D789N (p.Asp789Asn) variant of GRIN1 (Q05586)
D789N (p.Asp789Asn) in GRIN1 (Q05586) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Neurodevelopmental disorder with or without hyperkinetic movements and seizures. The record also includes published literature and structural context.
D789N (p.Asp789Asn) variant details
- p.Asp789Asn
- rs2538647858
- ClinGen CA375725244
- ClinVar RCV003642811
- Pathogenic
- Neurodevelopmental disorder with or without hyperkinetic movements and seizures
- Missense
- ClinVar: Pathogenic (Neurodevelopmental disorder with or without hyperkinetic movemen)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: GRIN1-Related Neurodevelopmental Disorder. (PMID 31219694)