Variant information



Systematic Name c.815C>T
Protein name p.Pro272Leu
Mutation type Missense
Domain TRD
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.815C>T p.Pro272Leu Missense TRD Polymorphism not causing disease Female Rett syndrome-Not certain 1652
2 c.815C>T p.Pro272Leu Missense TRD Polymorphism not causing disease Male Not Rett synd. 1653
3 c.815C>T p.Pro272Leu Missense TRD Polymorphism not causing disease Female Not Rett synd. 1654
4 c.815C>T p.Pro272Leu Missense TRD Polymorphism not causing disease Female Rett syndrome-Atypical 2127
5 c.815C>T p.Pro272Leu missense TRD Polymorphism not causing disease Female Rett syndrome-Classical 2634
6 c.815C>T p.Pro272Leu missense TRD Polymorphism not causing disease Male Not Rett synd. 2768
7 c.815C>T p.Pro272Leu missense TRD Polymorphism not causing disease Female Not Rett synd. 3930
8 c.815C>T p.Pro272Leu missense TRD Polymorphism not causing disease Male Not Rett synd. 3977