E3* (p.Glu3Ter) variant of FHL1 (Q13642)
E3* (p.Glu3Ter) 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.
E3* (p.Glu3Ter) variant details
- p.Glu3Ter
- rs2148371451
- ClinGen CA414607335
- ClinVar RCV001872269
- Ensembl rs2148371451
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score -0.586
- 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)