C53* (p.Cys53Ter) variant of GJB6 (Gap junction beta-6 protein)
C53* (p.Cys53Ter) in GJB6 (Gap junction beta-6 protein) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
C53* (p.Cys53Ter) variant details
- p.Cys53Ter
- rs2500317080
- ClinGen CA387468719
- ClinVar RCV002302535
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available