Variant: rs104893674 

    present in Gene: ZAP70
    present in Chromosome: 2
    Position on Chromosome: 97737828
    Alleles of this Variant: C/A

rs104893674 in ZAP70 gene and ZAP70 deficiency PMID 18509675 2009 Clinical heterogeneity can hamper the diagnosis of patients with ZAP70 deficiency.

PMID 8124727 1994 Defective T cell receptor signaling and CD8+ thymic selection in humans lacking zap-70 kinase.

PMID 8202713 1994 ZAP-70 deficiency in an autosomal recessive form of severe combined immunodeficiency.

PMID 11123350 2001 Distinct T cell developmental consequences in humans and mice expressing identical mutations in the DLAARN motif of ZAP-70.

PMID 11412303 2001 Specific immunoglobulin E responses in ZAP-70-deficient patients are mediated by Syk-dependent T-cell receptor signalling.