Variant information



Systematic Name c.[965_970del6; 1029dupG; 1138_1208del71]
Protein name p.[Pro322_Leu323del; Arg344fs]
Mutation type In-frame insertion or deletion, frameshift 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.[965_970del6; 1029dupG; 1138_1208del71] p.[Pro322_Leu323del; Arg344fs] In-frame insertion or deletion, frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Not certain 1116