Variant information



Systematic Name c.1155_1166del12
Protein name p.Leu386_Pro389del
Mutation type in-frame insertion or deletion
Domain C-term
Pathogenicity Unknown

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.1155_1166del12 p.Leu386_Pro389del in-frame insertion or deletion C-term Unknown Female Rett syndrome-atypical 5059