Variant information

Systematic Name c.[608C>T(;)763C>T]
Protein name p.[Thr203Met(;)Arg255*]
Mutation type Missense, nonsense
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.[608C>T(;)763C>T] p.[Thr203Met(;)Arg255*] Missense, nonsense inter-domain region, TRD Mutation associated with disease Female Rett syndrome-Classical 475