Variant information



Systematic Name c.1164_1172del9
Protein name p.Pro389_Pro391del
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.1164_1172del9 p.Pro389_Pro391del In-frame insertion or deletion C-term Unknown Female Rett syndrome-Not certain 1144