N81D (p.Asn81Asp) variant of MEF2C (Q06413)
N81D (p.Asn81Asp) in MEF2C (Q06413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa. The record also includes published literature and structural context.
N81D (p.Asn81Asp) variant details
- p.Asn81Asp
- rs2531275882
- ClinGen CA360424795
- ClinVar RCV003314214
- Pathogenic
- Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- Missense
- ClinVar: Pathogenic (Neurodevelopmental disorder with hypotonia, stereotypic hand mov)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: MEF2C-Related Disorder. (PMID 39666846)