H76R (p.His76Arg) variant of MEF2C (Q06413)
H76R (p.His76Arg) in MEF2C (Q06413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of MEF2C-related disorder; not provided. The record also includes structural context.
H76R (p.His76Arg) variant details
- p.His76Arg
- rs2531277342
- ClinGen CA360424826
- ClinVar RCV004527929
- ClinVar RCV005414694
- Uncertain significance
- MEF2C-related disorder; not provided
- Missense
- ClinVar: Uncertain significance (MEF2C-related disorder; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available