Variant information

Systematic Name c.[763C>T(;)1449G>C]
Protein name p.[Arg255*(;)Glu483Asp]
Mutation type Nonsense
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(;)1449G>C] p.[Arg255*(;)Glu483Asp] Nonsense TRD, C-term Mutation associated with disease Female Rett syndrome-Classical 1235