Y5* (p.Tyr5Ter) variant of BMPR1A (P36894)

Name: BMPR1A Y5* (p.Tyr5Ter) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-21
License: https://catvariant.com/terms-of-use

Y5* (p.Tyr5Ter) in BMPR1A (P36894) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.

Y5* (p.Tyr5Ter) variant details

p.Tyr5Ter
rs1392086533
ClinGen CA377774769
ClinVar RCV003762609
ClinVar RCV004999991
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: Juvenile Polyposis Syndrome. (PMID 20301642)