Variant information



Systematic Name c.994_1346del353
Protein name p.Ser332fs
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.994_1346del353 p.Ser332fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Classical 2335