C34* (p.Cys34Ter) variant of TNFRSF13B (O14836)
C34* (p.Cys34Ter) in TNFRSF13B (O14836) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic.
C34* (p.Cys34Ter) variant details
- p.Cys34Ter
- rs756955033
- ClinGen CA398520485
- ClinVar RCV001809180
- ExAC rs756955033
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic