Variant information



Systematic Name c.[916C>T(;)984C>T]
Protein name p.[Arg306Cys(;)Leu328Leu]
Mutation type Missense, silent
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.[916C>T(;)984C>T] p.[Arg306Cys(;)Leu328Leu] Missense, silent TRD, C-term Mutation associated with disease Female Rett syndrome-Classical 473