C6 Chromosome 5
Complement C6
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What This Gene Does
This gene encodes a component of the complement cascade. The encoded protein is part of the membrane attack complex that can be incorporated into the cell membrane and cause cell lysis. Mutations in this gene are associated with complement component-6 deficiency. Transcript variants encoding the same protein have been described.[provided by RefSeq, Nov 2012]
Gene Info
Gene Group
"Sushi domain containing|Complement system activation components|Membrane Attack complex"
Locus Type
gene with protein product
Location
5p13.1
Ensembl
ENSG00000039537
Associated Conditions (11)
Inborn genetic diseases
C6-related disorder
C6 deficiency
subtotal
Complement component 6 deficiency
Melanoma
Hepatocellular carcinoma
Lung cancer
Clear cell carcinoma of kidney
Malignant tumor of urinary bladder
Immunodeficiency due to a late component of complement deficiency
Key Variants
RS140129534
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141885438
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS148104911
Conflicting classifications of pathogenicity
C6-related disorder, C6-related disorder
Health Risk
RS200359838
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS544678725
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS751748298
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS76202909
Conflicting classifications of pathogenicity
C6 deficiency, subtotal, Complement component 6 deficiency
Health Risk
RS762327241
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1432520854
Likely pathogenic
Complement component 6 deficiency, Complement component 6 deficiency
Health Risk
RS199930769
Likely pathogenic
Complement component 6 deficiency, Complement component 6 deficiency
Health Risk
RS2150258844
Likely pathogenic
Health Risk
RS2150311349
Likely pathogenic
Health Risk
All Variants (55)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS749432203 | Health Risk | Pathogenic/Likely pathogenic | Complement component 6 deficiency, Complement component 6 deficiency |
| RS771792933 | Health Risk | Pathogenic/Likely pathogenic | Complement component 6 deficiency, Complement component 6 deficiency |
| RS779825789 | Health Risk | Pathogenic/Likely pathogenic | Complement component 6 deficiency, Complement component 6 deficiency |
| RS867425110 | Health Risk | Pathogenic/Likely pathogenic | Complement component 6 deficiency, C6-related disorder, Complement component 6 deficiency |
| RS894782145 | Health Risk | Pathogenic/Likely pathogenic | Complement component 6 deficiency, Complement component 6 deficiency |