Variant information



Systematic Name c.1165_1233del69ins21
Protein name p.Pro389_Pro411del23ins7
Mutation type In-frame combined insertion and 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.1165_1233del69ins21 p.Pro389_Pro411del23ins7 In-frame combined insertion and deletion C-term Unknown Female Rett syndrome-Classical 350