Variant information



Systematic Name c.1156_1200del45
Protein name p.Leu386_Thr400del
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.1156_1200del45 p.Leu386_Thr400del In-frame insertion or deletion C-term Unknown Female Rett syndrome-Not certain 286