Variant information



Systematic Name c.1164_1208del45
Protein name p.Pro389_Pro403del
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_1208del45 p.Pro389_Pro403del In-frame insertion or deletion C-term Unknown Unknown Rett syndrome-Not certain 1361
2 c.1164_1208del45 p.Pro389_Pro403del in-frame insertion or deletion C-term Unknown Female Rett syndrome-congenital onset 2883