Variant information



Systematic Name c.1151_1183del33
Protein name p.Pro384_Ser395delinsArg
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.1151_1183del33 p.Pro384_Ser395delinsArg in-frame insertion or deletion C-term Unknown Female Rett syndrome-not certain 3607