CD79A Chromosome 19
CD79a 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-alpha 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
19q13.2
Ensembl
ENSG00000105369
Associated Conditions (3)
Agammaglobulinemia 3
autosomal recessive
Inherited Immunodeficiency Diseases
Key Variants
RS113019286
Conflicting classifications of pathogenicity
Agammaglobulinemia 3, autosomal recessive, Agammaglobulinemia 3
Health Risk
RS148797987
Conflicting classifications of pathogenicity
Agammaglobulinemia 3, autosomal recessive, Agammaglobulinemia 3
Health Risk
RS371184689
Conflicting classifications of pathogenicity
Agammaglobulinemia 3, autosomal recessive, Agammaglobulinemia 3
Health Risk
RS764758292
Conflicting classifications of pathogenicity
Agammaglobulinemia 3, autosomal recessive, Agammaglobulinemia 3
Health Risk
RS782507150
Conflicting classifications of pathogenicity
Agammaglobulinemia 3, autosomal recessive, Agammaglobulinemia 3
Health Risk
RS1555843601
Likely pathogenic
Agammaglobulinemia 3, autosomal recessive, Agammaglobulinemia 3
Health Risk
RS1555844063
Likely pathogenic
Agammaglobulinemia 3, autosomal recessive, Agammaglobulinemia 3
Health Risk
RS1568801716
Pathogenic
Agammaglobulinemia 3, autosomal recessive, Agammaglobulinemia 3
Health Risk
RS1600631294
Pathogenic
Inherited Immunodeficiency Diseases, Inherited Immunodeficiency Diseases
Health Risk
RS1600631593
Pathogenic
Agammaglobulinemia 3, autosomal recessive, Agammaglobulinemia 3
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS113019286 | Health Risk | Conflicting classifications of pathogenicity | Agammaglobulinemia 3, autosomal recessive, Agammaglobulinemia 3 |
| RS148797987 | Health Risk | Conflicting classifications of pathogenicity | Agammaglobulinemia 3, autosomal recessive, Agammaglobulinemia 3 |
| RS371184689 | Health Risk | Conflicting classifications of pathogenicity | Agammaglobulinemia 3, autosomal recessive, Agammaglobulinemia 3 |
| RS764758292 | Health Risk | Conflicting classifications of pathogenicity | Agammaglobulinemia 3, autosomal recessive, Agammaglobulinemia 3 |
| RS782507150 | Health Risk | Conflicting classifications of pathogenicity | Agammaglobulinemia 3, autosomal recessive, Agammaglobulinemia 3 |
| RS1555843601 | Health Risk | Likely pathogenic | Agammaglobulinemia 3, autosomal recessive, Agammaglobulinemia 3 |
| RS1555844063 | Health Risk | Likely pathogenic | Agammaglobulinemia 3, autosomal recessive, Agammaglobulinemia 3 |
| RS1568801716 | Health Risk | Pathogenic | Agammaglobulinemia 3, autosomal recessive, Agammaglobulinemia 3 |
| RS1600631294 | Health Risk | Pathogenic | Inherited Immunodeficiency Diseases, Inherited Immunodeficiency Diseases |
| RS1600631593 | Health Risk | Pathogenic | Agammaglobulinemia 3, autosomal recessive, Agammaglobulinemia 3 |