Variant information



Systematic Name c.1162_1191del30
Protein name p.Pro388_Glu397del
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.1162_1191del30 p.Pro388_Glu397del in-frame insertion or deletion C-term Unknown Female Rett syndrome-classical 2951
2 c.1162_1191del30 p.Pro388_Glu397del in-frame insertion or deletion C-term Unknown Female Rett syndrome-not certain 3314