CFH Chromosome 1

Complement factor H

130 variants 130 Health Risk

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What This Gene Does

This gene is a member of the Regulator of Complement Activation (RCA) gene cluster and encodes a protein with twenty short consensus repeat (SCR) domains. This protein is secreted into the bloodstream and has an essential role in the regulation of complement activation, restricting this innate defense mechanism to microbial infections. Mutations in this gene have been associated with hemolytic-uremic syndrome (HUS) and chronic hypocomplementemic nephropathy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Oct 2011]

Gene Info

Gene Group

"Sushi domain containing|Complement system regulators and receptors"

Locus Type

gene with protein product

Location

1q31.3

Ensembl

ENSG00000000971

Associated Conditions (27)

Basal laminar drusen

Age related macular degeneration 4

CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II

Hemolytic uremic syndrome

atypical

susceptibility to

Factor H deficiency

Atypical hemolytic-uremic syndrome

Kidney disorder

Retinal dystrophy

Chronic kidney disease

Complement 3 glomerulopathy

CFH-related disorder

Inborn genetic diseases

Familial Atypical Hemolytic-Uremic Syndrome

Optic atrophy

Familial cancer of breast

Malignant lymphoma

large B-cell

+7 more conditions

Key Variants

RS1061170

Conflicting classifications of pathogenicity

Basal laminar drusen, Age related macular degeneration 4, Basal laminar drusen

Health Risk

RS114743644

Conflicting classifications of pathogenicity

Health Risk

RS121913059

Conflicting classifications of pathogenicity

Factor H deficiency, Hemolytic uremic syndrome, atypical

Health Risk

RS1239695899

Conflicting classifications of pathogenicity

Health Risk

RS1351891195

Conflicting classifications of pathogenicity

Health Risk

RS1362306576

Conflicting classifications of pathogenicity

Factor H deficiency, Chronic kidney disease, Atypical hemolytic-uremic syndrome

Health Risk

RS139254423

Conflicting classifications of pathogenicity

Hemolytic uremic syndrome, atypical, susceptibility to

Health Risk

RS139360826

Conflicting classifications of pathogenicity

Atypical hemolytic-uremic syndrome, Hemolytic uremic syndrome, atypical

Health Risk

RS140107330

Conflicting classifications of pathogenicity

Hemolytic uremic syndrome, atypical, susceptibility to

Health Risk

RS1408473510

Conflicting classifications of pathogenicity

Hemolytic uremic syndrome, atypical, susceptibility to

Health Risk

RS141336681

Conflicting classifications of pathogenicity

Basal laminar drusen, Hemolytic uremic syndrome, atypical

Health Risk

RS141852866

Conflicting classifications of pathogenicity

Health Risk

All Variants (130)

RSID	Category	Clinical Significance	Conditions
RS2149088724	Health Risk	Pathogenic	Basal laminar drusen, Atypical hemolytic-uremic syndrome, Basal laminar drusen
RS2149088788	Health Risk	Pathogenic	—
RS2149107994	Health Risk	Pathogenic	—
RS2149108488	Health Risk	Pathogenic	—
RS2529466865	Health Risk	Pathogenic	—
RS2529467049	Health Risk	Pathogenic	—
RS2529474661	Health Risk	Pathogenic	Hemolytic uremic syndrome, atypical, susceptibility to
RS2529499351	Health Risk	Pathogenic	Factor H deficiency, Factor H deficiency
RS776219612	Health Risk	Pathogenic	—
RS796052138	Health Risk	Pathogenic	Factor H deficiency, Factor H deficiency
RS121913063	Health Risk	Pathogenic, low penetrance	Hemolytic uremic syndrome, atypical, susceptibility to
RS1300996807	Health Risk	Pathogenic, low penetrance	Hemolytic uremic syndrome, atypical, susceptibility to
RS1573026975	Health Risk	Pathogenic, low penetrance	Hemolytic uremic syndrome, atypical, susceptibility to
RS1652987369	Health Risk	Pathogenic, low penetrance	Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome
RS1653042358	Health Risk	Pathogenic, low penetrance	Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome
RS796052137	Health Risk	Pathogenic, low penetrance	Hemolytic uremic syndrome, atypical, susceptibility to
RS121913051	Health Risk	Pathogenic/Likely pathogenic	Hemolytic uremic syndrome, atypical, susceptibility to
RS1387205085	Health Risk	Pathogenic/Likely pathogenic	Atypical hemolytic-uremic syndrome, Factor H deficiency, Atypical hemolytic-uremic syndrome
RS1669420365	Health Risk	Pathogenic/Likely pathogenic	Factor H deficiency, Age related macular degeneration 4, Basal laminar drusen
RS2149103688	Health Risk	Pathogenic/Likely pathogenic	Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome
RS2149113459	Health Risk	Pathogenic/Likely pathogenic	Factor H deficiency, Age related macular degeneration 4, Basal laminar drusen
RS2149118700	Health Risk	Pathogenic/Likely pathogenic	Factor H deficiency, Atypical hemolytic-uremic syndrome, Factor H deficiency
RS460897	Health Risk	Pathogenic/Likely pathogenic	Hemolytic uremic syndrome, atypical, susceptibility to
RS755790570	Health Risk	Pathogenic/Likely pathogenic	Factor H deficiency, Atypical hemolytic-uremic syndrome, Basal laminar drusen
RS757785149	Health Risk	Pathogenic/Likely pathogenic	Hemolytic uremic syndrome, atypical, susceptibility to
RS2529561891	Health Risk	Pathogenic/Likely pathogenic, low penetrance	Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome
RS1210674261	Health Risk	Pathogenic/Likely pathogenic/Pathogenic, low penetrance	Factor H deficiency, Age related macular degeneration 4, Hemolytic uremic syndrome
RS1410996	Health Risk	risk factor	Age related macular degeneration 4, Age related macular degeneration 4
RS2274700	Health Risk	risk factor	Age related macular degeneration 4, Age related macular degeneration 4
RS796052136	Health Risk	risk factor	Hemolytic uremic syndrome, atypical, susceptibility to

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