{{Rsnum
|rsid=128620183
|Chromosome=X
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=BTK
|position=101354687
|Gene_s=BTK
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=300300
|variant=0001
|rsnum=128620183
}}{{ClinVar
|rsid=128620183
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=100609675
|CHROM=X
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050268000000000002110100
|GENEINFO=BTK:695
|GENE_NAME=BTK
|GENE_ID=695
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000023.10:g.100609675C>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=300300.0001
|CLNSIG=5
|CLNCUI=C0221026
|CLNDBN=X-linked agammaglobulinemia
|Disease=X-linked agammaglobulinemia
|CLNACC=RCV000012095.1
|Tags=RV;PM;PMC;S3D;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1453:C0221026:300755:229717:47:65880007
}}{{PMID Auto
|PMID=7809124
|Title=Structural basis for chromosome X-linked agammaglobulinemia: a tyrosine kinase disease.
|OA=1
}}

{{PMID Auto
|PMID=8594569
|Title=BTKbase, mutation database for X-linked agammaglobulinemia (XLA).
|OA=1
}}

{{PMID Auto
|PMID=8695804
|Title=Identification of Bruton's tyrosine kinase (Btk) gene mutations and characterization of the derived proteins in 35 X-linked agammaglobulinemia families: a nationwide study of Btk deficiency in Japan.
}}

{{PMID Auto
|PMID=9445504
|Title=Mutation screening of the BTK gene in 56 families with X-linked agammaglobulinemia (XLA): 47 unique mutations without correlation to clinical course.
}}

{{PMID Auto
|PMID=17327079
|Title=[A retrospective study of one case of X-linked agammaglobulinemia].
}}

{{PMID Auto
|PMID=18518992
|Title=X-linked agammaglobulinemia diagnosed late in life: case report and review of the literature.
|OA=1
}}