CD79B Chromosome 17
CD79b molecule
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What This Gene Does
The B lymphocyte antigen receptor is a multimeric complex that includes the antigen-specific component, surface immunoglobulin (Ig). Surface Ig non-covalently associates with two other proteins, Ig-alpha and Ig-beta, which are necessary for expression and function of the B-cell antigen receptor. This gene encodes the Ig-beta protein of the B-cell antigen component. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"CD molecules|V-set domain containing|CD79 molecule family"
Locus Type
gene with protein product
Location
17q23.3
Ensembl
ENSG00000007312
Associated Conditions (6)
Agammaglobulinemia 6
autosomal recessive
Malignant lymphoma
large B-cell
diffuse
Primary central nervous system lymphoma
Key Variants
RS1389559363
Conflicting classifications of pathogenicity
Agammaglobulinemia 6, autosomal recessive, Agammaglobulinemia 6
Health Risk
RS147236129
Conflicting classifications of pathogenicity
Agammaglobulinemia 6, autosomal recessive, Agammaglobulinemia 6
Health Risk
RS1567810051
Conflicting classifications of pathogenicity
Agammaglobulinemia 6, autosomal recessive, Agammaglobulinemia 6
Health Risk
RS373082402
Conflicting classifications of pathogenicity
Agammaglobulinemia 6, autosomal recessive, Agammaglobulinemia 6
Health Risk
RS1907977856
Likely pathogenic
Malignant lymphoma, large B-cell, diffuse
Health Risk
RS121912424
Pathogenic
Agammaglobulinemia 6, autosomal recessive, Agammaglobulinemia 6
Health Risk
RS267606711
Pathogenic
Agammaglobulinemia 6, autosomal recessive, Agammaglobulinemia 6
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1389559363 | Health Risk | Conflicting classifications of pathogenicity | Agammaglobulinemia 6, autosomal recessive, Agammaglobulinemia 6 |
| RS147236129 | Health Risk | Conflicting classifications of pathogenicity | Agammaglobulinemia 6, autosomal recessive, Agammaglobulinemia 6 |
| RS1567810051 | Health Risk | Conflicting classifications of pathogenicity | Agammaglobulinemia 6, autosomal recessive, Agammaglobulinemia 6 |
| RS373082402 | Health Risk | Conflicting classifications of pathogenicity | Agammaglobulinemia 6, autosomal recessive, Agammaglobulinemia 6 |
| RS1907977856 | Health Risk | Likely pathogenic | Malignant lymphoma, large B-cell, diffuse |
| RS121912424 | Health Risk | Pathogenic | Agammaglobulinemia 6, autosomal recessive, Agammaglobulinemia 6 |
| RS267606711 | Health Risk | Pathogenic | Agammaglobulinemia 6, autosomal recessive, Agammaglobulinemia 6 |