Variant information



Systematic Name c.[752C>T];[1038_1191del154]
Protein name p.[Pro251Leu];[Ser346fs]
Mutation type Missense, frameshift insertion or deletion
Domain TRD, 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.[752C>T];[1038_1191del154] p.[Pro251Leu];[Ser346fs] Missense, frameshift insertion or deletion TRD, C-term Mutation associated with disease Unknown Rett syndrome-Not certain 131