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 |
|---|---|---|---|
| RS1603002341 | Health Risk | Pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS1603002367 | Health Risk | Pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS1603003195 | Health Risk | Pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS1603004481 | Health Risk | Pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS1603005073 | Health Risk | Pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS1603005139 | Health Risk | Pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS1603007888 | Health Risk | Pathogenic | Inherited Immunodeficiency Diseases, Inherited Immunodeficiency Diseases |
| RS1603008349 | Health Risk | Pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS1603008381 | Health Risk | Pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia |
| RS1603008449 | Health Risk | Pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS1603009890 | Health Risk | Pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS1603010485 | Health Risk | Pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS1603017538 | Health Risk | Pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS1603019535 | Health Risk | Pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS1603019594 | Health Risk | Pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency, BTK-related disorder |
| RS1603020228 | Health Risk | Pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS1926358858 | Health Risk | Pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, Thyroid cancer, nonmedullary |
| RS1926380816 | Health Risk | Pathogenic | — |
| RS1926404536 | Health Risk | Pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, Thyroid cancer, nonmedullary |
| RS1926476996 | Health Risk | Pathogenic | — |
| RS1926477495 | Health Risk | Pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS1926503277 | Health Risk | Pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS1926524710 | Health Risk | Pathogenic | — |
| RS1926563302 | Health Risk | Pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS1926563964 | Health Risk | Pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, Thyroid cancer, nonmedullary |
| RS1926696248 | Health Risk | Pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS1926708861 | Health Risk | Pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS1926710166 | Health Risk | Pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency |
| RS1926711302 | Health Risk | Pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS1926975943 | Health Risk | Pathogenic | — |
| RS1926977049 | Health Risk | Pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS1927036027 | Health Risk | Pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, Thyroid cancer, nonmedullary |
| RS1927036604 | Health Risk | Pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia |
| RS1927168815 | Health Risk | Pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency |
| RS1927172387 | Health Risk | Pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS193922124 | Health Risk | Pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia |
| RS193922128 | Health Risk | Pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia |
| RS193922132 | Health Risk | Pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS2147419969 | Health Risk | Pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS2147419990 | Health Risk | Pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS2147424002 | Health Risk | Pathogenic | — |
| RS2147424169 | Health Risk | Pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia |
| RS2147424186 | Health Risk | Pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia |
| RS2147424988 | Health Risk | Pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS2147425053 | Health Risk | Pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS2147425836 | Health Risk | Pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia |
| RS2147427255 | Health Risk | Pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS2147427470 | Health Risk | Pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS2147427505 | Health Risk | Pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS2147427562 | Health Risk | Pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |