Variant information

Systematic Name c.[502C>T;1180G>A];[832G>A]
Protein name p.[Arg168*];[Ala278Thr]
Mutation type nonsense, missense
Domain inter-domain region, 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.[502C>T;1180G>A];[832G>A] p.[Arg168*];[Ala278Thr] nonsense, missense inter-domain region, TRD, C-term Mutation associated with disease Female Rett syndrome-not certain 5235