Variant information



Systematic Name c.[834C>T(;) 965C>T]
Protein name p.[Ala278Ala(;) Pro322Leu]
Mutation type silent, missense
Domain TRD, C-term
Pathogenicity Unknown

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.[834C>T(;) 965C>T] p.[Ala278Ala(;) Pro322Leu] silent, missense TRD, C-term Unknown Female Rett syndrome-classical 2993