Variant information

Systematic Name c.[880C>T(;)1430G>C]
Protein name p.[Arg294*(;)Ser477Thr]
Mutation type Nonsense
Domain 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.[880C>T(;)1430G>C] p.[Arg294*(;)Ser477Thr] Nonsense TRD Mutation associated with disease Female Rett syndrome-Atypical 396