Variant information



Systematic Name c.155A>G
Protein name p.His52Arg
Mutation type Missense
Domain N-term
Pathogenicity Unknown

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.155A>G p.His52Arg Missense N-term Unknown Female Not Rett synd. 2141