Q47* (p.Gln47Ter) variant of FH (P07954)

Name: FH Q47* (p.Gln47Ter) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-18
License: https://catvariant.com/terms-of-use

Q47* (p.Gln47Ter) in FH (P07954) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.

Q47* (p.Gln47Ter) variant details

p.Gln47Ter
rs863223980
ClinGen CA324825
ClinVar RCV000200269
ClinVar RCV000445602
Pathogenic
Stop Gained
EBI: Pathogenic
UniProt: Pathogenic
Structural context available
Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
Cited in: FH Tumor Predisposition Syndrome. (PMID 20301430)