Variant: rs104894291 

    present in Gene: RAG1
    present in Chromosome: 11
    Position on Chromosome: 36574491
    Alleles of this Variant: G/A;T

rs104894291 in RAG1 gene and Combined Cellular And Humoral Immune Defects With Granulomas PMID 19830075 2009 Homozygous R396H mutation of the RAG1 gene in a Saudi infant with Omenn's syndrome: a case report.

PMID 17075247 2006 Omenn syndrome--review of several phenotypes of Omenn syndrome and RAG1/RAG2 mutations in Japan.

PMID 24290284 2014 A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.

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

PMID 21131235 2011 Analysis of mutations and recombination activity in RAG-deficient patients.

rs104894291 in RAG1 gene and 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 11133745 2001 V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.

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

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

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.

rs104894291 in RAG1 gene and Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive PMID 19830075 2009 Homozygous R396H mutation of the RAG1 gene in a Saudi infant with Omenn's syndrome: a case report.

PMID 17075247 2006 Omenn syndrome--review of several phenotypes of Omenn syndrome and RAG1/RAG2 mutations in Japan.

PMID 21131235 2011 Analysis of mutations and recombination activity in RAG-deficient patients.

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

PMID 24290284 2014 A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.