R29L (p.Arg29Leu) variant of MYH6 (Myosin-6)
R29L (p.Arg29Leu) in MYH6 (Myosin-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Hypertrophic cardiomyopathy 14. The record also includes population frequency data, published literature, and structural context.
R29L (p.Arg29Leu) variant details
- p.Arg29Leu
- rs150574114
- ClinGen CA389032098
- ClinVar RCV001215233
- ClinVar RCV002375183
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy 14
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy 14)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)