Variant information



Systematic Name c.629A>T
Protein name p.Lys210Ile
Mutation type Missense
Domain TRD
Pathogenicity Unknown

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.629A>T p.Lys210Ile Missense TRD Unknown Unknown Rett syndrome-Not certain 1301