Variant information



Systematic Name c.[426C>T(;)916C>T]
Protein name p.[Phe142Phe(;)Arg306Cys]
Mutation type silent, missense
Domain MBD, TRD
Pathogenicity Mutation associated with disease

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.[426C>T(;)916C>T] p.[Phe142Phe(;)Arg306Cys] silent, missense MBD, TRD Mutation associated with disease Female Rett syndrome-classical 2814