Variant information



Systematic Name c.1048_1095del48
Protein name p.Ser350_Glu365del
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.1048_1095del48 p.Ser350_Glu365del in-frame insertion or deletion C-term Unknown Female Rett syndrome-not certain 3521