Variant information



Systematic Name c.[1137C>T;1157_1200del44]
Protein name p.[Pro379Pro;Leu386fs]
Mutation type silent, 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.[1137C>T;1157_1200del44] p.[Pro379Pro;Leu386fs] silent, frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 5247