Variant information

Systematic Name c.[473C>T];[1189G>A]
Protein name p.[Thr158Met];[Glu397Lys]
Mutation type Missense
Domain MBD, 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.[473C>T];[1189G>A] p.[Thr158Met];[Glu397Lys] Missense MBD, C-term Mutation associated with disease Female Rett syndrome-Atypical 438