Variant information



Systematic Name c.[1202G>A];[1202G>A]
Protein name p.[Ser401Asn];[Ser401Asn]
Mutation type Missense
Domain C-term
Pathogenicity Polymorphism not causing disease

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.[1202G>A];[1202G>A] p.[Ser401Asn];[Ser401Asn] Missense C-term Polymorphism not causing disease Female Not Rett synd. 2390