Variant information

Systematic Name c.258_259delCA
Protein name p.Ile87fs
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.258_259delCA p.Ile87fs Frameshift insertion or deletion MBD Mutation associated with disease Female Rett syndrome-Not certain 123