Variant information



Systematic Name c.[1148_1177del30];[1148_1177del30]
Protein name p.[Leu383_Glu392del];[Leu383_Glu392del]
Mutation type inframe insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.[1148_1177del30];[1148_1177del30] p.[Leu383_Glu392del];[Leu383_Glu392del] inframe insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 2545