Variant information



Systematic Name c.398G>C
Protein name p.Arg133Pro
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.398G>C p.Arg133Pro missense MBD Mutation associated with disease Female Rett syndrome-classical 6576