S32* (p.Ser32Ter) variant of RET (P07949)
S32* (p.Ser32Ter) in RET (P07949) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic in the context of in HSCR1. The record also includes structural context.
S32* (p.Ser32Ter) variant details
- p.Ser32Ter
- Ensembl rs76764689
- Likely pathogenic
- in HSCR1
- Stop Gained
- EBI: Likely pathogenic (in HSCR1)
- UniProt: Likely pathogenic (in HSCR1)
- Structural context available