Variant information

Systematic Name c.[397C>T(;)438C>T]
Protein name p.[Arg133Cys(;)Gly146Gly]
Mutation type Missense, silent
Domain MBD
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.[397C>T(;)438C>T] p.[Arg133Cys(;)Gly146Gly] Missense, silent MBD Mutation associated with disease Female Rett syndrome-Classical 440