D105N (p.Asp105Asn) variant of MEF2C (Q06413)
D105N (p.Asp105Asn) in MEF2C (Q06413) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa. The record also includes structural context.
D105N (p.Asp105Asn) variant details
- p.Asp105Asn
- cosmic curated COSV60931
- Uncertain significance
- Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- Missense
- ClinVar: Uncertain significance (Neurodevelopmental disorder with hypotonia, stereotypic hand mov)
- UniProt: Uncertain significance
- Structural context available