Q80* (p.Gln80Ter) variant of CD79B (P40259)
Q80* (p.Gln80Ter) in CD79B (P40259) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Q80* (p.Gln80Ter) variant details
- p.Gln80Ter
- rs267606711
- ClinGen CA124326
- cosmic curated COSV99051
- ClinVar RCV000015926
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Mutations of the Igbeta gene cause agammaglobulinemia in man. (PMID 17709424)