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CFHR3

Synonyms
CFHL3, DOWN16, FHR-3, FHR3, HLF4
External resources
Summary
The protein encoded by this gene is a secreted protein, which belongs to the complement factor H-related protein family. It binds to heparin, and may be involved in complement regulation. Mutations in this gene are associated with decreased risk of age-related macular degeneration, and with an increased risk of atypical hemolytic-uremic syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
16
Likely pathogenic
2
VUS
1,122
Likely benign
2,271
Benign
175

Patient phenotypes

Proportions of phenotypes among 18 patients carrying pathogenic or likely pathogenic variants on CFHR3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
44.4%
Abnormality of head or neck
27.8%
Abnormality of the nervous system
27.8%
Growth abnormality
22.2%
Abnormality of the ear
16.7%
Abnormality of the eye
16.7%
Abnormality of limbs
11.1%
Abnormality of the genitourinary system
11.1%
Abnormality of the immune system
11.1%
Abnormality of blood and blood-forming tissues
5.6%
Abnormality of prenatal development or birth
5.6%
Abnormality of the cardiovascular system
5.6%
Abnormality of the integument
5.6%
Neoplasm
5.6%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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