Variant information



Systematic Name c.1023_*14472del14911
Protein name p.Ser341fs
Mutation type In-frame insertion or deletion
Domain 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.1023_*14472del14911 p.Ser341fs In-frame insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Classical 2533