C71* (p.Cys71Ter) variant of FHL1 (Q13642)
C71* (p.Cys71Ter) in FHL1 (Q13642) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
C71* (p.Cys71Ter) variant details
- p.Cys71Ter
- rs886044238
- ClinGen CA10606517
- ClinVar RCV000432968
- ClinVar RCV005895878
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available