X-linked Agammaglobulinemia(BTK-deficiency) Explore Disorder's Alias
An X-linked dominant mode(s) within the Immune disorders category
Candidate Gene Information
An X-linked dominant mode(s) within the Immune disorders category
Reported Pathogenic variants
S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
1 | BTK/695 | Bruton tyrosine kinase | Xq22.1 | ChrX, NC_000023.11 (101349450..101390796, complement) |
41347 nt | 21 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
Variant Information | ||||||||
Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD |
Patient care services
Clinical Symptoms & Disabilities
Prevalence
Under development |