Variant information



Systematic Name c.[426C>T(;)608C>T]
Protein name p.[Phe142Phe(;)Thr203Met]
Mutation type silent, missense
Domain MBD, inter-domain region
Pathogenicity Polymorphism not causing disease

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.[426C>T(;)608C>T] p.[Phe142Phe(;)Thr203Met] silent, missense MBD, inter-domain region Polymorphism not causing disease Female Rett syndrome-Atypical 4338