Variant: rs150739647 

    present in Gene: RAG1;RAG2
    present in Chromosome: 11
    Position on Chromosome: 36576228
    Alleles of this Variant: G/A;C

rs150739647 in RAG1;RAG2 gene and Omenn Syndrome PMID 19912631 2009 Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia.

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

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

PMID 9630231 1998 Partial V(D)J recombination activity leads to Omenn syndrome.

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

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

rs150739647 in RAG1;RAG2 gene and Severe Combined Immunodeficiency PMID 11971977 2002 Mutational analysis of all conserved basic amino acids in RAG-1 reveals catalytic, step arrest, and joining-deficient mutants in the V(D)J recombinase.

PMID 25869295 2015 Mutations in Recombination Activating Gene 1 and 2 in patients with severe combined immunodeficiency disorders in Egypt.

PMID 18768869 2008 A RAG1 mutation found in Omenn syndrome causes coding flank hypersensitivity: a novel mechanism for antigen receptor repertoire restriction.

PMID 18463379 2008 An immunodeficiency disease with RAG mutations and granulomas.

PMID 17572155 2007 GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes.

PMID 11213808 2000 The genetic and biochemical basis of Omenn syndrome.

PMID 27484032 2016 Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing.

PMID 20956421 2010 Highly variable clinical phenotypes of hypomorphic RAG1 mutations.