Variant: rs28934590 

    present in Gene: C2;CYP21A2
    present in Chromosome: 6
    Position on Chromosome: 31933876
    Alleles of this Variant: C/G;T

rs28934590 in C2;CYP21A2 gene and COMPLEMENT COMPONENT 2 DEFICIENCY PMID 8621452 1996 Type II human complement C2 deficiency. Allele-specific amino acid substitutions (Ser189 --> Phe; Gly444 --> Arg) cause impaired C2 secretion.

PMID 9670930 1998 A novel type II complement C2 deficiency allele in an African-American family.