Variant information



Systematic Name c.[802C>T(;) 808C>T]
Protein name p.[Arg268Trp(;) Arg270*]
Mutation type Missense, nonsense
Domain TRD-NLS
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.[802C>T(;) 808C>T] p.[Arg268Trp(;) Arg270*] Missense, nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 1236