Variant information



Systematic Name c.[397C>T(;) 582C>T]
Protein name p.[Arg133Cys(;) Ser194Ser]
Mutation type missense, silent
Domain MBD, inter-domain region
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.[397C>T(;) 582C>T] p.[Arg133Cys(;) Ser194Ser] missense, silent MBD, inter-domain region Mutation associated with disease Female Rett syndrome-not certain 4736