C65* (p.Cys65Ter) variant of FHL1 (Q13642)
C65* (p.Cys65Ter) in FHL1 (Q13642) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
C65* (p.Cys65Ter) variant details
- p.Cys65Ter
- rs777580253
- ClinGen CA414607967
- ClinVar RCV001383795
- ExAC rs777580253
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Emery-Dreifuss Muscular Dystrophy. (PMID 20301609)
- Cited in: 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and… (PMID 25173338)