Variant information



Systematic Name c.315dupA
Protein name p.Arg106fs
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.315dupA p.Arg106fs Frameshift insertion or deletion MBD Mutation associated with disease Female Rett syndrome-classical 1923