| Variant ID | 557 |
|---|---|
| Entrez Gene ID | 695 |
| Gene | BTK (GeneCards) |
| Location | hg19 X:100617608-100617608
hg38 X:101362620-101362620 |
| Disease | X linked agammaglobulinemia (view all the variants in this disease) |
| Method | ABI310 |
| Mutation(HGVS format) | NC_000023.10:g.100617608_100617608 del (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Exon number | 6 |
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Frameshift | fsX32 |
| Position in cDNA | 563 |
| Changes in cDNA | NA > NA |
| Indel | delC |
| mRNA accession | NM_001287344.1 |
| mRNA length | 2082 |
| Reference length | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Deleterious probability by DeFine | 0.9493 (Deleterious) |
| Entrez Gene ID | 695 (NCBI Gene) |
|---|---|
| Official Gene Symbol | BTK (GeneCards) |
| Number of variants in BTK in this database | 3 (view all the variants) |
| Full name | Bruton tyrosine kinase |
| Band | Xq22.1 |
| Other IDs | Vega: OTTHUMG00000022022 OMIM: 300300 HGNC: HGNC:1133 Ensembl: ENSG00000010671 |
| Other names | AT, ATK, BPK, XLA, IMD1, AGMX1, PSCTK1 |
| Summary | 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] |
| Individual ID | 11241495.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 11241495 |
| Whose mosaic mutation | Mother |
| Phenotype | 1 |
| Number of affected children | 2 ( female: 2; ) |
| Disease | X linked agammaglobulinemia (view all the variants in this disease) |
| OMIM ID | 300755 |
| Pubmed ID | 11241495 |
|---|---|
| Title | Maternal germinal mosaicism of X-linked agammaglobulinemia |
| Journal | American Journal of Medical Genetics |
| Publication date | 2001.03 |
| Disease | X linked agammaglobulinemia |
| Number of cases | Female cases: 1; |