rs61746417

This variant is located in the CFHR2 gene.

ClinVar annotation

Benign★★★
3 submitters1 publication

Atypical hemolytic-uremic syndrome; not specified

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About CFHR2

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. [provided by RefSeq, Aug 2015]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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