Variant information

Systematic Name c.[316C>T(;)917G>T(;)1061G>A]
Protein name p.[Arg106Trp(;)Arg306Leu(;)Arg354His]
Mutation type Missense
Domain MBD, 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.[316C>T(;)917G>T(;)1061G>A] p.[Arg106Trp(;)Arg306Leu(;)Arg354His] Missense MBD, TRD, C-term Mutation associated with disease Female Rett syndrome-Not certain 2206