N80H (p.Asn80His) variant of MYH7 (Myosin-7)
N80H (p.Asn80His) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy. The record also includes structural context.
N80H (p.Asn80His) variant details
- p.Asn80His
- rs2502320327
- ClinGen CA389053400
- ClinVar RCV002933858
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available