Variant information

Systematic Name c.[763C>T(;)1133C>G]
Protein name p.[Arg255*(;)Ala378Gly]
Mutation type nonsense, missense
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.[763C>T(;)1133C>G] p.[Arg255*(;)Ala378Gly] nonsense, missense TRD, C-term Mutation associated with disease Female Rett syndrome-Classical 4341