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 |
|---|---|---|---|
| RS193922126 | Health Risk | Likely pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia |
| RS193922131 | Health Risk | Likely pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia |
| RS2147419940 | Health Risk | Likely pathogenic | — |
| RS2147423955 | Health Risk | Likely pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS2147424879 | Health Risk | Likely pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia |
| RS2147425059 | Health Risk | Likely pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia |
| RS2147425786 | Health Risk | Likely pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS2147427209 | Health Risk | Likely pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS2147427580 | Health Risk | Likely pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia |
| RS2147430161 | Health Risk | Likely pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS2147431016 | Health Risk | Likely pathogenic | — |
| RS2147431031 | Health Risk | Likely pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia |
| RS2147435884 | Health Risk | Likely pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS2147444867 | Health Risk | Likely pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS2147447393 | Health Risk | Likely pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS2147447513 | Health Risk | Likely pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia |
| RS2520526514 | Health Risk | Likely pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS2520527624 | Health Risk | Likely pathogenic | — |
| RS2520528219 | Health Risk | Likely pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS2520528329 | Health Risk | Likely pathogenic | Common variable immunodeficiency, Common variable immunodeficiency |
| RS2520528716 | Health Risk | Likely pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS2520533213 | Health Risk | Likely pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS2520534125 | Health Risk | Likely pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS2520551116 | Health Risk | Likely pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia |
| RS2520551746 | Health Risk | Likely pathogenic | — |
| RS2520553985 | Health Risk | Likely pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS2520564761 | Health Risk | Likely pathogenic | — |
| RS2520570662 | Health Risk | Likely pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS2520571628 | Health Risk | Likely pathogenic | BTK-related disorder, BTK-related disorder |
| RS2520574221 | Health Risk | Likely pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia |
| RS2520611258 | Health Risk | Likely pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia |
| RS2520611305 | Health Risk | Likely pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS2520611436 | Health Risk | Likely pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS2520611496 | Health Risk | Likely pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia |
| RS2520657043 | Health Risk | Likely pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia |
| RS2520693959 | Health Risk | Likely pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency |
| RS2520694308 | Health Risk | Likely pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia |
| RS28935478 | Health Risk | Likely pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia |
| RS7474275 | Health Risk | Likely pathogenic | — |
| RS782519139 | Health Risk | Likely pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia |
| RS886039321 | Health Risk | Likely pathogenic | — |
| RS1057517709 | Health Risk | Pathogenic | — |
| RS1057517710 | Health Risk | Pathogenic | — |
| RS1057520612 | Health Risk | Pathogenic | — |
| RS1057520682 | Health Risk | Pathogenic | — |
| RS1057521814 | Health Risk | Pathogenic | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency |
| RS1064796836 | Health Risk | Pathogenic | — |
| RS128620184 | Health Risk | Pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia |
| RS128620187 | Health Risk | Pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia |
| RS128620189 | Health Risk | Pathogenic | X-linked agammaglobulinemia, X-linked agammaglobulinemia |