Y19* (p.Tyr19Ter) variant of FHL1 (Q13642)

Name: FHL1 Y19* (p.Tyr19Ter) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-21
License: https://catvariant.com/terms-of-use

Y19* (p.Tyr19Ter) 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.

Y19* (p.Tyr19Ter) variant details

p.Tyr19Ter
rs2521247887
ClinGen CA2580101557
ClinVar RCV002825374
Pathogenic
Stop Gained
EBI: Pathogenic
UniProt: Pathogenic
Structural context available
FHL1 Zinc finger, LIM-type domain domainome 1.0: score -0.0032
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)