Variant information



Systematic Name c.1233_1243del11
Protein name p.Ser411fs
Mutation type frameshift insertion or deletion
Domain C-term
Pathogenicity Unknown

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.1233_1243del11 p.Ser411fs frameshift insertion or deletion C-term Unknown Male Not Rett synd. 4966
2 c.1233_1243del11 p.Ser411fs frameshift insertion or deletion C-term Unknown Female Not Rett synd. 4967