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
1
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
Age related macular degeneration 4, Basal laminar drusen, Atypical hemolytic-uremic syndrome
Health Risk
RS121913059
Conflicting classifications of pathogenicity
Factor H deficiency, Hemolytic uremic syndrome, atypical
Health Risk
RS1239695899
Conflicting classifications of pathogenicity
Age related macular degeneration 4, Age related macular degeneration 4
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
Age related macular degeneration 4, Basal laminar drusen, Hemolytic uremic syndrome
Health Risk
All Variants (130)
RSID Category Clinical Significance Conditions
RS755841584 Health Risk Conflicting classifications of pathogenicity Basal laminar drusen, Hemolytic uremic syndrome, atypical
RS755926856 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 4, CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, Hemolytic uremic syndrome
RS757045842 Health Risk Conflicting classifications of pathogenicity CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, Age related macular degeneration 4, Basal laminar drusen
RS761877050 Health Risk Conflicting classifications of pathogenicity Basal laminar drusen, Factor H deficiency, Hemolytic uremic syndrome
RS764539113 Health Risk Conflicting classifications of pathogenicity CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, Hemolytic uremic syndrome, atypical
RS768526062 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis, Hemolytic uremic syndrome, atypical
RS768874309 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769615121 Health Risk Conflicting classifications of pathogenicity CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, Hemolytic uremic syndrome, atypical
RS770339409 Health Risk Conflicting classifications of pathogenicity Basal laminar drusen, Age related macular degeneration 4, Hemolytic uremic syndrome
RS886039869 Health Risk Conflicting classifications of pathogenicity Hemolytic uremic syndrome, atypical, susceptibility to
RS950210342 Health Risk Conflicting classifications of pathogenicity Hemolytic uremic syndrome, atypical, susceptibility to
RS976333015 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 4, Atypical hemolytic-uremic syndrome, Age related macular degeneration 4
RS1050115425 Health Risk Likely pathogenic —
RS121913058 Health Risk Likely pathogenic Factor H deficiency, Factor H deficiency
RS1274067311 Health Risk Likely pathogenic CFH-related disorder, Hemolytic uremic syndrome, atypical
RS1354648948 Health Risk Likely pathogenic Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome
RS1438529897 Health Risk Likely pathogenic —
RS1573087200 Health Risk Likely pathogenic Hemolytic uremic syndrome, atypical, susceptibility to
RS1666522276 Health Risk Likely pathogenic —
RS2149088310 Health Risk Likely pathogenic —
RS2149117986 Health Risk Likely pathogenic Factor H deficiency, Factor H deficiency
RS2149118044 Health Risk Likely pathogenic —
RS2149118730 Health Risk Likely pathogenic —
RS2529386595 Health Risk Likely pathogenic Hemolytic uremic syndrome, atypical, susceptibility to
RS2529474366 Health Risk Likely pathogenic Hemolytic uremic syndrome, atypical, susceptibility to
RS2529534149 Health Risk Likely pathogenic Hemolytic uremic syndrome, atypical, susceptibility to
RS2529544865 Health Risk Likely pathogenic Hemolytic uremic syndrome, atypical, susceptibility to
RS2529549247 Health Risk Likely pathogenic Factor H deficiency, Hemolytic uremic syndrome, atypical
RS2529557310 Health Risk Likely pathogenic Hemolytic uremic syndrome, atypical, susceptibility to
RS2529561797 Health Risk Likely pathogenic Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome
RS780411647 Health Risk Likely pathogenic Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome
RS867229260 Health Risk Likely pathogenic —
RS121913056 Health Risk Likely pathogenic, low penetrance Factor H deficiency, Atypical hemolytic-uremic syndrome, Age related macular degeneration 4
RS2149082076 Health Risk Likely pathogenic/Likely pathogenic, low penetrance Basal laminar drusen, Factor H deficiency, Age related macular degeneration 4
RS575109631 Health Risk Likely pathogenic/Likely pathogenic, low penetrance Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome
RS1131690796 Health Risk Pathogenic Hemolytic uremic syndrome, atypical, susceptibility to
RS121913054 Health Risk Pathogenic Factor H deficiency, Factor H deficiency
RS121913057 Health Risk Pathogenic Hemolytic uremic syndrome, atypical, susceptibility to
RS121913060 Health Risk Pathogenic Hemolytic uremic syndrome, atypical, susceptibility to
RS121913061 Health Risk Pathogenic Basal laminar drusen, Age related macular degeneration 4, Basal laminar drusen
RS1311814991 Health Risk Pathogenic Hemolytic uremic syndrome, atypical, susceptibility to
RS1328357943 Health Risk Pathogenic Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome
RS150694809 Health Risk Pathogenic Age related macular degeneration 4, Basal laminar drusen, Hemolytic uremic syndrome
RS1553273733 Health Risk Pathogenic Hemolytic uremic syndrome, atypical, susceptibility to
RS1558162157 Health Risk Pathogenic Hemolytic uremic syndrome, atypical, susceptibility to
RS1573076111 Health Risk Pathogenic Hemolytic uremic syndrome, atypical, susceptibility to
RS1652989506 Health Risk Pathogenic Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome
RS1653045638 Health Risk Pathogenic —
RS2149080704 Health Risk Pathogenic —
RS2149082066 Health Risk Pathogenic —
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