Variant information

Systematic Name c.[473C>T(;)590C>T]
Protein name p.[Thr158Met(;)Thr197Met]
Mutation type missense
Domain MBD, inter-domain region
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(;)590C>T] p.[Thr158Met(;)Thr197Met] missense MBD, inter-domain region Mutation associated with disease Female Rett syndrome-Classical 4241