Variant information



Systematic Name c.1160_1180del21
Protein name p.Pro387_Glu394delinsGln
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.1160_1180del21 p.Pro387_Glu394delinsGln in-frame insertion or deletion C-term Unknown Female Rett syndrome-classical 2952
2 c.1160_1180del21 p.Pro387_Glu394delinsGln frameshift insertion or deletion C-term Unknown Female Rett syndrome-not certain 3513