N55* (p.Asn55Ter) variant of GJA1 (Gap junction alpha-1 protein)
N55* (p.Asn55Ter) in GJA1 (Gap junction alpha-1 protein) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
N55* (p.Asn55Ter) variant details
- p.Asn55Ter
- rs2114283056
- ClinGen CA2499218051
- ClinVar RCV001360011
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available