Variant information



Systematic Name c.[343C>T(;)1075_1178del104]
Protein name p.[Arg115Cys(;)Ser359fs]
Mutation type missense, frameshift 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.[343C>T(;)1075_1178del104] p.[Arg115Cys(;)Ser359fs] missense, frameshift insertion or deletion MBD, C-term Mutation associated with disease Female Rett syndrome-classical 3852