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CFHR2

Synonyms
CFHL2, FHR2, HFL3
External resources
Summary
This gene belongs to a family of complement factor H-related genes (CFHR), which are clustered together with complement factor H gene on chromosome 1, and are involved in regulation of complement. Mutations in CFHR genes have been associated with dense deposit disease and atypical haemolytic-uraemic syndrome. Alternatively spliced transcript variants 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
0
Likely pathogenic
0
VUS
442
Likely benign
1,636
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on CFHR2 gene.

Phenotype class
Patients in 3billion (%)

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