Variant information

Systematic Name c.[763C>T(;)1071C>T]
Protein name p.[Arg255*(;)Ser357Ser]
Mutation type Nonsense, silent
Domain TRD, C-term
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.[763C>T(;)1071C>T] p.[Arg255*(;)Ser357Ser] Nonsense, silent TRD, C-term Mutation associated with disease Female Rett syndrome-Not certain 1830