T316N (p.Thr316Asn) variant of GABRG2 (P18507)
T316N (p.Thr316Asn) in GABRG2 (P18507) is a missense change. The available record places it in the context of Developmental and epileptic encephalopathy, 74. The record also includes structural context.
T316N (p.Thr316Asn) variant details
- p.Thr316Asn
- rs2532755959
- ClinGen CA362182346
- ClinVar RCV003444148
- not provided
- Developmental and epileptic encephalopathy, 74
- Missense
- ClinVar: not provided (Developmental and epileptic encephalopathy, 74)
- UniProt: Not provided
- Structural context available