Variant information



Systematic Name c.1229G>A
Protein name p.Ser410Asn
Mutation type Missense
Domain 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.1229G>A p.Ser410Asn Missense C-term Unknown Female Rett syndrome-Classical 2125