D104E (p.Asp104Glu) variant of MEF2C (Q06413)
D104E (p.Asp104Glu) in MEF2C (Q06413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa. The record also includes published literature and structural context.
D104E (p.Asp104Glu) variant details
- p.Asp104Glu
- rs587781034
- cosmic curated COSV60936
- ClinGen CA360424620
- ClinVar RCV003620120
- Uncertain significance
- Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- Missense
- ClinVar: Uncertain significance (Neurodevelopmental disorder with hypotonia, stereotypic hand mov)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: MEF2C-Related Disorder. (PMID 39666846)