Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Gene entry

BTK

Bruton tyrosine kinase

Chromosome
X
Cytoband
Xq22.1
Variants (rsID)
28

BTK is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome X (region Xq22.1). Its official name is “Bruton tyrosine kinase”. The reference table lists 28 variants (rsID) for this gene.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Clinically classified variants

19 reference-table entries with clinical significance.

  • rs1057403Benignsingle nucleotide variantX-linked agammaglobulinemia|X-linked agammaglobulinemia with growth hormone deficiency
  • rs35877704Benignsingle nucleotide variantX-linked agammaglobulinemia|X-linked agammaglobulinemia with growth hormone deficiency
  • rs5951308Benignsingle nucleotide variant
  • rs700Benignsingle nucleotide variantX-linked agammaglobulinemia with growth hormone deficiency|X-linked agammaglobulinemia
  • rs128621203Conflicting interpretationssingle nucleotide variantX-linked agammaglobulinemia with growth hormone deficiency
  • rs193922125Likely pathogenicsingle nucleotide variantX-linked agammaglobulinemia
  • rs193922126Likely pathogenicDeletionX-linked agammaglobulinemia
  • rs193922131Likely pathogenicsingle nucleotide variantX-linked agammaglobulinemia
  • rs193922133Likely pathogenicsingle nucleotide variantX-linked agammaglobulinemia
  • rs104894770Pathogenicsingle nucleotide variantX-linked agammaglobulinemia
  • rs128620183Pathogenicsingle nucleotide variantX-linked agammaglobulinemia|Autosomal recessive agammaglobulinemia 1|X-linked agammaglobulinemia with growth hormone deficiency
  • rs128620185Pathogenicsingle nucleotide variantX-linked agammaglobulinemia|Autosomal recessive agammaglobulinemia 1|X-linked agammaglobulinemia with growth hormone deficiency
  • rs128620187Pathogenicsingle nucleotide variantX-linked agammaglobulinemia
  • rs128621201Pathogenicsingle nucleotide variantX-linked agammaglobulinemia|Autosomal recessive agammaglobulinemia 1|X-linked agammaglobulinemia with growth hormone deficiency
  • rs128621204Pathogenicsingle nucleotide variantX-linked agammaglobulinemia|Autosomal recessive agammaglobulinemia 1|X-linked agammaglobulinemia with growth hormone deficiency
  • rs128621210Pathogenicsingle nucleotide variantX-linked agammaglobulinemia
  • rs193922124Pathogenicsingle nucleotide variantX-linked agammaglobulinemia
  • rs193922128PathogenicDeletionX-linked agammaglobulinemia|X-linked agammaglobulinemia with growth hormone deficiency
  • rs193922132Pathogenicsingle nucleotide variantX-linked agammaglobulinemia|X-linked agammaglobulinemia with growth hormone deficiency

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.