Variant: rs121908191

present in Gene: ITK present in Chromosome: 5 Position on Chromosome: 157241663 Alleles of this Variant: C/T

rs121908191 in ITK gene and LYMPHOPROLIFERATIVE SYNDROME 1 PMID 19425169 2009 Girls homozygous for an IL-2-inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation.