A652T (p.Ala652Thr) variant of GRIN1 (Q05586)
A652T (p.Ala652Thr) in GRIN1 (Q05586) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in NDHMSD. The record also includes published literature and structural context.
A652T (p.Ala652Thr) variant details
- p.Ala652Thr
- Uncertain significance
- in NDHMSD
- Missense
- 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)