Variant information



Systematic Name c.1160_1200del41insAGGGGTGG
Protein name p.Pro387_Thr400delinsGlnGlyTrp
Mutation type in-frame combined insertion and 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_1200del41insAGGGGTGG p.Pro387_Thr400delinsGlnGlyTrp in-frame combined insertion and deletion C-term Unknown Female Rett syndrome-classical 4854