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 |
|---|---|---|---|
| RS2520657374 | Health Risk | Pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS2520668139 | Health Risk | Pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS2520668256 | Health Risk | Pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia |
| RS2520668390 | Health Risk | Pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS2520668410 | Health Risk | Pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia |
| RS2520695220 | Health Risk | Pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS41310709 | Health Risk | Pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia |
| RS782429199 | Health Risk | Pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia |
| RS782820524 | Health Risk | Pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS864321659 | Health Risk | Pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS864321660 | Health Risk | Pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia |
| RS864321661 | Health Risk | Pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia |
| RS864321662 | Health Risk | Pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia |
| RS864321663 | Health Risk | Pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia |
| RS864321664 | Health Risk | Pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia |
| RS864321665 | Health Risk | Pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia |
| RS868983143 | Health Risk | Pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia |
| RS886039555 | Health Risk | Pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency |
| RS886039657 | Health Risk | Pathogenic | — |
| RS886041148 | Health Risk | Pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS886041149 | Health Risk | Pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS886041473 | Health Risk | Pathogenic | — |
| RS1064793859 | Health Risk | Pathogenic/Likely pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency |
| RS128620183 | Health Risk | Pathogenic/Likely pathogenic | X-linked agammaglobulinemia, Autosomal recessive agammaglobulinemia 1, X-linked agammaglobulinemia with growth hormone deficiency |
| RS128620185 | Health Risk | Pathogenic/Likely pathogenic | X-linked agammaglobulinemia, Autosomal recessive agammaglobulinemia 1, X-linked agammaglobulinemia with growth hormone deficiency |
| RS128620186 | Health Risk | Pathogenic/Likely pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia |
| RS128620188 | Health Risk | Pathogenic/Likely pathogenic | X-linked agammaglobulinemia, Inherited Immunodeficiency Diseases, X-linked agammaglobulinemia with growth hormone deficiency |
| RS128621194 | Health Risk | Pathogenic/Likely pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia |
| RS128621207 | Health Risk | Pathogenic/Likely pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia |
| RS128621210 | Health Risk | Pathogenic/Likely pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency |
| RS1555980049 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive agammaglobulinemia 1, X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency |
| RS1569291644 | Health Risk | Pathogenic/Likely pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency |
| RS1569296295 | Health Risk | Pathogenic/Likely pathogenic | X-linked agammaglobulinemia, Inherited Immunodeficiency Diseases, X-linked agammaglobulinemia with growth hormone deficiency |
| RS1603007942 | Health Risk | Pathogenic/Likely pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia, Thyroid cancer |
| RS1926614700 | Health Risk | Pathogenic/Likely pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency |
| RS193922129 | Health Risk | Pathogenic/Likely pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia |