Y646C (p.Tyr646Cys) variant of GRIN2B (Q13224)
Y646C (p.Tyr646Cys) in GRIN2B (Q13224) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of Developmental and epileptic encephalopathy, 27; not provided. The record also includes published literature.
Y646C (p.Tyr646Cys) variant details
- p.Tyr646Cys
- Conflicting interpretations
- Developmental and epileptic encephalopathy, 27; not provided
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Developmental and epileptic encephalopathy, 27; not provided)
- UniProt: Conflicting interpretations (in DEE27)
- Cited in: De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor. (PMID 38538865)