Variant information



Systematic Name c.[=/473C>T];[473C>T]
Protein name p.[=/Thr158Met];[Thr158Met]
Mutation type missense
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.[=/473C>T];[473C>T] p.[=/Thr158Met];[Thr158Met] missense MBD Mutation associated with disease Female Rett syndrome-classical 3082