Variant information



Systematic Name c.686C>T
Protein name p.Ser229Leu
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.686C>T p.Ser229Leu Missense TRD Polymorphism not causing disease Female Rett syndrome-Classical 1011
2 c.686C>T p.Ser229Leu Missense TRD Polymorphism not causing disease Male Not Rett synd. 1222
3 c.686C>T p.Ser229Leu missense TRD Polymorphism not causing disease Female Rett syndrome-Classical 2633
4 c.686C>T p.Ser229Leu missense TRD Polymorphism not causing disease Male Not Rett synd. 3025
5 c.686C>T p.Ser229Leu missense TRD Polymorphism not causing disease Female Not Known 4476
6 c.686C>T p.Ser229Leu missense TRD Polymorphism not causing disease Male Not Known 4477