Variant information



Systematic Name c.[609G>A(;)905C>T]
Protein name p.[Thr203Thr(;)Pro302Leu]
Mutation type Silent, missense
Domain Inter-domain region, TRD
Pathogenicity Unknown

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.[609G>A(;)905C>T] p.[Thr203Thr(;)Pro302Leu] Silent, missense Inter-domain region, TRD Unknown Female Rett syndrome-Not certain 1875