rs374754086

This variant is located in the CR2 gene.

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ClinVar annotation

Uncertain Significance★★★☆
2 submitters1 publication

Immunodeficiency, common variable, 7; Inborn genetic diseases

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About CR2

This gene encodes a membrane protein, which functions as a receptor for Epstein-Barr virus (EBV) binding on B and T lymphocytes. Genetic variations in this gene are associated with susceptibility to systemic lupus erythematosus type 9 (SLEB9). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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