Variant information



Systematic Name c.481_987del507ins8
Protein name p.Gly161fs
Mutation type frameshift combined insertion and 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.481_987del507ins8 p.Gly161fs frameshift combined insertion and deletion MBD Mutation associated with disease Female Rett syndrome-Classical 2090