Y109* (p.Tyr109Ter) variant of MYH7 (Myosin-7)
Y109* (p.Tyr109Ter) in MYH7 (Myosin-7) is a protein-truncating change. Clinical records from EBI and UniProt describe it as benign. The record also includes population frequency data, published literature, and structural context.
Y109* (p.Tyr109Ter) variant details
- p.Tyr109Ter
- rs36211408
- ClinGen CA389053070
- ClinVar RCV000805519
- ClinVar RCV003332260
- Benign
- Stop Gained
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)