Variant information



Systematic Name c.1117_1203del87
Protein name p.Ser373_Ser401del
Mutation type in-frame 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.1117_1203del87 p.Ser373_Ser401del in-frame insertion or deletion C-term Unknown Female Rett syndrome-atypical 4852