Variant information



Systematic Name c.[590C>T(;)674C>T]
Protein name p.[Thr197Met(;)Pro225Arg]
Mutation type Missense
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.[590C>T(;)674C>T] p.[Thr197Met(;)Pro225Arg] Missense Inter-domain region, TRD Mutation associated with disease Female Rett syndrome-Atypical 374