Variant information



Systematic Name c.[397C>T; 602C>T]
Protein name p.[Arg133Cys; Ala201Val]
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.[397C>T; 602C>T] p.[Arg133Cys; Ala201Val] missense MBD, inter-domain region Mutation associated with disease Male Rett syndrome-male variant 3794