C3 (complement C3) - Rat Genome Database

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Gene: C3 (complement C3) Homo sapiens
Analyze
Symbol: C3
Name: complement C3
RGD ID: 735504
HGNC Page HGNC
Description: Enables C5L2 anaphylatoxin chemotactic receptor binding activity. Involved in several processes, including positive regulation of macromolecule metabolic process; positive regulation of transport; and regulation of triglyceride biosynthetic process. Located in extracellular space. Implicated in several diseases, including COVID-19; complement deficiency (multiple); macular degeneration (multiple); paroxysmal nocturnal hemoglobinuria; and sickle cell anemia. Biomarker of several diseases, including artery disease (multiple); autoimmune disease (multiple); eye disease (multiple); glomerulonephritis (multiple); and lung disease (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: acylation-stimulating protein cleavage product; AHUS5; ARMD9; ASP; C3 and PZP-like alpha-2-macroglobulin domain-containing protein 1; C3a; C3a anaphylatoxin; C3b; complement component 3; complement component C3; complement component C3a; complement component C3b; CPAMD1; epididymis secretory sperm binding protein Li 62p; HEL-S-62p; prepro-C3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: C3P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl196,677,704 - 6,730,562 (-)EnsemblGRCh38hg38GRCh38
GRCh38196,677,704 - 6,720,650 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37196,677,715 - 6,720,661 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36196,628,846 - 6,671,662 (-)NCBINCBI36hg18NCBI36
Build 34196,628,877 - 6,671,660NCBI
Celera196,619,402 - 6,662,926 (-)NCBI
Cytogenetic Map19p13.3NCBI
HuRef196,440,030 - 6,483,146 (-)NCBIHuRef
CHM1_1196,678,095 - 6,720,521 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
acute kidney failure  (EXP)
Acute Lung Injury  (ISO)
acute myocardial infarction  (IEP)
adult respiratory distress syndrome  (IEP)
age related macular degeneration 7  (IAGP)
age related macular degeneration 9  (IAGP)
Alzheimer's disease  (IAGP)
amyotrophic lateral sclerosis  (ISO)
anterior uveitis  (IEP,ISO)
arteriolosclerosis  (IEP)
asthma  (IAGP,IEP,ISO)
atopic dermatitis  (IEP)
atypical hemolytic-uremic syndrome  (EXP,IAGP,ISO)
autosomal recessive polycystic kidney disease  (IEP,ISO)
bacterial pneumonia  (ISO)
boutonneuse fever  (IEP)
Brain Injuries  (ISO)
brain ischemia  (ISO)
Carcinoma, Lewis Lung  (ISO)
Cerebral Hemorrhage  (ISO)
Chemical and Drug Induced Liver Injury  (EXP)
Chronic Allograft Dysfunction  (ISO)
chronic obstructive pulmonary disease  (IEP)
complement component 3 deficiency  (IAGP)
congenital hemolytic anemia  (IAGP)
conjunctivitis  (IEP)
COVID-19  (IAGP,IEP)
Diabetic Nephropathies  (ISO)
Drug-Related Side Effects and Adverse Reactions  (EXP)
erythema nodosum  (IEP)
Experimental Arthritis  (ISO)
Experimental Autoimmune Encephalomyelitis  (ISO)
Experimental Autoimmune Myasthenia Gravis  (ISO)
Experimental Autoimmune Uveoretinitis  (ISO)
factor VIII deficiency  (IEP)
Fuchs' endothelial dystrophy  (IEP)
glomerulonephritis  (ISO)
Hematuria  (IEP)
Henoch-Schoenlein purpura  (EXP)
hepatocellular carcinoma  (ISO)
herpes simplex  (ISO)
Herpesviridae Infections  (ISO)
high grade glioma  (ISO)
human immunodeficiency virus infectious disease  (IEP)
Human Influenza  (ISO)
Hyperalgesia  (ISO)
hypertension  (ISO)
IgA glomerulonephritis  (IEP)
Insulin Resistance  (EXP)
Kidney Reperfusion Injury  (ISO)
Kuhnt-Junius degeneration  (IAGP)
leishmaniasis  (ISO)
lepromatous leprosy  (IEP)
Liver Reperfusion Injury  (ISO)
lung disease  (ISO)
lupus nephritis  (IEP)
macular degeneration  (EXP,IAGP,ISO)
mastitis  (ISO)
melanoma  (ISO)
membranoproliferative glomerulonephritis  (IAGP)
membranous glomerulonephritis  (EXP,ISO)
Meningococcal Infections  (IEP)
Metabolic Syndrome  (IEP)
middle cerebral artery infarction  (EXP,ISO)
myocardial infarction  (ISO)
Myocardial Reperfusion Injury  (ISO)
obesity  (ISO)
ocular hypertension  (IEP)
Optic Nerve Injuries  (ISO)
otitis media  (ISO)
Otitis Media with Effusion  (IEP)
Paratuberculosis  (EXP)
paroxysmal nocturnal hemoglobinuria  (IDA)
pemphigus  (EXP)
pleurisy  (ISO)
Pneumococcal Pneumonia  (IEP,ISO)
pneumocystosis  (ISO)
pneumonia  (ISO)
pre-eclampsia  (ISO)
primary immunodeficiency disease  (EXP)
primary ovarian insufficiency  (IAGP)
pulmonary eosinophilia  (ISO)
pulmonary sarcoidosis  (IEP)
pulmonary tuberculosis  (IEP)
Radiation Pneumonitis  (IEP)
Refractory Anemia with Excess of Blasts  (IEP)
Reperfusion Injury  (ISO)
retinal degeneration  (ISO)
rheumatoid arthritis  (IEP)
rhinitis  (IEP,ISO)
Rhinosinusitis  (IEP)
sciatic neuropathy  (ISO)
Sepsis  (ISO)
sickle cell anemia  (IDA,IEP)
silicosis  (IAGP)
Sjogren's syndrome  (ISO)
Subarachnoid Hemorrhage  (ISO)
systemic lupus erythematosus  (IDA)
systemic scleroderma  (IEP)
thrombophilia  (ISO)
Thrombotic Microangiopathies  (ISO)
transient cerebral ischemia  (EXP,ISO)
tropical spastic paraparesis  (IEP)
type 1 diabetes mellitus  (IEP)
type 2 diabetes mellitus  (EXP)
Viral Bronchiolitis  (IAGP,ISO)
vitiligo  (ISO)
Wounds, Penetrating  (IDA)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP)
(S)-colchicine  (ISO)
1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane  (ISO)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
1-Hydroxypyrene  (EXP)
1-naphthyl isothiocyanate  (EXP)
17alpha-ethynylestradiol  (EXP,ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,4-dichloroaniline  (EXP,ISO)
3-methylcholanthrene  (EXP,ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
4-tert-Octylphenol  (ISO)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (ISO)
9-phenanthrol  (EXP)
acetamide  (ISO)
afimoxifene  (ISO)
aflatoxin B1  (EXP)
aldehydo-D-glucose  (ISO)
aluminium oxide  (ISO)
ammonium chloride  (ISO)
amphibole asbestos  (ISO)
antirheumatic drug  (EXP)
aristolochic acid  (EXP,ISO)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
atorvastatin calcium  (ISO)
benzalkonium chloride  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
bexarotene  (ISO)
bis(2-chloroethyl) sulfide  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
cadmium atom  (EXP)
cadmium dichloride  (ISO)
calciol  (ISO)
carbon nanotube  (EXP,ISO)
chlordecone  (ISO)
chlorpromazine  (EXP)
chlorpyrifos  (ISO)
chondroitin sulfate  (EXP)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP,ISO)
cobalt dichloride  (EXP)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
corticosterone  (ISO)
crocidolite asbestos  (EXP)
Cuprizon  (ISO)
curcumin  (ISO)
cyclophosphamide  (ISO)
cyclosporin A  (EXP,ISO)
cylindrospermopsin  (ISO)
D-glucose  (ISO)
D-penicillamine  (ISO)
daidzein  (ISO)
danazol  (EXP)
deoxynivalenol  (ISO)
dexamethasone  (ISO)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
diethyl malate  (ISO)
diethylstilbestrol  (ISO)
dioxygen  (ISO)
diuron  (EXP,ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
endosulfan  (ISO)
entinostat  (EXP)
fenvalerate  (EXP)
ferulic acid  (ISO)
flutamide  (ISO)
folic acid  (EXP,ISO)
fulvestrant  (EXP,ISO)
furan  (ISO)
genistein  (EXP,ISO)
gentamycin  (ISO)
glucose  (ISO)
glycidol  (ISO)
glyphosate  (ISO)
gold atom  (EXP)
gold(0)  (EXP)
GW 4064  (ISO)
heparin  (EXP)
hydrazine  (ISO)
hydrogen peroxide  (EXP)
ibuprofen  (EXP)
isoflavones  (ISO)
isoprenaline  (EXP,ISO)
isotretinoin  (EXP)
ivermectin  (EXP)
L-ascorbic acid  (ISO)
lead(0)  (EXP)
lead(2+)  (EXP)
levonorgestrel  (ISO)
lipopolysaccharide  (ISO)
magnesium atom  (ISO)
mangiferin  (ISO)
medroxyprogesterone acetate  (ISO)
mercury atom  (EXP)
mercury dichloride  (ISO)
mercury(0)  (EXP)
methacholine chloride  (ISO)
methotrexate  (EXP,ISO)
methoxychlor  (ISO)
methylmercury chloride  (ISO)
methyltestosterone  (EXP)
mifepristone  (ISO)
Mizoribine  (ISO)
mycotoxin  (ISO)
N-acetyl-L-cysteine  (ISO)
N-Acetyl-S-(1,2-dichlorovinyl)-cysteine  (EXP)
N-ethyl-N-nitrosourea  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
neoechinulin A  (ISO)
nickel atom  (EXP)
nickel dichloride  (ISO)
nickel subsulfide  (ISO)
nilotinib  (ISO)
nitrofen  (ISO)
nitroglycerin  (EXP)
Nonylphenol  (ISO)
olanzapine  (EXP)
ozone  (ISO)
p-tert-Amylphenol  (ISO)
paclitaxel  (ISO)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
PCB138  (ISO)
pemetrexed  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP,ISO)
phenobarbital  (EXP,ISO)
pirinixic acid  (ISO)
poly(styrene)  (EXP)
potassium chromate  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
procymidone  (ISO)
progesterone  (ISO)
propofol  (EXP)
raloxifene  (ISO)
reactive oxygen species  (ISO)
reserpine  (ISO)
resveratrol  (EXP,ISO)
rofecoxib  (EXP)
rosuvastatin calcium  (ISO)
rotenone  (ISO)
SB 431542  (EXP)
serpentine asbestos  (EXP)
silicon dioxide  (EXP)
sirolimus  (ISO)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
Soman  (ISO)
sophoraflavanone B  (ISO)
succimer  (ISO)
sulforaphane  (EXP)
tacrolimus hydrate  (ISO)
tamoxifen  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
thalidomide  (EXP)
titanium dioxide  (ISO)
toluene  (ISO)
trichloroethene  (ISO)
triclosan  (EXP,ISO)
trimegestone  (ISO)
trimellitic anhydride  (ISO)
Triptolide  (ISO)
troglitazone  (EXP)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vinclozolin  (ISO)
zearalenone  (ISO)
zinc atom  (EXP)
zinc dichloride  (EXP)
zinc sulfate  (ISO)
zinc(0)  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
amyloid-beta clearance  (ISS)
blood coagulation  (ISO)
cell surface receptor signaling pathway involved in cell-cell signaling  (IEA)
complement activation  (IBA,IEA,IMP,ISO)
complement activation, alternative pathway  (IEA)
complement activation, classical pathway  (IEA)
complement-dependent cytotoxicity  (IEA,ISO)
complement-mediated synapse pruning  (ISS)
fatty acid metabolic process  (IEA)
G protein-coupled receptor signaling pathway  (TAS)
immune response  (TAS)
inflammatory response  (IEA)
innate immune response  (ISO)
negative regulation of endopeptidase activity  (IEA)
neuron remodeling  (ISS)
oviduct epithelium development  (IEA,ISO)
positive regulation of activation of membrane attack complex  (IEA)
positive regulation of angiogenesis  (IEA)
positive regulation of apoptotic cell clearance  (IMP)
positive regulation of developmental growth  (ISO)
positive regulation of ERK1 and ERK2 cascade  (ISO)
positive regulation of G protein-coupled receptor signaling pathway  (IDA)
positive regulation of glucose transmembrane transport  (IDA)
positive regulation of lipid storage  (IDA)
positive regulation of phagocytosis  (ISO)
positive regulation of phagocytosis, engulfment  (ISS)
positive regulation of protein phosphorylation  (IDA)
positive regulation of receptor-mediated endocytosis  (ISS)
positive regulation of type IIa hypersensitivity  (IEA,ISO)
positive regulation of vascular endothelial growth factor production  (IDA)
regulation of triglyceride biosynthetic process  (IDA)
response to bacterium  (IEA,ISO)
response to estradiol  (ISO)
response to estrogen  (ISO)
response to glucocorticoid  (ISO)
response to magnesium ion  (ISO)
response to paclitaxel  (ISO)
response to progesterone  (ISO)
retina development in camera-type eye  (ISO)
signal transduction  (TAS)
tolerance induction  (ISO)
vascular associated smooth muscle cell differentiation  (ISO)
vertebrate eye-specific patterning  (ISS)

Cellular Component

Molecular Function

References

References - curated
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Additional References at PubMed
PMID:162484   PMID:279011   PMID:1238393   PMID:1323007   PMID:1350678   PMID:1401896   PMID:1531292   PMID:1577777   PMID:1703437   PMID:1717583   PMID:1830068   PMID:1861080  
PMID:1976733   PMID:2387584   PMID:2473125   PMID:2579379   PMID:2584723   PMID:2824652   PMID:3052276   PMID:3260670   PMID:3279119   PMID:3421908   PMID:3488995   PMID:3546307  
PMID:3871945   PMID:4062888   PMID:4097977   PMID:6175959   PMID:6203109   PMID:6912277   PMID:7483825   PMID:7512600   PMID:7535292   PMID:7539791   PMID:7590866   PMID:7642209  
PMID:7893437   PMID:7911492   PMID:7961791   PMID:8406564   PMID:8416818   PMID:8471312   PMID:8630395   PMID:8648130   PMID:8702752   PMID:8845016   PMID:8943712   PMID:9059512  
PMID:9164946   PMID:9291131   PMID:9544576   PMID:9555951   PMID:9596584   PMID:9605165   PMID:9719152   PMID:9988761   PMID:10078261   PMID:10079271   PMID:10085065   PMID:10358196  
PMID:10382758   PMID:10432298   PMID:10608878   PMID:10610782   PMID:10622723   PMID:10882776   PMID:10946275   PMID:11058592   PMID:11073102   PMID:11086104   PMID:11342658   PMID:11367533  
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Genomics

Comparative Map Data
C3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl196,677,704 - 6,730,562 (-)EnsemblGRCh38hg38GRCh38
GRCh38196,677,704 - 6,720,650 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37196,677,715 - 6,720,661 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36196,628,846 - 6,671,662 (-)NCBINCBI36hg18NCBI36
Build 34196,628,877 - 6,671,660NCBI
Celera196,619,402 - 6,662,926 (-)NCBI
Cytogenetic Map19p13.3NCBI
HuRef196,440,030 - 6,483,146 (-)NCBIHuRef
CHM1_1196,678,095 - 6,720,521 (-)NCBICHM1_1
C3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391757,510,967 - 57,535,136 (-)NCBIGRCm39mm39
GRCm39 Ensembl1757,510,970 - 57,535,136 (-)Ensembl
GRCm381757,203,967 - 57,228,136 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1757,203,970 - 57,228,136 (-)EnsemblGRCm38mm10GRCm38
MGSCv371757,343,396 - 57,367,559 (-)NCBIGRCm37mm9NCBIm37
MGSCv361756,889,309 - 56,913,426 (-)NCBImm8
Celera1761,551,995 - 61,576,136 (-)NCBICelera
Cytogenetic Map17DNCBI
cM Map1729.72NCBI
C3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.292,087,437 - 2,114,366 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl92,087,437 - 2,114,429 (-)Ensembl
Rnor_6.099,721,137 - 9,747,084 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl99,721,105 - 9,747,167 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.098,728,465 - 8,754,412 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera96,407,133 - 6,432,968 (+)NCBICelera
Cytogenetic Map9q12NCBI
C3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554952,796,663 - 2,824,697 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554952,796,601 - 2,824,233 (+)NCBIChiLan1.0ChiLan1.0
C3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1196,629,240 - 6,674,786 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl196,629,287 - 6,674,699 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0195,708,211 - 5,753,178 (-)NCBIMhudiblu_PPA_v0panPan3
C3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12053,566,226 - 53,598,365 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2053,566,261 - 53,598,761 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2053,314,550 - 53,347,112 (+)NCBI
ROS_Cfam_1.02054,220,548 - 54,253,547 (+)NCBI
UMICH_Zoey_3.12053,287,896 - 53,320,436 (+)NCBI
UNSW_CanFamBas_1.02053,735,894 - 53,768,908 (+)NCBI
UU_Cfam_GSD_1.02053,965,350 - 53,997,908 (+)NCBI
C3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118213,824,886 - 213,849,048 (+)NCBI
SpeTri2.0NW_0049365883,985,732 - 4,023,221 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
C3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl272,431,499 - 72,528,112 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1272,431,470 - 72,471,622 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2272,762,013 - 72,820,437 (+)NCBISscrofa10.2Sscrofa10.2susScr3
Sscrofa10.2272,950,572 - 72,957,968 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Pig Cytomap2qNCBI
C3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.166,250,422 - 6,289,264 (-)NCBIChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660811,706,107 - 1,746,127 (+)NCBIVero_WHO_p1.0
C3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248283,773,816 - 3,798,077 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
RH45403  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37196,677,909 - 6,678,245UniSTSGRCh37
Build 36196,628,909 - 6,629,245RGDNCBI36
Celera196,619,465 - 6,619,801RGD
Celera198,727,408 - 8,727,616UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
HuRef196,440,093 - 6,440,429UniSTS
GeneMap99-GB4 RH Map1940.35UniSTS
RH80210  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37196,682,166 - 6,682,372UniSTSGRCh37
Build 36196,633,166 - 6,633,372RGDNCBI36
Celera196,623,724 - 6,623,930RGD
Cytogenetic Map19p13.3-p13.2UniSTS
HuRef196,444,354 - 6,444,560UniSTS
GeneMap99-GB4 RH Map1952.59UniSTS
GDB:177904  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37196,718,138 - 6,718,423UniSTSGRCh37
Build 36196,669,138 - 6,669,423RGDNCBI36
Celera196,659,691 - 6,659,976RGD
Cytogenetic Map19p13.3-p13.2UniSTS
HuRef196,480,622 - 6,480,907UniSTS
SGC31874  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37196,677,856 - 6,677,981UniSTSGRCh37
Build 36196,628,856 - 6,628,981RGDNCBI36
Celera196,619,412 - 6,619,537RGD
Cytogenetic Map19p13.3-p13.2UniSTS
HuRef196,440,040 - 6,440,165UniSTS
GeneMap99-GB4 RH Map1940.35UniSTS
Whitehead-RH Map1925.8UniSTS
RH11718  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37196,677,956 - 6,678,264UniSTSGRCh37
Build 36196,628,956 - 6,629,264RGDNCBI36
Celera196,619,512 - 6,619,820RGD
Celera198,727,389 - 8,727,569UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
HuRef196,440,140 - 6,440,448UniSTS
GeneMap99-GB4 RH Map1940.35UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4399
Count of miRNA genes:1016
Interacting mature miRNAs:1302
Transcripts:ENST00000245907, ENST00000594005, ENST00000594270, ENST00000594936, ENST00000595577, ENST00000596179, ENST00000596238, ENST00000596548, ENST00000597442, ENST00000598805, ENST00000599668, ENST00000599899, ENST00000600744, ENST00000600763, ENST00000601008, ENST00000601475, ENST00000602053, ENST00000602229
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 70 46 360 343 8 341 31 44 5 15 102 31 2 263 3
Medium 2217 2143 1263 274 345 117 3949 1968 2361 270 1202 1416 168 941 2660 1
Low 98 639 97 6 1092 5 319 165 1321 130 138 82 3 1 125 4 2
Below cutoff 52 161 6 1 481 2 54 18 47 4 15 81 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA025232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI758500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY513239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC150179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC150200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC150299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP201387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP349355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ985770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU794602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J04763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  K02765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC493376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC493377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M55658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M63423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000245907   ⟹   ENSP00000245907
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl196,677,704 - 6,720,650 (-)Ensembl
RefSeq Acc Id: ENST00000594005
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl196,696,614 - 6,697,715 (-)Ensembl
RefSeq Acc Id: ENST00000594270
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl196,712,280 - 6,713,315 (-)Ensembl
RefSeq Acc Id: ENST00000594936
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl196,718,034 - 6,720,650 (-)Ensembl
RefSeq Acc Id: ENST00000595577
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl196,712,316 - 6,714,351 (-)Ensembl
RefSeq Acc Id: ENST00000596179
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl196,684,233 - 6,684,632 (-)Ensembl
RefSeq Acc Id: ENST00000596238
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl196,684,560 - 6,686,376 (-)Ensembl
RefSeq Acc Id: ENST00000596548   ⟹   ENSP00000469744
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl196,680,159 - 6,685,038 (-)Ensembl
RefSeq Acc Id: ENST00000597442
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl196,712,307 - 6,713,788 (-)Ensembl
RefSeq Acc Id: ENST00000598805
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl196,686,289 - 6,693,083 (-)Ensembl
RefSeq Acc Id: ENST00000599668
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl196,677,867 - 6,680,151 (-)Ensembl
RefSeq Acc Id: ENST00000599899
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl196,677,841 - 6,683,360 (-)Ensembl
RefSeq Acc Id: ENST00000600744   ⟹   ENSP00000472044
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl196,718,247 - 6,730,562 (-)Ensembl
RefSeq Acc Id: ENST00000600763
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl196,709,756 - 6,710,957 (-)Ensembl
RefSeq Acc Id: ENST00000601008   ⟹   ENSP00000471384
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl196,677,897 - 6,690,712 (-)Ensembl
RefSeq Acc Id: ENST00000601475
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl196,677,835 - 6,678,330 (-)Ensembl
RefSeq Acc Id: ENST00000602053
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl196,697,662 - 6,702,872 (-)Ensembl
RefSeq Acc Id: ENST00000602229   ⟹   ENSP00000469482
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl196,677,864 - 6,679,201 (-)Ensembl
RefSeq Acc Id: NM_000064   ⟹   NP_000055
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38196,677,704 - 6,720,650 (-)NCBI
GRCh37196,677,846 - 6,720,662 (-)ENTREZGENE
Build 36196,628,846 - 6,671,662 (-)NCBI Archive
HuRef196,440,030 - 6,483,146 (-)ENTREZGENE
CHM1_1196,678,095 - 6,720,552 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000055   ⟸   NM_000064
- Peptide Label: preproprotein
- UniProtKB: P01024 (UniProtKB/Swiss-Prot),   B4DR57 (UniProtKB/TrEMBL),   V9HWA9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000469744   ⟸   ENST00000596548
RefSeq Acc Id: ENSP00000245907   ⟸   ENST00000245907
RefSeq Acc Id: ENSP00000472044   ⟸   ENST00000600744
RefSeq Acc Id: ENSP00000471384   ⟸   ENST00000601008
RefSeq Acc Id: ENSP00000469482   ⟸   ENST00000602229
Protein Domains
A2M_recep   Anaphylatoxin-like   MG1   MG2   NTR   TED_complement

Promoters
RGD ID:6811515
Promoter ID:HG_ACW:39526
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:C3.MAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 36196,628,831 - 6,629,331 (-)MPROMDB
RGD ID:6814630
Promoter ID:HG_XEF:3836
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:NM_009778
Position:
Human AssemblyChrPosition (strand)Source
Build 36196,670,126 - 6,670,626 (-)MPROMDB
RGD ID:6795230
Promoter ID:HG_KWN:28676
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000317636,   OTTHUMT00000317641
Position:
Human AssemblyChrPosition (strand)Source
Build 36196,671,376 - 6,671,876 (-)MPROMDB
RGD ID:6795229
Promoter ID:HG_KWN:28677
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562
Transcripts:OTTHUMT00000317638
Position:
Human AssemblyChrPosition (strand)Source
Build 36196,681,154 - 6,681,654 (-)MPROMDB
RGD ID:7238235
Promoter ID:EPDNEW_H24864
Type:initiation region
Name:C3_1
Description:complement C3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24865  EPDNEW_H24869  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38196,720,650 - 6,720,710EPDNEW
RGD ID:7238241
Promoter ID:EPDNEW_H24865
Type:initiation region
Name:C3_2
Description:complement C3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24864  EPDNEW_H24869  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38196,730,592 - 6,730,652EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000064.4(C3):c.304C>G (p.Arg102Gly) single nucleotide variant Age-related macular degeneration 9 [RCV000395565]|C3S/C3F POLYMORPHISM [RCV000018585]|MACULAR DEGENERATION, AGE-RELATED, 9, SUSCEPTIBILITY TO [RCV000018584]|not provided [RCV001521403] Chr19:6718376 [GRCh38]
Chr19:6718387 [GRCh37]
Chr19:19p13.3
risk factor|benign
NM_000064.4(C3):c.941C>T (p.Pro314Leu) single nucleotide variant Age-related macular degeneration 9 [RCV000321048]|Atypical hemolytic-uremic syndrome 5 [RCV000286026]|C3 POLYMORPHISM, HAV 4-1 PLUS/MINUS TYPE [RCV000018586]|Complement component 3 deficiency, autosomal recessive [RCV000380392]|not provided [RCV001515572] Chr19:6713251 [GRCh38]
Chr19:6713262 [GRCh37]
Chr19:19p13.3
benign
C3, 61-BP DEL, EX18 deletion C3 deficiency [RCV000018587] Chr19:19p13.3-p13.2 pathogenic
NC_000019.10:g.(6695981_6695999)_(6696810_6696831)del deletion C3 deficiency [RCV000018588] Chr19:6695999..6696810 [GRCh38]
Chr19:6696010..6696821 [GRCh37]
Chr19:19p13.3-p13.2
pathogenic
NM_000064.4(C3):c.1775G>A (p.Arg592Gln) single nucleotide variant Atypical hemolytic-uremic syndrome 5 [RCV000018589]|not provided [RCV001507917] Chr19:6709754 [GRCh38]
Chr19:6709765 [GRCh37]
Chr19:19p13.3
pathogenic|likely pathogenic|risk factor
NM_000064.4(C3):c.3281C>T (p.Ala1094Val) single nucleotide variant Atypical hemolytic-uremic syndrome 5 [RCV000018590] Chr19:6693033 [GRCh38]
Chr19:6693044 [GRCh37]
Chr19:19p13.3
risk factor
NM_000064.4(C3):c.3343G>A (p.Asp1115Asn) single nucleotide variant Atypical hemolytic-uremic syndrome 5 [RCV000018591] Chr19:6692971 [GRCh38]
Chr19:6692982 [GRCh37]
Chr19:19p13.3
risk factor|uncertain significance
NM_000064.4(C3):c.2562C>G (p.Tyr854Ter) single nucleotide variant Atypical hemolytic-uremic syndrome 5 [RCV000018592] Chr19:6697673 [GRCh38]
Chr19:6697684 [GRCh37]
Chr19:19p13.3
risk factor
NM_000064.4(C3):c.4631-2A>G single nucleotide variant C3 deficiency [RCV000018593] Chr19:6678457 [GRCh38]
Chr19:6678468 [GRCh37]
Chr19:19p13.3
pathogenic
NM_000064.4(C3):c.3284T>A (p.Ile1095Asn) single nucleotide variant not provided [RCV001507915] Chr19:6693030 [GRCh38]
Chr19:6693041 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_000064.4(C3):c.463A>C (p.Lys155Gln) single nucleotide variant Age-related macular degeneration 9 [RCV000765476]|Age-related macular degeneration 9 [RCV001130002]|Atypical hemolytic-uremic syndrome 5 [RCV001130001]|Complement component 3 deficiency, autosomal recessive [RCV001130000]|MACULAR DEGENERATION, AGE-RELATED, 9, SUSCEPTIBILITY TO [RCV000077796]|not provided [RCV000963525]|not specified [RCV000202831] Chr19:6718135 [GRCh38]
Chr19:6718146 [GRCh37]
Chr19:19p13.3
risk factor|benign|likely benign|uncertain significance
GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3 copy number gain See cases [RCV000052879] Chr19:1972245..9648879 [GRCh38]
Chr19:1972244..9759555 [GRCh37]
Chr19:1923244..9620555 [NCBI36]
Chr19:19p13.3-13.2
pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:4039158-9176125)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052881]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052881]|See cases [RCV000052881] Chr19:4039158..9176125 [GRCh38]
Chr19:4039156..9286801 [GRCh37]
Chr19:3990156..9147801 [NCBI36]
Chr19:19p13.3-13.2
pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:265917-8564134)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|See cases [RCV000052876] Chr19:265917..8564134 [GRCh38]
Chr19:265917..8629018 [GRCh37]
Chr19:216917..8535018 [NCBI36]
Chr19:19p13.3-13.2
pathogenic
NM_000064.3(C3):c.4585C>T (p.Leu1529=) single nucleotide variant Malignant melanoma [RCV000072435] Chr19:6679170 [GRCh38]
Chr19:6679181 [GRCh37]
Chr19:6630181 [NCBI36]
Chr19:19p13.3
not provided
NM_000064.3(C3):c.4063C>T (p.Gln1355Ter) single nucleotide variant Malignant melanoma [RCV000072436] Chr19:6684617 [GRCh38]
Chr19:6684628 [GRCh37]
Chr19:6635628 [NCBI36]
Chr19:19p13.3
not provided
NM_000064.3(C3):c.536C>T (p.Ser179Phe) single nucleotide variant Malignant melanoma [RCV000072437] Chr19:6714415 [GRCh38]
Chr19:6714426 [GRCh37]
Chr19:6665426 [NCBI36]
Chr19:19p13.3
not provided
NM_000064.3(C3):c.4459G>A (p.Glu1487Lys) single nucleotide variant Malignant melanoma [RCV000063660] Chr19:6679494 [GRCh38]
Chr19:6679505 [GRCh37]
Chr19:6630505 [NCBI36]
Chr19:19p13.3
not provided
NM_000064.3(C3):c.3752C>T (p.Pro1251Leu) single nucleotide variant Malignant melanoma [RCV000063661] Chr19:6686182 [GRCh38]
Chr19:6686193 [GRCh37]
Chr19:6637193 [NCBI36]
Chr19:19p13.3
not provided
NM_000064.3(C3):c.2291G>A (p.Arg764Gln) single nucleotide variant Malignant melanoma [RCV000063662] Chr19:6702534 [GRCh38]
Chr19:6702545 [GRCh37]
Chr19:6653545 [NCBI36]
Chr19:19p13.3
not provided
NM_000064.4(C3):c.562G>A (p.Val188Ile) single nucleotide variant not provided [RCV001367716] Chr19:6714389 [GRCh38]
Chr19:6714400 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_000064.4(C3):c.4667A>G (p.Asn1556Ser) single nucleotide variant not provided [RCV001312779] Chr19:6678419 [GRCh38]
Chr19:6678430 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_004837.4(GGPS1):c.782G>A (p.Arg261His) AND MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, single nucleotide variant Age-related macular degeneration 9 [RCV001554404]|Complement component 3 deficiency, autosomal recessive [RCV001554403]|not provided [RCV001638167] Chr19:6697818 [GRCh38]
Chr19:6697829 [GRCh37]
Chr19:19p13.3
benign
GRCh38/hg38 19p13.3-13.2(chr19:5905175-6916287)x3 copy number gain See cases [RCV000139338] Chr19:5905175..6916287 [GRCh38]
Chr19:5905186..6916298 [GRCh37]
Chr19:5856186..6867298 [NCBI36]
Chr19:19p13.3-13.2
uncertain significance
GRCh38/hg38 19p13.3(chr19:259395-6795611)x3 copy number gain See cases [RCV000142627] Chr19:259395..6795611 [GRCh38]
Chr19:259395..6795622 [GRCh37]
Chr19:210395..6746622 [NCBI36]
Chr19:19p13.3
pathogenic
NM_000064.4(C3):c.640C>T (p.Pro214Ser) single nucleotide variant Atypical hemolytic-uremic syndrome 5 [RCV000184049] Chr19:6714208 [GRCh38]
Chr19:6714219 [GRCh37]
Chr19:19p13.3
likely pathogenic
NM_000064.4(C3):c.3811-73C>G single nucleotide variant not provided [RCV000190315] Chr19:6685219 [GRCh38]
Chr19:6685230 [GRCh37]
Chr19:19p13.3
benign|not provided
NM_000064.4(C3):c.1273C>T (p.Arg425Cys) single nucleotide variant not provided [RCV000520102] Chr19:6711193 [GRCh38]
Chr19:6711204 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_000064.4(C3):c.4767G>A (p.Lys1589=) single nucleotide variant Age-related macular degeneration 9 [RCV000361583]|Atypical hemolytic-uremic syndrome 5 [RCV000266935]|Complement component 3 deficiency, autosomal recessive [RCV000322076]|not provided [RCV000907622] Chr19:6678235 [GRCh38]
Chr19:6678246 [GRCh37]
Chr19:19p13.3
benign|likely benign|uncertain significance
NM_000064.4(C3):c.4896C>T (p.Pro1632=) single nucleotide variant Age-related macular degeneration 9 [RCV000323725]|Atypical hemolytic-uremic syndrome 5 [RCV000378258]|Complement component 3 deficiency, autosomal recessive [RCV000283840]|not provided [RCV001516630]|not specified [RCV001529090] Chr19:6677978 [GRCh38]
Chr19:6677989 [GRCh37]
Chr19:19p13.3
benign
NM_000064.4(C3):c.1692G>A (p.Val564=) single nucleotide variant Age-related macular degeneration 9 [RCV000395652]|Atypical hemolytic-uremic syndrome 5 [RCV000358237]|Complement component 3 deficiency, autosomal recessive [RCV000303712]|not provided [RCV001519273] Chr19:6709837 [GRCh38]
Chr19:6709848 [GRCh37]
Chr19:19p13.3
benign
NM_000064.4(C3):c.4631-9C>T single nucleotide variant Age-related macular degeneration 9 [RCV000304328]|Atypical hemolytic-uremic syndrome 5 [RCV000399157]|Complement component 3 deficiency, autosomal recessive [RCV000359050]|not provided [RCV000964033] Chr19:6678464 [GRCh38]
Chr19:6678475 [GRCh37]
Chr19:19p13.3
benign|likely benign
NM_000064.4(C3):c.1119+14C>T single nucleotide variant Age-related macular degeneration 9 [RCV000269291]|Atypical hemolytic-uremic syndrome 5 [RCV000313893]|Complement component 3 deficiency, autosomal recessive [RCV000363891] Chr19:6712494 [GRCh38]
Chr19:6712505 [GRCh37]
Chr19:19p13.3
benign|likely benign|uncertain significance
NM_000064.4(C3):c.3753C>A (p.Pro1251=) single nucleotide variant Age-related macular degeneration 9 [RCV000379168]|Atypical hemolytic-uremic syndrome 5 [RCV000287097]|Complement component 3 deficiency, autosomal recessive [RCV000326797]|not provided [RCV000972947] Chr19:6686181 [GRCh38]
Chr19:6686192 [GRCh37]
Chr19:19p13.3
benign
NM_000064.4(C3):c.4941G>A (p.Gln1647=) single nucleotide variant Age-related macular degeneration 9 [RCV000287361]|Atypical hemolytic-uremic syndrome 5 [RCV000381549]|Complement component 3 deficiency, autosomal recessive [RCV000326976] Chr19:6677933 [GRCh38]
Chr19:6677944 [GRCh37]
Chr19:19p13.3
likely benign|uncertain significance
NM_000064.4(C3):c.1758G>A (p.Glu586=) single nucleotide variant Age-related macular degeneration 9 [RCV000288369]|Atypical hemolytic-uremic syndrome 5 [RCV000347980]|Complement component 3 deficiency, autosomal recessive [RCV000395644] Chr19:6709771 [GRCh38]
Chr19:6709782 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_000064.4(C3):c.2799G>A (p.Pro933=) single nucleotide variant Age-related macular degeneration 9 [RCV000290612]|Atypical hemolytic-uremic syndrome 5 [RCV000347863]|Complement component 3 deficiency, autosomal recessive [RCV000387056]|not provided [RCV001519032] Chr19:6696657 [GRCh38]
Chr19:6696668 [GRCh37]
Chr19:19p13.3
benign|likely benign|uncertain significance
NM_000064.4(C3):c.2430G>A (p.Ser810=) single nucleotide variant Age-related macular degeneration 9 [RCV000383997]|Atypical hemolytic-uremic syndrome 5 [RCV000274411]|Complement component 3 deficiency, autosomal recessive [RCV000331724]|not provided [RCV001519270] Chr19:6702137 [GRCh38]
Chr19:6702148 [GRCh37]
Chr19:19p13.3
benign
NM_000064.4(C3):c.2421G>C (p.Val807=) single nucleotide variant Age-related macular degeneration 9 [RCV000344527]|Atypical hemolytic-uremic syndrome 5 [RCV000291985]|Complement component 3 deficiency, autosomal recessive [RCV000382623]|not provided [RCV001519271]|not specified [RCV001529067] Chr19:6702146 [GRCh38]
Chr19:6702157 [GRCh37]
Chr19:19p13.3
benign
NM_000064.4(C3):c.4030-4C>T single nucleotide variant Age-related macular degeneration 9 [RCV000275490]|Atypical hemolytic-uremic syndrome 5 [RCV000367747]|Complement component 3 deficiency, autosomal recessive [RCV000315441] Chr19:6684654 [GRCh38]
Chr19:6684665 [GRCh37]
Chr19:19p13.3
benign|likely benign|uncertain significance
NM_000064.4(C3):c.2048-14_2048-13del microsatellite Atypical hemolytic uremic syndrome [RCV000295260]|C3 deficiency [RCV000334669]|Macular degeneration [RCV000396795]|not provided [RCV001522900] Chr19:6707286..6707287 [GRCh38]
Chr19:6707297..6707298 [GRCh37]
Chr19:19p13.3
benign
NM_000064.4(C3):c.4457-4G>A single nucleotide variant Age-related macular degeneration 9 [RCV000261116]|Atypical hemolytic-uremic syndrome 5 [RCV000389627]|Complement component 3 deficiency, autosomal recessive [RCV000316465]|not provided [RCV001516631]|not specified [RCV001528544] Chr19:6679500 [GRCh38]
Chr19:6679511 [GRCh37]
Chr19:19p13.3
benign
NM_000064.4(C3):c.2246-8C>T single nucleotide variant Age-related macular degeneration 9 [RCV000277187]|Atypical hemolytic-uremic syndrome 5 [RCV000297613]|Complement component 3 deficiency, autosomal recessive [RCV000369463]|not provided [RCV001519272]|not specified [RCV001528595] Chr19:6702587 [GRCh38]
Chr19:6702598 [GRCh37]
Chr19:19p13.3
benign
NM_000064.4(C3):c.2700C>G (p.Ile900Met) single nucleotide variant Age-related macular degeneration 9 [RCV000262667]|Atypical hemolytic-uremic syndrome 5 [RCV000301471]|Complement component 3 deficiency, autosomal recessive [RCV000354037] Chr19:6697440 [GRCh38]
Chr19:6697451 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_000064.4(C3):c.4535G>A (p.Arg1512His) single nucleotide variant Age-related macular degeneration 9 [RCV000355975]|Atypical hemolytic-uremic syndrome 5 [RCV000264234]|Complement component 3 deficiency, autosomal recessive [RCV000300709] Chr19:6679418 [GRCh38]
Chr19:6679429 [GRCh37]
Chr19:19p13.3
likely benign|uncertain significance
NM_000064.4(C3):c.1819A>G (p.Lys607Glu) single nucleotide variant Age-related macular degeneration 9 [RCV000375917]|Atypical hemolytic-uremic syndrome 5 [RCV000317944]|Complement component 3 deficiency, autosomal recessive [RCV000281611] Chr19:6709710 [GRCh38]
Chr19:6709721 [GRCh37]
Chr19:19p13.3
likely benign|uncertain significance
NM_000064.4(C3):c.3993A>G (p.Thr1331=) single nucleotide variant Age-related macular degeneration 9 [RCV000269438]|Atypical hemolytic-uremic syndrome 5 [RCV000328138]|Complement component 3 deficiency, autosomal recessive [RCV000366481] Chr19:6684811 [GRCh38]
Chr19:6684822 [GRCh37]
Chr19:19p13.3
benign|likely benign|uncertain significance
NM_000064.4(C3):c.2203C>T (p.Arg735Trp) single nucleotide variant Age-related macular degeneration 9 [RCV000269843]|Atypical hemolytic-uremic syndrome 5 [RCV000381202]|Complement component 3 deficiency, autosomal recessive [RCV000328876] Chr19:6707118 [GRCh38]
Chr19:6707129 [GRCh37]
Chr19:19p13.3
benign|likely benign|uncertain significance
NM_000064.4(C3):c.2907C>T (p.Asp969=) single nucleotide variant Age-related macular degeneration 9 [RCV000323045]|Atypical hemolytic-uremic syndrome 5 [RCV000270342]|Complement component 3 deficiency, autosomal recessive [RCV000362131]|not provided [RCV001442188] Chr19:6696422 [GRCh38]
Chr19:6696433 [GRCh37]
Chr19:19p13.3
likely benign|uncertain significance
NM_000064.4(C3):c.1873A>T (p.Ile625Phe) single nucleotide variant Age-related macular degeneration 9 [RCV000365239]|Atypical hemolytic-uremic syndrome 5 [RCV000398343]|Complement component 3 deficiency, autosomal recessive [RCV001029978] Chr19:6707902 [GRCh38]
Chr19:6707913 [GRCh37]
Chr19:19p13.3
benign|likely benign|uncertain significance
NM_000064.4(C3):c.4631-8C>T single nucleotide variant Age-related macular degeneration 9 [RCV000343663]|Atypical hemolytic-uremic syndrome 5 [RCV000399993]|Complement component 3 deficiency, autosomal recessive [RCV000307471]|not provided [RCV001521400] Chr19:6678463 [GRCh38]
Chr19:6678474 [GRCh37]
Chr19:19p13.3
benign
NM_000064.4(C3):c.2745T>C (p.Ala915=) single nucleotide variant Age-related macular degeneration 9 [RCV000394673]|Atypical hemolytic-uremic syndrome 5 [RCV000342250]|Complement component 3 deficiency, autosomal recessive [RCV000308367]|not provided [RCV001516633]|not specified [RCV001529342] Chr19:6697395 [GRCh38]
Chr19:6697406 [GRCh37]
Chr19:19p13.3
benign
NM_000064.4(C3):c.783C>T (p.Tyr261=) single nucleotide variant Age-related macular degeneration 9 [RCV000308536]|Atypical hemolytic-uremic syndrome 5 [RCV000396960]|Complement component 3 deficiency, autosomal recessive [RCV000352835]|not provided [RCV000962655] Chr19:6713500 [GRCh38]
Chr19:6713511 [GRCh37]
Chr19:19p13.3
benign|likely benign
NM_000064.4(C3):c.2245+15G>A single nucleotide variant Age-related macular degeneration 9 [RCV000368309]|Atypical hemolytic-uremic syndrome 5 [RCV000271438]|Complement component 3 deficiency, autosomal recessive [RCV000311327]|not provided [RCV001523770] Chr19:6707061 [GRCh38]
Chr19:6707072 [GRCh37]
Chr19:19p13.3
benign|likely benign
NM_000064.4(C3):c.4803C>T (p.His1601=) single nucleotide variant Age-related macular degeneration 9 [RCV000365261]|Atypical hemolytic-uremic syndrome 5 [RCV000307062]|Complement component 3 deficiency, autosomal recessive [RCV000270705] Chr19:6678199 [GRCh38]
Chr19:6678210 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_000064.4(C3):c.4827C>T (p.Ser1609=) single nucleotide variant Age-related macular degeneration 9 [RCV000310546]|Atypical hemolytic-uremic syndrome 5 [RCV000402383]|Complement component 3 deficiency, autosomal recessive [RCV000350353] Chr19:6678175 [GRCh38]
Chr19:6678186 [GRCh37]
Chr19:19p13.3
likely benign|uncertain significance
NM_000064.4(C3):c.774-4G>A single nucleotide variant Age-related macular degeneration 9 [RCV000309466]|Atypical hemolytic-uremic syndrome 5 [RCV000363187]|Complement component 3 deficiency, autosomal recessive [RCV000273085] Chr19:6713513 [GRCh38]
Chr19:6713524 [GRCh37]
Chr19:19p13.3
benign|likely benign|uncertain significance
NM_000064.4(C3):c.1898A>G (p.Lys633Arg) single nucleotide variant Age-related macular degeneration 9 [RCV000352497]|Atypical hemolytic-uremic syndrome 5 [RCV000312677]|Complement component 3 deficiency, autosomal recessive [RCV000402109]|not provided [RCV000788141] Chr19:6707877 [GRCh38]
Chr19:6707888 [GRCh37]
Chr19:19p13.3
benign|likely benign|uncertain significance
NM_000064.4(C3):c.3299T>C (p.Leu1100Pro) single nucleotide variant Age-related macular degeneration 9 [RCV000311409]|Atypical hemolytic-uremic syndrome 5 [RCV000350872]|Complement component 3 deficiency, autosomal recessive [RCV000398615] Chr19:6693015 [GRCh38]
Chr19:6693026 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_000064.4(C3):c.4850+12C>A single nucleotide variant Age-related macular degeneration 9 [RCV000334388]|Atypical hemolytic-uremic syndrome 5 [RCV000314182]|Complement component 3 deficiency, autosomal recessive [RCV000399667] Chr19:6678140 [GRCh38]
Chr19:6678151 [GRCh37]
Chr19:19p13.3
likely benign|uncertain significance
NM_000064.4(C3):c.1554C>A (p.Pro518=) single nucleotide variant Age-related macular degeneration 9 [RCV000275322]|Atypical hemolytic-uremic syndrome 5 [RCV000329939]|Complement component 3 deficiency, autosomal recessive [RCV000389103]|not provided [RCV001515571] Chr19:6710771 [GRCh38]
Chr19:6710782 [GRCh37]
Chr19:19p13.3
benign
NM_000064.4(C3):c.4457-5C>T single nucleotide variant Age-related macular degeneration 9 [RCV000385956]|Atypical hemolytic-uremic syndrome 5 [RCV000276281]|Complement component 3 deficiency, autosomal recessive [RCV000331376]|not provided [RCV000880912] Chr19:6679501 [GRCh38]
Chr19:6679512 [GRCh37]
Chr19:19p13.3
benign|likely benign
NM_000064.4(C3):c.1407G>C (p.Glu469Asp) single nucleotide variant Age-related macular degeneration 9 [RCV000326470]|Atypical hemolytic-uremic syndrome 5 [RCV000990138]|Complement component 3 deficiency, autosomal recessive [RCV000276071]|not provided [RCV000964034] Chr19:6711059 [GRCh38]
Chr19:6711070 [GRCh37]
Chr19:19p13.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000064.4(C3):c.1119+15G>A single nucleotide variant Age-related macular degeneration 9 [RCV000277555]|Atypical hemolytic-uremic syndrome 5 [RCV000299557]|Complement component 3 deficiency, autosomal recessive [RCV000368315]|not provided [RCV001512601] Chr19:6712493 [GRCh38]
Chr19:6712504 [GRCh37]
Chr19:19p13.3
benign|likely benign
NM_000064.4(C3):c.1269+14C>A single nucleotide variant Age-related macular degeneration 9 [RCV000397979]|Atypical hemolytic-uremic syndrome 5 [RCV000283256]|Complement component 3 deficiency, autosomal recessive [RCV000342961] Chr19:6712243 [GRCh38]
Chr19:6712254 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_000064.4(C3):c.4855A>C (p.Ser1619Arg) single nucleotide variant Age-related macular degeneration 9 [RCV000279318]|Age-related macular degeneration 9 [RCV001281035]|Atypical hemolytic-uremic syndrome 5 [RCV000395497]|Complement component 3 deficiency, autosomal recessive [RCV000337839]|not provided [RCV000948468] Chr19:6678019 [GRCh38]
Chr19:6678030 [GRCh37]
Chr19:19p13.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance