Variant: rs1204766339

present in Gene: IFTAP;RAG2;RAG1 present in Chromosome: 11 Position on Chromosome: 36592794 Alleles of this Variant: T/C;G

rs1204766339 in IFTAP;RAG2;RAG1 gene and Omenn Syndrome PMID 22841008 2012 A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome.

PMID 26457731 2015 Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.

rs1204766339 in IFTAP;RAG2;RAG1 gene and Primary immune deficiency disorder PMID 26457731 2015 Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.

PMID 22841008 2012 A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome.