Variant information



Systematic Name c.[750C>T(;)1459T>C]
Protein name p.[Arg250Arg(;)*487Argext27]
Mutation type Silent, nonstop
Domain TRD, 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.[750C>T(;)1459T>C] p.[Arg250Arg(;)*487Argext27] Silent, nonstop TRD, C-term Unknown Female Rett syndrome-Classical 1237