Variant information



Systematic Name c.695G>C
Protein name p.Gly232Ala
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.695G>C p.Gly232Ala missense TRD Polymorphism not causing disease Female Rett syndrome-NK 3958
2 c.695G>C p.Gly232Ala missense TRD Polymorphism not causing disease Unknown Not Rett synd. 3959
3 c.695G>C p.Gly232Ala missense TRD Polymorphism not causing disease Unknown Not Rett synd. 3960
4 c.695G>C p.Gly232Ala missense TRD Polymorphism not causing disease Unknown Not Rett synd. 3961
5 c.695G>C p.Gly232Ala missense TRD Polymorphism not causing disease Unknown Not Rett synd. 3962
6 c.695G>C p.Gly232Ala missense TRD Polymorphism not causing disease Unknown Not Rett synd. 3963
7 c.695G>C p.Gly232Ala missense TRD Polymorphism not causing disease Unknown Not Rett synd. 3964
8 c.695G>C p.Gly232Ala missense TRD Polymorphism not causing disease Unknown Not Rett synd. 3965
9 c.695G>C p.Gly232Ala missense TRD Polymorphism not causing disease Unknown Not Rett synd. 3966
10 c.695G>C p.Gly232Ala missense TRD Polymorphism not causing disease Unknown Not Rett synd. 3967
11 c.695G>C p.Gly232Ala missense TRD Polymorphism not causing disease Unknown Not Rett synd. 3968
12 c.695G>C p.Gly232Ala missense TRD Polymorphism not causing disease Unknown Not Rett synd. 3969
13 c.695G>C p.Gly232Ala missense TRD Polymorphism not causing disease Unknown Not Rett synd. 3970
14 c.695G>C p.Gly232Ala missense TRD Polymorphism not causing disease Unknown Not Rett synd. 3971
15 c.695G>C p.Gly232Ala missense TRD Polymorphism not causing disease Unknown Not Rett synd. 3972
16 c.695G>C p.Gly232Ala missense TRD Polymorphism not causing disease Unknown Not Rett synd. 3973
17 c.695G>C p.Gly232Ala missense TRD Polymorphism not causing disease Unknown Not Rett synd. 3974