Q76* (p.Gln76Ter) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)

Name: MYBPC3 Q76* (p.Gln76Ter) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-05-15
License: https://catvariant.com/terms-of-use

Q76* (p.Gln76Ter) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.

Q76* (p.Gln76Ter) variant details

p.Gln76Ter
rs1383067193
ClinGen CA380341677
ClinVar RCV003333608
ClinVar RCV003333609
Pathogenic
Stop Gained
EBI: Pathogenic
UniProt: Pathogenic
Structural context available
Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)
Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)