Y56* (p.Tyr56Ter) variant of FHL1 (Q13642)
Y56* (p.Tyr56Ter) in FHL1 (Q13642) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes experimental measurements, published literature, and structural context.
Y56* (p.Tyr56Ter) variant details
- p.Tyr56Ter
- rs2073860048
- ClinGen CA414607901
- ClinVar RCV001215729
- Ensembl rs2073860048
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score -0.326
- 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)