Variant information



Systematic Name c.[984C>T; 1161_1163del]
Protein name p.[Leu328Leu; Pro391del]
Mutation type Silent, in-frame insertion or deletion
Domain C-term
Pathogenicity Polymorphism not causing disease

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.[984C>T; 1161_1163del] p.[Leu328Leu; Pro391del] Silent, in-frame insertion or deletion C-term Polymorphism not causing disease Female Not Rett synd. 1567
2 c.[984C>T; 1161_1163del] p.[Leu328Leu; Pro391del] Silent, in-frame insertion or deletion C-term Polymorphism not causing disease Female Not Rett synd. 1568
3 c.[984C>T; 1161_1163del] p.[Leu328Leu; Pro391del] Silent, in-frame insertion or deletion C-term Polymorphism not causing disease Male Not Rett synd. 1569