I642T (p.Ile642Thr) variant of GRIN1 (Q05586)
I642T (p.Ile642Thr) in GRIN1 (Q05586) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Neurodevelopmental disorder with or without hyperkinetic movements and seizures. The record also includes published literature and structural context.
I642T (p.Ile642Thr) variant details
- p.Ile642Thr
- Likely pathogenic
- Neurodevelopmental disorder with or without hyperkinetic movements and seizures
- Missense
- ClinVar: Likely pathogenic (Neurodevelopmental disorder with or without hyperkinetic movemen)
- EBI: uncertain significance (in NDHMSD)
- UniProt: Uncertain significance (in NDHMSD)
- Structural context available
- Cited in: De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor. (PMID 38538865)