Variant information

Systematic Name c.[502C>T(;)750C>A]
Protein name p.[Arg168*(;)Arg250Arg]
Mutation type Nonsense, silent
Domain Inter-domain region, 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.[502C>T(;)750C>A] p.[Arg168*(;)Arg250Arg] Nonsense, silent Inter-domain region, TRD Mutation associated with disease Female Rett syndrome-Classical 2455