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 |
|---|---|---|---|
| RS128621190 | Health Risk | Pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia |
| RS128621191 | Health Risk | Pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia |
| RS128621192 | Health Risk | Pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia |
| RS128621193 | Health Risk | Pathogenic | X-linked agammaglobulinemia, Autosomal recessive agammaglobulinemia 1, X-linked agammaglobulinemia with growth hormone deficiency |
| RS128621195 | Health Risk | Pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia |
| RS128621196 | Health Risk | Pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia |
| RS128621197 | Health Risk | Pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS128621198 | Health Risk | Pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia |
| RS128621199 | Health Risk | Pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia |
| RS128621201 | Health Risk | Pathogenic | X-linked agammaglobulinemia, Autosomal recessive agammaglobulinemia 1, X-linked agammaglobulinemia with growth hormone deficiency |
| RS128621202 | Health Risk | Pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia |
| RS128621204 | Health Risk | Pathogenic | X-linked agammaglobulinemia, Autosomal recessive agammaglobulinemia 1, X-linked agammaglobulinemia with growth hormone deficiency |
| RS128621205 | Health Risk | Pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia |
| RS128621206 | Health Risk | Pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia |
| RS128621208 | Health Risk | Pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia |
| RS128622211 | Health Risk | Pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia |
| RS128622212 | Health Risk | Pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia |
| RS1313261352 | Health Risk | Pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS1409835623 | Health Risk | Pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS1555976766 | Health Risk | Pathogenic | Autosomal recessive agammaglobulinemia 1, Autosomal recessive agammaglobulinemia 1 |
| RS1555977339 | Health Risk | Pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency |
| RS1555977461 | Health Risk | Pathogenic | Autosomal recessive agammaglobulinemia 1, Autosomal recessive agammaglobulinemia 1 |
| RS1555977474 | Health Risk | Pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS1555977496 | Health Risk | Pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS1555977580 | Health Risk | Pathogenic | Autosomal recessive agammaglobulinemia 1, Autosomal recessive agammaglobulinemia 1 |
| RS1555977592 | Health Risk | Pathogenic | Autosomal recessive agammaglobulinemia 1, X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia |
| RS1555977598 | Health Risk | Pathogenic | Autosomal recessive agammaglobulinemia 1, X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS1555977807 | Health Risk | Pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS1555977811 | Health Risk | Pathogenic | — |
| RS1555978024 | Health Risk | Pathogenic | Autosomal recessive agammaglobulinemia 1, Autosomal recessive agammaglobulinemia 1 |
| RS1555978197 | Health Risk | Pathogenic | Autosomal recessive agammaglobulinemia 1, Autosomal recessive agammaglobulinemia 1 |
| RS1555978277 | Health Risk | Pathogenic | Autosomal recessive agammaglobulinemia 1, X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia |
| RS1555978777 | Health Risk | Pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia, X-linked agammaglobulinemia |
| RS1555978891 | Health Risk | Pathogenic | Autosomal recessive agammaglobulinemia 1, Autosomal recessive agammaglobulinemia 1 |
| RS1555980799 | Health Risk | Pathogenic | Autosomal recessive agammaglobulinemia 1, Autosomal recessive agammaglobulinemia 1 |
| RS1555980866 | Health Risk | Pathogenic | Autosomal recessive agammaglobulinemia 1, Autosomal recessive agammaglobulinemia 1 |
| RS1555980875 | Health Risk | Pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS1555980888 | Health Risk | Pathogenic | — |
| RS1569291215 | Health Risk | Pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia |
| RS1569292021 | Health Risk | Pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia |
| RS1569292214 | Health Risk | Pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia |
| RS1569292774 | Health Risk | Pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia |
| RS1569292810 | Health Risk | Pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia |
| RS1569292813 | Health Risk | Pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia |
| RS1569292818 | Health Risk | Pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia |
| RS1569293252 | Health Risk | Pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency, Thyroid cancer |
| RS1569293253 | Health Risk | Pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia |
| RS1569295678 | Health Risk | Pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS1603001771 | Health Risk | Pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia |
| RS1603001846 | Health Risk | Pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |