C6 Chromosome 5

Complement C6

55 variants 55 Health Risk

Upload your DNA to see your personal genotypes for variants in C6.

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

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

Health Risk

Health Risk

All Variants (55)

RSID	Category	Clinical Significance	Conditions
RS140129534	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS141885438	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS148104911	Health Risk	Conflicting classifications of pathogenicity	C6-related disorder, C6-related disorder
RS200359838	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS544678725	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS751748298	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS76202909	Health Risk	Conflicting classifications of pathogenicity	C6 deficiency, subtotal, Complement component 6 deficiency
RS762327241	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS1432520854	Health Risk	Likely pathogenic	Complement component 6 deficiency, Complement component 6 deficiency
RS199930769	Health Risk	Likely pathogenic	Complement component 6 deficiency, Complement component 6 deficiency
RS2150258844	Health Risk	Likely pathogenic	—
RS2150311349	Health Risk	Likely pathogenic	—
RS2478052485	Health Risk	Likely pathogenic	Complement component 6 deficiency, Complement component 6 deficiency
RS2478496882	Health Risk	Likely pathogenic	—
RS2479052253	Health Risk	Likely pathogenic	—
RS546788276	Health Risk	Likely pathogenic	—
RS575510858	Health Risk	Likely pathogenic	—
RS759338755	Health Risk	Likely pathogenic	—
RS769828883	Health Risk	Likely pathogenic	—
RS778044260	Health Risk	Likely pathogenic	—
RS950033293	Health Risk	Likely pathogenic	C6-related disorder, C6-related disorder
RS1013696001	Health Risk	Pathogenic	—
RS1272010542	Health Risk	Pathogenic	—
RS1297077142	Health Risk	Pathogenic	—
RS1329836511	Health Risk	Pathogenic	Complement component 6 deficiency, Complement component 6 deficiency
RS1404303337	Health Risk	Pathogenic	—
RS1468759946	Health Risk	Pathogenic	—
RS1747532310	Health Risk	Pathogenic	—
RS191386155	Health Risk	Pathogenic	Complement component 6 deficiency, Complement component 6 deficiency
RS2150247662	Health Risk	Pathogenic	—
RS2150301547	Health Risk	Pathogenic	—
RS2478197098	Health Risk	Pathogenic	—
RS2478412286	Health Risk	Pathogenic	C6-related disorder, C6-related disorder
RS2479109570	Health Risk	Pathogenic	—
RS2479143369	Health Risk	Pathogenic	—
RS2479157275	Health Risk	Pathogenic	—
RS372345940	Health Risk	Pathogenic	Complement component 6 deficiency, Complement component 6 deficiency
RS398122811	Health Risk	Pathogenic	Complement component 6 deficiency, Complement component 6 deficiency
RS61469168	Health Risk	Pathogenic	Complement component 6 deficiency, Immunodeficiency due to a late component of complement deficiency, C6-related disorder
RS751375135	Health Risk	Pathogenic	—
RS754001934	Health Risk	Pathogenic	—
RS754529564	Health Risk	Pathogenic	—
RS75870538	Health Risk	Pathogenic	—
RS762098368	Health Risk	Pathogenic	—
RS772825212	Health Risk	Pathogenic	—
RS777936780	Health Risk	Pathogenic	—
RS142881576	Health Risk	Pathogenic/Likely pathogenic	Complement component 6 deficiency, Complement component 6 deficiency
RS199946957	Health Risk	Pathogenic/Likely pathogenic	Complement component 6 deficiency, Complement component 6 deficiency
RS375762365	Health Risk	Pathogenic/Likely pathogenic	Complement component 6 deficiency, C6-related disorder, Inborn genetic diseases
RS557023458	Health Risk	Pathogenic/Likely pathogenic	Complement component 6 deficiency, C6-related disorder, Complement component 6 deficiency

1 2 Next »