Variant: rs148508754 

    present in Gene: IFTAP;RAG2
    present in Chromosome: 11
    Position on Chromosome: 36594065
    Alleles of this Variant: C/A;G

rs148508754 in IFTAP;RAG2 gene and Omenn Syndrome 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.

PMID 15025726 2004 Detection of RAG mutations and prenatal diagnosis in families presenting with either T-B- severe combined immunodeficiency or Omenn's syndrome.

PMID 16960852 2006 RAG-dependent primary immunodeficiencies.

PMID 23243423 2012 Characterizing T cells in SCID patients presenting with reactive or residual T lymphocytes.

rs148508754 in IFTAP;RAG2 gene and Primary immune deficiency disorder PMID 16960852 2006 RAG-dependent primary immunodeficiencies.

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.

PMID 23243423 2012 Characterizing T cells in SCID patients presenting with reactive or residual T lymphocytes.

PMID 15025726 2004 Detection of RAG mutations and prenatal diagnosis in families presenting with either T-B- severe combined immunodeficiency or Omenn's syndrome.

rs148508754 in IFTAP;RAG2 gene and Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive PMID 16960852 2006 RAG-dependent primary immunodeficiencies.

PMID 15025726 2004 Detection of RAG mutations and prenatal diagnosis in families presenting with either T-B- severe combined immunodeficiency or Omenn's syndrome.

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.

PMID 23243423 2012 Characterizing T cells in SCID patients presenting with reactive or residual T lymphocytes.