Variant: rs28933100 

    present in Gene: NFKBIA
    present in Chromosome: 14
    Position on Chromosome: 35404550
    Alleles of this Variant: C/A;T

rs28933100 in NFKBIA gene and Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant PMID 14523047 2003 A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency.

PMID 18412279 2008 A novel mutation in NFKBIA/IKBA results in a degradation-resistant N-truncated protein and is associated with ectodermal dysplasia with immunodeficiency.