Variant information

Systematic Name c.[401C>G; 1168_1173del6]
Protein name p.[Ser134Cys; Pro390_Pro391del]
Mutation type missense, in-frame insertion or deletion
Domain MBD, C-term
Pathogenicity Mutation associated with disease

Matching entries in the proband database

No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.[401C>G; 1168_1173del6] p.[Ser134Cys; Pro390_Pro391del] missense, in-frame insertion or deletion MBD, C-term Mutation associated with disease Female Rett syndrome-classical 6613