C3 Chromosome 19

Complement C3
126 variants 126 Health Risk

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What This Gene Does
Complement component C3 plays a central role in the activation of complement system. Its activation is required for both classical and alternative complement activation pathways. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form the mature protein, which is then further processed to generate numerous peptide products. The C3a peptide, also known as the C3a anaphylatoxin, modulates inflammation and possesses antimicrobial activity. Mutations in this gene are associated with atypical hemolytic uremic syndrome and age-related macular degeneration in human patients. [provided by RefSeq, Nov 2015]
Gene Info
Gene Group
"Receptor ligands|C3 and PZP like, alpha-2-macroglobulin domain containing|Complement system activation components"
Locus Type
gene with protein product
Location
19p13.3
Ensembl
ENSG00000125730
Associated Conditions (17)
Complement component 3 deficiency
Age related macular degeneration 9
Atypical hemolytic-uremic syndrome with C3 anomaly
Atypical hemolytic-uremic syndrome
C3 glomerulonephritis
C3-related disorder
Inborn genetic diseases
Kidney disorder
MACULAR DEGENERATION
AGE-RELATED
9
SUSCEPTIBILITY TO
Retinal dystrophy
Cervical cancer
Familial cancer of breast
C3 DEFICIENCY
Familial Atypical Hemolytic-Uremic Syndrome
Key Variants
RS112977278
Conflicting classifications of pathogenicity
Complement component 3 deficiency, Complement component 3 deficiency
Health Risk
RS113044084
Conflicting classifications of pathogenicity
Age related macular degeneration 9, Atypical hemolytic-uremic syndrome with C3 anomaly, Complement component 3 deficiency
Health Risk
RS113742728
Conflicting classifications of pathogenicity
Atypical hemolytic-uremic syndrome, Complement component 3 deficiency, C3 glomerulonephritis
Health Risk
RS11569534
Conflicting classifications of pathogenicity
Atypical hemolytic-uremic syndrome with C3 anomaly, Age related macular degeneration 9, Complement component 3 deficiency
Health Risk
RS11569541
Conflicting classifications of pathogenicity
C3 glomerulonephritis, Atypical hemolytic-uremic syndrome, Complement component 3 deficiency
Health Risk
RS117793540
Conflicting classifications of pathogenicity
Age related macular degeneration 9, Complement component 3 deficiency, Atypical hemolytic-uremic syndrome with C3 anomaly
Health Risk
RS121909585
Conflicting classifications of pathogenicity
Atypical hemolytic-uremic syndrome with C3 anomaly, Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome with C3 anomaly
Health Risk
RS1233140401
Conflicting classifications of pathogenicity
Atypical hemolytic-uremic syndrome with C3 anomaly, Complement component 3 deficiency, Age related macular degeneration 9
Health Risk
RS1236557685
Conflicting classifications of pathogenicity
Health Risk
RS1237544125
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1309520305
Conflicting classifications of pathogenicity
Age related macular degeneration 9, Complement component 3 deficiency, Atypical hemolytic-uremic syndrome with C3 anomaly
Health Risk
RS137956083
Conflicting classifications of pathogenicity
Age related macular degeneration 9, Complement component 3 deficiency, Atypical hemolytic-uremic syndrome with C3 anomaly
Health Risk
All Variants (126)
RSID Category Clinical Significance Conditions
RS112977278 Health Risk Conflicting classifications of pathogenicity Complement component 3 deficiency, Complement component 3 deficiency
RS113044084 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 9, Atypical hemolytic-uremic syndrome with C3 anomaly, Complement component 3 deficiency
RS113742728 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome, Complement component 3 deficiency, C3 glomerulonephritis
RS11569534 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with C3 anomaly, Age related macular degeneration 9, Complement component 3 deficiency
RS11569541 Health Risk Conflicting classifications of pathogenicity C3 glomerulonephritis, Atypical hemolytic-uremic syndrome, Complement component 3 deficiency
RS117793540 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 9, Complement component 3 deficiency, Atypical hemolytic-uremic syndrome with C3 anomaly
RS121909585 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with C3 anomaly, Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome with C3 anomaly
RS1233140401 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with C3 anomaly, Complement component 3 deficiency, Age related macular degeneration 9
RS1236557685 Health Risk Conflicting classifications of pathogenicity
RS1237544125 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1309520305 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 9, Complement component 3 deficiency, Atypical hemolytic-uremic syndrome with C3 anomaly
RS137956083 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 9, Complement component 3 deficiency, Atypical hemolytic-uremic syndrome with C3 anomaly
RS138214338 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with C3 anomaly, Age related macular degeneration 9, Complement component 3 deficiency
RS139100972 Health Risk Conflicting classifications of pathogenicity Complement component 3 deficiency, Age related macular degeneration 9, Atypical hemolytic-uremic syndrome with C3 anomaly
RS139457470 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 9, Atypical hemolytic-uremic syndrome with C3 anomaly, Complement component 3 deficiency
RS139527231 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with C3 anomaly, Complement component 3 deficiency, Age related macular degeneration 9
RS139864704 Health Risk Conflicting classifications of pathogenicity Complement component 3 deficiency, Atypical hemolytic-uremic syndrome with C3 anomaly, Age related macular degeneration 9
RS140655115 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with C3 anomaly, Age related macular degeneration 9, Complement component 3 deficiency
RS140928439 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with C3 anomaly, Age related macular degeneration 9, Complement component 3 deficiency
RS141737564 Health Risk Conflicting classifications of pathogenicity Complement component 3 deficiency, Age related macular degeneration 9, Atypical hemolytic-uremic syndrome with C3 anomaly
RS142868256 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with C3 anomaly, Complement component 3 deficiency, Age related macular degeneration 9
RS143671993 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 9, Atypical hemolytic-uremic syndrome with C3 anomaly, Complement component 3 deficiency
RS143750180 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 9, Atypical hemolytic-uremic syndrome with C3 anomaly, Complement component 3 deficiency
RS144432231 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 9, Atypical hemolytic-uremic syndrome with C3 anomaly, Complement component 3 deficiency
RS144589541 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with C3 anomaly, Complement component 3 deficiency, Age related macular degeneration 9
RS144672500 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with C3 anomaly, Age related macular degeneration 9, Complement component 3 deficiency
RS146167974 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 9, Atypical hemolytic-uremic syndrome with C3 anomaly, Complement component 3 deficiency
RS146613648 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with C3 anomaly, Age related macular degeneration 9, Complement component 3 deficiency
RS147116781 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with C3 anomaly, Age related macular degeneration 9, Complement component 3 deficiency
RS147477257 Health Risk Conflicting classifications of pathogenicity Complement component 3 deficiency, Atypical hemolytic-uremic syndrome with C3 anomaly, Age related macular degeneration 9
RS147859257 Health Risk Conflicting classifications of pathogenicity MACULAR DEGENERATION, AGE-RELATED, 9
RS148870667 Health Risk Conflicting classifications of pathogenicity Complement component 3 deficiency, Age related macular degeneration 9, Atypical hemolytic-uremic syndrome with C3 anomaly
RS149202905 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with C3 anomaly, Age related macular degeneration 9, Complement component 3 deficiency
RS149209011 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 9, Atypical hemolytic-uremic syndrome with C3 anomaly, Complement component 3 deficiency
RS150537373 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 9, Complement component 3 deficiency, Atypical hemolytic-uremic syndrome with C3 anomaly
RS184430616 Health Risk Conflicting classifications of pathogenicity Kidney disorder, Kidney disorder
RS184455094 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 9, Atypical hemolytic-uremic syndrome with C3 anomaly, Complement component 3 deficiency
RS200541526 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with C3 anomaly, Age related macular degeneration 9, Complement component 3 deficiency
RS200965763 Health Risk Conflicting classifications of pathogenicity Complement component 3 deficiency, Atypical hemolytic-uremic syndrome with C3 anomaly, Age related macular degeneration 9
RS200967589 Health Risk Conflicting classifications of pathogenicity Complement component 3 deficiency, Age related macular degeneration 9, Atypical hemolytic-uremic syndrome with C3 anomaly
RS201108539 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with C3 anomaly, Age related macular degeneration 9, Complement component 3 deficiency
RS201726041 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 9, Atypical hemolytic-uremic syndrome with C3 anomaly, Complement component 3 deficiency
RS201872466 Health Risk Conflicting classifications of pathogenicity
RS202210310 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 9, Atypical hemolytic-uremic syndrome with C3 anomaly, Complement component 3 deficiency
RS2145430033 Health Risk Conflicting classifications of pathogenicity
RS2145436814 Health Risk Conflicting classifications of pathogenicity C3 glomerulonephritis, C3 glomerulonephritis
RS2230210 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 9, Complement component 3 deficiency, Atypical hemolytic-uremic syndrome with C3 anomaly
RS2512236070 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2512254213 Health Risk Conflicting classifications of pathogenicity
RS2512270762 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome
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