Variant: rs121917897 

    present in Gene: IFTAP;RAG2
    present in Chromosome: 11
    Position on Chromosome: 36594054
    Alleles of this Variant: T/C

rs121917897 in IFTAP;RAG2 gene and Primary immune deficiency disorder PMID 11313270 2001 Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome.

rs121917897 in IFTAP;RAG2 gene and Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive PMID 11313270 2001 Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome.