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.