystolic blood pressure QTL GWAS1517041 (human)6e-19systolic blood pressuresystolic blood pressure (CMO:0000004)53269653032696531Human
597065174GWAS1161248_HBMI-adjusted waist circumference, physical activity measurement QTL GWAS1161248 (human)7e-08wellness/fitness trait (VT:1000152)voluntary body movement measurement (CMO:0000954)53275356632753567Human
597253976GWAS1350050_Htime to remission of COVID-19 symptoms, COVID-19 QTL GWAS1350050 (human)5e-08time to remission of COVID-19 symptoms, COVID-1953275087732750878Human
406998400GWAS647376_HBMI-adjusted waist circumference QTL GWAS647376 (human)5e-09body size trait (VT:0100005)53278630732786308Human
597255003GWAS1351077_HBMI-adjusted waist circumference QTL GWAS1351077 (human)3e-08body size trait (VT:0100005)53278756432787565Human
597178203GWAS1274277_Hbody mass index QTL GWAS1274277 (human)5e-08body mass indexbody mass index (BMI) (CMO:0000105)53277193732771938Human
597245136GWAS1341210_HBMI-adjusted waist-hip ratio QTL GWAS1341210 (human)2e-10body size trait (VT:0100005)53277320832773209Human
597254999GWAS1351073_HBMI-adjusted waist circumference QTL GWAS1351073 (human)1e-09body size trait (VT:0100005)53271322132713222Human
597266646GWAS1362720_Hsystolic blood pressure QTL GWAS1362720 (human)1e-21systolic blood pressuresystolic blood pressure (CMO:0000004)53271455532714556Human
597491020GWAS1587094_Hpulse pressure measurement QTL GWAS1587094 (human)1e-18pulse pressure measurementpulse pressure (CMO:0000292)53270584632705847Human
596979137GWAS1098656_Hbody height QTL GWAS1098656 (human)1e-22body height53278480132784802Human
597031875GWAS1127949_HBMI-adjusted waist-hip ratio QTL GWAS1127949 (human)1e-14body size trait (VT:0100005)53277320832773209Human
597491786GWAS1587860_Hpulse pressure measurement QTL GWAS1587860 (human)8e-12pulse pressure measurementpulse pressure (CMO:0000292)53269483632694837Human
597031502GWAS1127576_Hwaist-hip ratio QTL GWAS1127576 (human)0.000002waist-hip ratiowaist to hip ratio (WHR) (CMO:0000020)53277320832773209Human
597454784GWAS1550858_HBMI-adjusted waist circumference QTL GWAS1550858 (human)1e-14body size trait (VT:0100005)53271648332716484Human
597228920GWAS1324994_Happendicular lean mass QTL GWAS1324994 (human)1e-17appendicular lean mass53271152732711528Human
597299323GWAS1395397_HBMI-adjusted hip circumference QTL GWAS1395397 (human)3e-12BMI-adjusted hip circumferencehip circumference (CMO:0000014)53271038032710381Human
597293311GWAS1389385_Hbody mass index QTL GWAS1389385 (human)4e-11body mass indexbody mass index (BMI) (CMO:0000105)53272337232723373Human
597505914GWAS1601988_HBMI-adjusted hip circumference QTL GWAS1601988 (human)8e-12BMI-adjusted hip circumferencehip circumference (CMO:0000014)53271648332716484Human
597033470GWAS1129544_Hlean body mass QTL GWAS1129544 (human)4e-12body lean mass (VT:0010483)total body lean mass (CMO:0003950)53271712232717123Human
596979069GWAS1098588_Hbody height QTL GWAS1098588 (human)2e-17body height53278630732786308Human
597064572GWAS1160646_HBMI-adjusted waist circumference QTL GWAS1160646 (human)0.000005wellness/fitness trait (VT:1000152)voluntary body movement measurement (CMO:0000954)53275356632753567Human
597064573GWAS1160647_HBMI-adjusted waist circumference QTL GWAS1160647 (human)0.0000003body size trait (VT:0100005)53275356632753567Human
597286005GWAS1382079_Hbody weight QTL GWAS1382079 (human)4e-09body mass (VT:0001259)body weight (CMO:0000012)53271970532719706Human
597290613GWAS1386687_HBMI-adjusted waist-hip ratio QTL GWAS1386687 (human)3e-11body size trait (VT:0100005)53277320832773209Human
597191798GWAS1287872_Hanthropometric measurement QTL GWAS1287872 (human)4e-10anthropometric measurementbody morphological measurement (CMO:0000021)53276301232763013Human
597050360GWAS1146434_HBMI-adjusted waist-hip ratio QTL GWAS1146434 (human)3e-13body size trait (VT:0100005)53277320832773209Human
406961969GWAS610945_Hsystolic blood pressure QTL GWAS610945 (human)0.0000002systolic blood pressuresystolic blood pressure (CMO:0000004)53271416432714165Human
597065442GWAS1161516_HBMI-adjusted waist circumference QTL GWAS1161516 (human)0.000001body size trait (VT:0100005)53275356632753567Human
596958689GWAS1078208_Hbody height QTL GWAS1078208 (human)1e-300body height53269483632694837Human
597463401GWAS1559475_Hdiastolic blood pressure QTL GWAS1559475 (human)7e-13diastolic blood pressurediastolic blood pressure (CMO:0000005)53276027732760278Human
407112508GWAS761484_Hwaist-hip ratio QTL GWAS761484 (human)2e-12waist-hip ratiowaist to hip ratio (WHR) (CMO:0000020)53277320832773209Human
596966895GWAS1086414_Hsystolic blood pressure QTL GWAS1086414 (human)1e-52systolic blood pressure53271300232713003Human
597273060GWAS1369134_Hsystolic blood pressure QTL GWAS1369134 (human)1e-10systolic blood pressuresystolic blood pressure (CMO:0000004)53277064432770645Human

Markers in Region
SHGC-146519  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37532,788,733 - 32,789,058UniSTSGRCh37
Build 36532,824,490 - 32,824,815RGDNCBI36
Celera532,670,365 - 32,670,690RGD
Cytogenetic Map5p14-p13UniSTS
HuRef532,756,782 - 32,757,107UniSTS
TNG Radiation Hybrid Map515342.0UniSTS
SHGC-56933  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37532,786,763 - 32,786,955UniSTSGRCh37
Build 36532,822,520 - 32,822,712RGDNCBI36
Celera532,668,395 - 32,668,587RGD
Cytogenetic Map5p14-p13UniSTS
HuRef532,754,812 - 32,755,004UniSTS
TNG Radiation Hybrid Map515338.0UniSTS
SGC32140  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37532,791,672 - 32,791,819UniSTSGRCh37
Build 36532,827,429 - 32,827,576RGDNCBI36
Celera532,673,304 - 32,673,451RGD
Cytogenetic Map5p14-p13UniSTS
HuRef532,759,721 - 32,759,868UniSTS
Whitehead-RH Map5125.7UniSTS
NCBI RH Map5175.4UniSTS
L28195  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37532,779,604 - 32,779,752UniSTSGRCh37
Build 36532,815,361 - 32,815,509RGDNCBI36
Celera532,661,236 - 32,661,384RGD
Cytogenetic Map5p14-p13UniSTS
HuRef532,747,659 - 32,747,807UniSTS
RH71385  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37532,784,908 - 32,786,387UniSTSGRCh37
Celera532,666,540 - 32,668,019UniSTS
Cytogenetic Map5p14-p13UniSTS
HuRef532,752,963 - 32,754,436UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2358 2788 2234 4791 1712 2324 3 612 1569 455 2152 6848 6089 46 3668 837 1712 1599 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_028162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001204375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001204376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001364458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001364460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011514047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011514049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011514050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB101582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC026703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF025998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI335695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC131540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF224187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ014050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC876956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M59305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X52282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000265074   ⟹   ENSP00000265074
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl532,711,321 - 32,791,720 (+)Ensembl
Ensembl Acc Id: ENST00000326958   ⟹   ENSP00000318340
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl532,710,637 - 32,791,724 (+)Ensembl
Ensembl Acc Id: ENST00000415167   ⟹   ENSP00000398028
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl532,711,723 - 32,786,421 (+)Ensembl
Ensembl Acc Id: ENST00000434067   ⟹   ENSP00000388408
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl532,709,407 - 32,786,826 (+)Ensembl
Ensembl Acc Id: ENST00000506712
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl532,710,654 - 32,783,607 (+)Ensembl
Ensembl Acc Id: ENST00000507141   ⟹   ENSP00000423730
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl532,712,331 - 32,716,828 (+)Ensembl
Ensembl Acc Id: ENST00000509104   ⟹   ENSP00000425325
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl532,689,070 - 32,783,028 (+)Ensembl
RefSeq Acc Id: NM_000908   ⟹   NP_000899
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38532,711,321 - 32,791,720 (+)NCBI
GRCh37532,710,284 - 32,791,830 (+)NCBI
Build 36532,747,422 - 32,823,013 (+)NCBI Archive
HuRef532,678,571 - 32,759,879 (+)ENTREZGENE
CHM1_1532,713,527 - 32,793,931 (+)NCBI
T2T-CHM13v2.0532,824,983 - 32,905,709 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001204375   ⟹   NP_001191304
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38532,711,321 - 32,791,720 (+)NCBI
GRCh37532,710,284 - 32,791,830 (+)NCBI
HuRef532,678,571 - 32,759,879 (+)ENTREZGENE
CHM1_1532,713,527 - 32,793,931 (+)NCBI
T2T-CHM13v2.0532,824,983 - 32,905,709 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001204376   ⟹   NP_001191305
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38532,710,649 - 32,791,720 (+)NCBI
GRCh37532,710,284 - 32,791,830 (+)NCBI
HuRef532,678,571 - 32,759,879 (+)ENTREZGENE
CHM1_1532,712,833 - 32,793,931 (+)NCBI
T2T-CHM13v2.0532,824,309 - 32,905,709 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001363652   ⟹   NP_001350581
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38532,710,649 - 32,791,720 (+)NCBI
T2T-CHM13v2.0532,824,309 - 32,905,709 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001364458   ⟹   NP_001351387
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38532,690,872 - 32,791,720 (+)NCBI
T2T-CHM13v2.0532,804,528 - 32,905,709 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001364460   ⟹   NP_001351389
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38532,710,649 - 32,791,720 (+)NCBI
T2T-CHM13v2.0532,824,309 - 32,905,709 (+)NCBI
Sequence:
RefSeq Acc Id: NP_001191305   ⟸   NM_001204376
- Peptide Label: isoform 3
- UniProtKB: P17342 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001191304   ⟸   NM_001204375
- Peptide Label: isoform 1 precursor
- UniProtKB: B4DT84 (UniProtKB/Swiss-Prot),   A2RRD1 (UniProtKB/Swiss-Prot),   E7EPG9 (UniProtKB/Swiss-Prot),   P17342 (UniProtKB/Swiss-Prot),   A8K4A5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_000899   ⟸   NM_000908
- Peptide Label: isoform 2 precursor
- UniProtKB: Q60I31 (UniProtKB/TrEMBL),   A8K4A5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001351387   ⟸   NM_001364458
- Peptide Label: isoform 5
RefSeq Acc Id: NP_001350581   ⟸   NM_001363652
- Peptide Label: isoform 4
- UniProtKB: C9JK69 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001351389   ⟸   NM_001364460
- Peptide Label: isoform 6
Ensembl Acc Id: ENSP00000423730   ⟸   ENST00000507141
Ensembl Acc Id: ENSP00000398028   ⟸   ENST00000415167
Ensembl Acc Id: ENSP00000425325   ⟸   ENST00000509104
Ensembl Acc Id: ENSP00000318340   ⟸   ENST00000326958
Ensembl Acc Id: ENSP00000388408   ⟸   ENST00000434067
Ensembl Acc Id: ENSP00000265074   ⟸   ENST00000265074
Protein Domains
Receptor ligand binding region

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P17342-F1-model_v2 AlphaFold P17342 1-541 view protein structure

Promoters
RGD ID:6869328
Promoter ID:EPDNEW_H7829
Type:initiation region
Name:NPR3_1
Description:natriuretic peptide receptor 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7830  EPDNEW_H7831  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38532,710,649 - 32,710,709EPDNEW
RGD ID:6869330
Promoter ID:EPDNEW_H7830
Type:initiation region
Name:NPR3_3
Description:natriuretic peptide receptor 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7829  EPDNEW_H7831  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38532,711,543 - 32,711,603EPDNEW
RGD ID:6869332
Promoter ID:EPDNEW_H7831
Type:initiation region
Name:NPR3_2
Description:natriuretic peptide receptor 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7829  EPDNEW_H7830  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38532,711,766 - 32,711,826EPDNEW
RGD ID:6803405
Promoter ID:HG_KWN:49914
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000317551,   UC010IUO.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36532,745,846 - 32,746,346 (+)MPROMDB
RGD ID:6803402
Promoter ID:HG_KWN:49915
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:NM_000908,   UC003JHV.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36532,747,446 - 32,747,946 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7945 AgrOrtholog
COSMIC NPR3 COSMIC
Ensembl Genes ENSG00000113389 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000265074 ENTREZGENE
  ENST00000265074.13 UniProtKB/Swiss-Prot
  ENST00000326958 ENTREZGENE
  ENST00000326958.5 UniProtKB/Swiss-Prot
  ENST00000415167 ENTREZGENE
  ENST00000415167.2 UniProtKB/Swiss-Prot
  ENST00000434067 ENTREZGENE
  ENST00000434067.6 UniProtKB/TrEMBL
  ENST00000507141.1 UniProtKB/TrEMBL
  ENST00000509104.5 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.2300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000113389 GTEx
HGNC ID HGNC:7945 ENTREZGENE
Human Proteome Map NPR3 Human Proteome Map
InterPro ANF_lig-bd_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANP_Clearance_Receptor UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANPR/GUC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peripla_BP_I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4883 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 4883 ENTREZGENE
OMIM 108962 OMIM
PANTHER ATRIAL NATRIURETIC PEPTIDE RECEPTOR 3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NATRIURETIC PEPTIDE RECEPTOR 3-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ANF_receptor UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31737 PharmGKB
PRINTS NATPEPTIDER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ANF_RECEPTORS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53822 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A2RRD1 ENTREZGENE
  A8K4A5 ENTREZGENE, UniProtKB/TrEMBL
  ANPRC_HUMAN UniProtKB/Swiss-Prot
  B4DT84 ENTREZGENE
  C9JK69 ENTREZGENE, UniProtKB/TrEMBL
  D6RDL8_HUMAN UniProtKB/TrEMBL
  E7EPG9 ENTREZGENE
  H0Y9B9_HUMAN UniProtKB/TrEMBL
  P17342 ENTREZGENE
  Q60I31 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary A2RRD1 UniProtKB/Swiss-Prot
  B4DT84 UniProtKB/Swiss-Prot
  E7EPG9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-05 NPR3  natriuretic peptide receptor 3  C5orf23  chromosome 5 open reading frame 23  Data merged from RGD:1606242 737654 PROVISIONAL
2014-03-05 NPR3  natriuretic peptide receptor 3    natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)  Symbol and/or name change 5135510 APPROVED