Variant information



Systematic Name c.850A>G
Protein name p.Lys284Glu
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.850A>G p.Lys284Glu Missense TRD Unknown Male Not Rett synd. 1018