Variant information



Systematic Name c.233delC
Protein name p.Ser78fs
Mutation type frameshift insertion or deletion
Domain MBD
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.233delC p.Ser78fs frameshift insertion or deletion MBD Mutation associated with disease Female Rett syndrome-classical 3753