M29I (p.Met29Ile) variant of MEF2C (Q06413)
M29I (p.Met29Ile) in MEF2C (Q06413) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa. The record also includes structural context.
M29I (p.Met29Ile) variant details
- p.Met29Ile
- cosmic curated COSV60935
- Likely pathogenic
- Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- Missense
- ClinVar: Likely pathogenic (Neurodevelopmental disorder with hypotonia, stereotypic hand mov)
- UniProt: Likely pathogenic
- Structural context available