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