Variant information



Systematic Name c.[1233C>T(;)1460G>T]
Protein name p.[Ser411Ser(;)*487Leuext*27]
Mutation type silent, non-stop
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.[1233C>T(;)1460G>T] p.[Ser411Ser(;)*487Leuext*27] silent, non-stop C-term Unknown Female Rett syndrome-Classical 4288