Variant: rs104894290 

    present in Gene: RAG2;RAG1
    present in Chromosome: 11
    Position on Chromosome: 36576039
    Alleles of this Variant: A/G

rs104894290 in RAG2;RAG1 gene and Omenn Syndrome PMID 9630231 1998 Partial V(D)J recombination activity leads to Omenn syndrome.

PMID 10606976 2000 Characterization of immune function and analysis of RAG gene mutations in Omenn syndrome and related disorders.

PMID 11133745 2001 V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.

PMID 19912631 2009 Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia.

PMID 21771083 2011 Clinical characteristics and molecular analysis of three Chinese children with Omenn syndrome.

PMID 21624848 2011 Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome.