Variant information



Systematic Name c.1156_1197del42
Protein name p.Leu386_Pro399del
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.1156_1197del42 p.Leu386_Pro399del in-frame insertion or deletion C-term Unknown Female Rett syndrome-not certain 3298
2 c.1156_1197del42 p.Leu386_Pro399del in-frame insertion or deletion C-term Unknown Female Rett syndrome-not certain 3299
3 c.1156_1197del42 p.Leu386_Pro399del in-frame insertion or deletion C-term Unknown Female Rett syndrome-not certain 3300