Variant information



Systematic Name c.1057_1219del163
Protein name p.Gly353fs
Mutation type frameshift insertion or deletion
Domain C-term
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.1057_1219del163 p.Gly353fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-classical 2949
2 c.1057_1219del163 p.Gly353fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 3507