Variant information

Systematic Name c.[473C>T(;)1233C>T]
Protein name p.[Thr158Met(;)Ser411Ser]
Mutation type missense, silent
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(;)1233C>T] p.[Thr158Met(;)Ser411Ser] missense, silent MBD, C-term Mutation associated with disease Female Rett syndrome-Classical 4242