Variant information



Systematic Name c.1159_1160ins300
Protein name p.Pro387_Pro388ins100
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.1159_1160ins300 p.Pro387_Pro388ins100 in-frame insertion or deletion C-term Unknown Female Rett syndrome-not certain 3313