Variant information



Systematic Name c.[426C>T(;) 502C>T]
Protein name p.[Phe142Phe(;) Arg168*]
Mutation type nonsense, silent
Domain inter-domain region
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(;) 502C>T] p.[Phe142Phe(;) Arg168*] nonsense, silent inter-domain region Mutation associated with disease Female Rett syndrome-classical 4844