Variant information



Systematic Name c.[397C>T; 1164_1207del44]
Protein name p.[Arg133Cys; Pro389*]
Mutation type Missense, frameshift insertion or deletion
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.[397C>T; 1164_1207del44] p.[Arg133Cys; Pro389*] Missense, frameshift insertion or deletion MBD, C-term Mutation associated with disease Female Rett syndrome-Atypical 2225