Variant information



Systematic Name c.905C>A
Protein name p.Pro302His
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.905C>A p.Pro302His Missense TRD Unknown Unknown Rett syndrome-Not certain 144
2 c.905C>A p.Pro302His missense TRD Unknown Female Rett syndrome-classical 3676
3 c.905C>A p.Pro302His missense TRD Unknown Female Rett syndrome-classical 3677