BTK Chromosome X
Bruton tyrosine kinase
Upload your DNA to see your personal genotypes for variants in BTK.
What This Gene Does
The protein encoded by this gene plays a crucial role in B-cell development. Mutations in this gene cause X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]
Gene Info
Gene Group
"Pleckstrin homology domain containing|SH2 domain containing|Tec family tyrosine kinases"
Locus Type
gene with protein product
Location
Xq22.1
Ensembl
ENSG00000010671
Associated Conditions (13)
X-linked agammaglobulinemia
X-linked agammaglobulinemia with growth hormone deficiency
Malignant lymphoma
large B-cell
diffuse
Inherited Immunodeficiency Diseases
Inborn genetic diseases
Autosomal recessive agammaglobulinemia 1
Thyroid cancer
nonmedullary
1
Common variable immunodeficiency
BTK-related disorder
Key Variants
RS1057515724
Conflicting classifications of pathogenicity
X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia
Health Risk
RS1057519825
Conflicting classifications of pathogenicity
X-linked agammaglobulinemia with growth hormone deficiency, Malignant lymphoma, large B-cell
Health Risk
RS1057519826
Conflicting classifications of pathogenicity
X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
Health Risk
RS128621203
Conflicting classifications of pathogenicity
X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
Health Risk
RS138411530
Conflicting classifications of pathogenicity
X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia
Health Risk
RS1569291244
Conflicting classifications of pathogenicity
X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency
Health Risk
RS1603008329
Conflicting classifications of pathogenicity
Inherited Immunodeficiency Diseases, X-linked agammaglobulinemia with growth hormone deficiency, Inherited Immunodeficiency Diseases
Health Risk
RS1603019780
Conflicting classifications of pathogenicity
X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
Health Risk
RS1926354581
Conflicting classifications of pathogenicity
X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
Health Risk
RS1926588297
Conflicting classifications of pathogenicity
X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency
Health Risk
RS193922125
Conflicting classifications of pathogenicity
X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia
Health Risk
RS193922133
Conflicting classifications of pathogenicity
X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia
Health Risk
All Variants (286)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1057515724 | Health Risk | Conflicting classifications of pathogenicity | X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia |
| RS1057519825 | Health Risk | Conflicting classifications of pathogenicity | X-linked agammaglobulinemia with growth hormone deficiency, Malignant lymphoma, large B-cell |
| RS1057519826 | Health Risk | Conflicting classifications of pathogenicity | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS128621203 | Health Risk | Conflicting classifications of pathogenicity | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS138411530 | Health Risk | Conflicting classifications of pathogenicity | X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia |
| RS1569291244 | Health Risk | Conflicting classifications of pathogenicity | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency |
| RS1603008329 | Health Risk | Conflicting classifications of pathogenicity | Inherited Immunodeficiency Diseases, X-linked agammaglobulinemia with growth hormone deficiency, Inherited Immunodeficiency Diseases |
| RS1603019780 | Health Risk | Conflicting classifications of pathogenicity | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS1926354581 | Health Risk | Conflicting classifications of pathogenicity | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS1926588297 | Health Risk | Conflicting classifications of pathogenicity | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency |
| RS193922125 | Health Risk | Conflicting classifications of pathogenicity | X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia |
| RS193922133 | Health Risk | Conflicting classifications of pathogenicity | X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia |
| RS375885718 | Health Risk | Conflicting classifications of pathogenicity | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS782038889 | Health Risk | Conflicting classifications of pathogenicity | X-linked agammaglobulinemia with growth hormone deficiency, Inborn genetic diseases, X-linked agammaglobulinemia with growth hormone deficiency |
| RS782047787 | Health Risk | Conflicting classifications of pathogenicity | X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia |
| RS782338603 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive agammaglobulinemia 1, X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia |
| RS782365356 | Health Risk | Conflicting classifications of pathogenicity | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS782697907 | Health Risk | Conflicting classifications of pathogenicity | X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia |
| RS782702231 | Health Risk | Conflicting classifications of pathogenicity | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency |
| RS868967798 | Health Risk | Conflicting classifications of pathogenicity | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS886044875 | Health Risk | Conflicting classifications of pathogenicity | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS104894770 | Health Risk | Likely pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia |
| RS1057520578 | Health Risk | Likely pathogenic | Inherited Immunodeficiency Diseases, Inherited Immunodeficiency Diseases |
| RS1057521116 | Health Risk | Likely pathogenic | — |
| RS1064794285 | Health Risk | Likely pathogenic | — |
| RS1064794904 | Health Risk | Likely pathogenic | — |
| RS1064796809 | Health Risk | Likely pathogenic | — |
| RS1085307927 | Health Risk | Likely pathogenic | — |
| RS1131691354 | Health Risk | Likely pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia |
| RS128621209 | Health Risk | Likely pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia |
| RS146681416 | Health Risk | Likely pathogenic | — |
| RS1555977341 | Health Risk | Likely pathogenic | — |
| RS1555978412 | Health Risk | Likely pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia |
| RS1555980796 | Health Risk | Likely pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia |
| RS1569292649 | Health Risk | Likely pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency |
| RS1603001805 | Health Risk | Likely pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency |
| RS1603002421 | Health Risk | Likely pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS1603004514 | Health Risk | Likely pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS1603005060 | Health Risk | Likely pathogenic | — |
| RS1603005659 | Health Risk | Likely pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency, Thyroid cancer |
| RS1603010333 | Health Risk | Likely pathogenic | — |
| RS1926219727 | Health Risk | Likely pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS1926220192 | Health Risk | Likely pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency |
| RS1926352588 | Health Risk | Likely pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS1926378381 | Health Risk | Likely pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS1926380106 | Health Risk | Likely pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia |
| RS1926404279 | Health Risk | Likely pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS1926588125 | Health Risk | Likely pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS1927146374 | Health Risk | Likely pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS1927166327 | Health Risk | Likely pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |