Variant information

Systematic Name c.[710G>T(;)763C>T]
Protein name p.[Gly237Val(;)Arg255*]
Mutation type missense, nonsense
Domain 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.[710G>T(;)763C>T] p.[Gly237Val(;)Arg255*] missense, nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2460