L120F (p.Leu120Phe) variant of MYH6 (Myosin-6)
L120F (p.Leu120Phe) in MYH6 (Myosin-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy 14. The record also includes published literature and structural context.
L120F (p.Leu120Phe) variant details
- p.Leu120Phe
- rs769074801
- ClinGen CA389031236
- ClinVar RCV003514046
- ExAC rs769074801
- Uncertain significance
- Hypertrophic cardiomyopathy 14
- Missense
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 14)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)