G27R (p.Gly27Arg) variant of MEF2C (Q06413)
G27R (p.Gly27Arg) in MEF2C (Q06413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Neurodevelopmental disorder with hypotonia, stereotypic hand movem. The record also includes published literature and structural context.
G27R (p.Gly27Arg) variant details
- p.Gly27Arg
- rs2531289348
- ClinGen CA360425173
- ClinVar RCV003093183
- ClinVar RCV005054433
- Pathogenic
- not provided; Neurodevelopmental disorder with hypotonia, stereotypic hand movem
- Missense
- ClinVar: Pathogenic (not provided; Neurodevelopmental disorder with hypotonia, stereo)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: MEF2C-Related Disorder. (PMID 39666846)