Variant information



Systematic Name c.311_323del13
Protein name p.Trp104fs
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.311_323del13 p.Trp104fs Frameshift insertion or deletion MBD Mutation associated with disease Female Rett syndrome-Atypical 2366