Variant information



Systematic Name c.420delG
Protein name p.Tyr141fs
Mutation type frameshift insertion or deletion
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.420delG p.Tyr141fs frameshift insertion or deletion MBD Mutation associated with disease Female Rett syndrome-Classical 4362