Variant information



Systematic Name c.[590C>T(;)916C>T]
Protein name p.[Thr197Met(;)Arg306Cys]
Mutation type missense
Domain inter-domain region, TRD
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.[590C>T(;)916C>T] p.[Thr197Met(;)Arg306Cys] missense inter-domain region, TRD Mutation associated with disease Female Rett syndrome-Classical 4285