Variant information



Systematic Name c.527C>G
Protein name p.Pro176Arg
Mutation type Missense
Domain Inter-domain region
Pathogenicity Polymorphism not causing disease

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.527C>G p.Pro176Arg Missense Inter-domain region Polymorphism not causing disease Male Rett syndrome-Not certain 1613
2 c.527C>G p.Pro176Arg Missense Inter-domain region Polymorphism not causing disease Female Not Rett synd. 1614
3 c.527C>G p.Pro176Arg missense inter-domain region Polymorphism not causing disease Unknown Not Rett synd. 2652
4 c.527C>G p.Pro176Arg missense inter-domain region Polymorphism not causing disease Female Rett syndrome-NK 3941
5 c.527C>G p.Pro176Arg missense inter-domain region Polymorphism not causing disease Male Not Rett synd. 3942
6 c.527C>G p.Pro176Arg missense inter-domain region Polymorphism not causing disease Unknown Not Rett synd. 3943
7 c.527C>G p.Pro176Arg missense inter-domain region Polymorphism not causing disease Unknown Not Rett synd. 3944