Variant: rs28931586 

    present in Gene: CD40
    present in Chromosome: 20
    Position on Chromosome: 46122349
    Alleles of this Variant: T/C

rs28931586 in CD40 gene and Hyper-IgM Immunodeficiency Syndrome, Type 3 PMID 11675497 2001 Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM.

PMID 26545377 2016 Novel and recurrent AID mutations underlie prevalent autosomal recessive form of HIGM in consanguineous patients.