Variant information



Systematic Name c.1147_1174del28
Protein name p.Leu383fs
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.1147_1174del28 p.Leu383fs frameshift insertion or deletion C-term Mutation associated with disease Female Not Rett synd. 6639