Variant information



Systematic Name c.1403_1408del6
Protein name p.Arg468_Pro469del
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.1403_1408del6 p.Arg468_Pro469del In-frame insertion or deletion C-term Unknown Female Rett syndrome-Classical 466