Variant information



Systematic Name c.[334A>T(;)871T>G]
Protein name p.[Lys112*(;)Ser291Ala]
Mutation type nonsense, missense
Domain MBD, 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.[334A>T(;)871T>G] p.[Lys112*(;)Ser291Ala] nonsense, missense MBD, TRD Mutation associated with disease Female Rett syndrome-Classical 4230