G39A (p.Gly39Ala) variant of DES (Desmin)
G39A (p.Gly39Ala) in DES (Desmin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Desmin-related myofibrillar myopathy. The record also includes structural context.
G39A (p.Gly39Ala) variant details
- p.Gly39Ala
- ExAC rs781231410
- TOPMed rs781231410
- gnomAD rs781231410
- Uncertain significance
- Desmin-related myofibrillar myopathy
- Missense
- ClinVar: Uncertain significance (Desmin-related myofibrillar myopathy)
- UniProt: Uncertain significance
- Structural context available