Variant information



Systematic Name c.859G>C
Protein name p.Ala287Pro
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.859G>C p.Ala287Pro Missense TRD Unknown Female Rett syndrome-Not certain 1140