Variant information



Systematic Name c.605G>A
Protein name p.Ala202His
Mutation type Missense
Domain Inter-domain
Pathogenicity Unknown

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.605G>A p.Ala202His Missense Inter-domain Unknown Female Rett syndrome-atypical 5330