Variant: rs1057520045

present in Gene: BTK present in Chromosome: X Position on Chromosome: 101375164 Alleles of this Variant: C/T

rs1057520045 in BTK gene and Agammaglobulinemia PMID 10352268 1999 Early arrest in B cell development in transgenic mice that express the E41K Bruton's tyrosine kinase mutant under the control of the CD19 promoter region.