C12* (p.Cys12Ter) variant of KIT (P10721)
C12* (p.Cys12Ter) in KIT (P10721) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes structural context.
C12* (p.Cys12Ter) variant details
- p.Cys12Ter
- Ensembl rs1716942038
- Likely benign
- Stop Gained
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available