G2R (p.Gly2Arg) variant of MEF2C (Q06413)
G2R (p.Gly2Arg) 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.
G2R (p.Gly2Arg) variant details
- p.Gly2Arg
- NCI-TCGA Cosmic COSV1004
- cosmic curated COSV10042
- NCI-TCGA Cosmic COSV6093
- 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