V656G (p.Val656Gly) variant of GRIN1 (Q05586)
V656G (p.Val656Gly) 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.
V656G (p.Val656Gly) variant details
- p.Val656Gly
- rs2538641075
- ClinGen CA375721145
- ClinVar RCV002303159
- Pathogenic
- Neurodevelopmental disorder with or without hyperkinetic movements and seizures
- Missense
- ClinVar: Pathogenic (Neurodevelopmental disorder with or without hyperkinetic movemen)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: GRIN1-Related Neurodevelopmental Disorder. (PMID 31219694)