Variant information



Systematic Name c.[27-?_377+?del(;)1085_1216del132]
Protein name p.[Arg9_Asn126delinsSer(;) Pro362_Pro405del]
Mutation type large deletion, inframe insertion or deletion
Domain MBD, 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.[27-?_377+?del(;)1085_1216del132] p.[Arg9_Asn126delinsSer(;) Pro362_Pro405del] large deletion, inframe insertion or deletion MBD, C-term Mutation associated with disease Female Rett syndrome-classical 3854