Variant: rs137852624 

    present in Gene: JAK3
    present in Chromosome: 19
    Position on Chromosome: 17843786
    Alleles of this Variant: T/C

rs137852624 in JAK3 gene and Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative PMID 9354668 1997 Structural and functional basis for JAK3-deficient severe combined immunodeficiency.

PMID 9753072 1998 Molecular and biochemical characterization of JAK3 deficiency in a patient with severe combined immunodeficiency over 20 years after bone marrow transplantation: implications for treatment.

PMID 10982185 2000 Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism.

PMID 7659163 1995 Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID).

PMID 14615376 2004 Janus kinase 3 (JAK3) deficiency: clinical, immunologic, and molecular analyses of 10 patients and outcomes of stem cell transplantation.