Q77* (p.Gln77Ter) variant of MYH11 (Myosin-11)
Q77* (p.Gln77Ter) in MYH11 (Myosin-11) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes published literature and structural context.
Q77* (p.Gln77Ter) variant details
- p.Gln77Ter
- rs1567211625
- ClinGen CA395198393
- ClinVar RCV000774190
- Ensembl rs1567211625
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)
- Cited in: Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. (PMID 24882528)