Q9* (p.Gln9Ter) variant of NFKBIA (NF-kappa-B inhibitor alpha)
Q9* (p.Gln9Ter) in NFKBIA (NF-kappa-B inhibitor alpha) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Q9* (p.Gln9Ter) variant details
- p.Gln9Ter
- rs886041411
- ClinGen CA10603205
- ClinVar RCV000325290
- ClinVar RCV005090329
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available