Y184C (p.Tyr184Cys) variant of GABRB3 (P28472)
Y184C (p.Tyr184Cys) in GABRB3 (P28472) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; Epilepsy, childhood absence, susceptibility to, 1; Epil. The record also includes structural context.
Y184C (p.Tyr184Cys) variant details
- p.Tyr184Cys
- rs2504205415
- ClinGen CA391464237
- ClinVar RCV003808591
- ClinVar RCV004527468
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Epilepsy, childhood absence, susceptibility to, 1; Epil
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Epilepsy, childhood absence, susceptibi)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available