Variant information



Systematic Name c.1330G>A
Protein name
Mutation type missense
Domain C-term
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.1330G>A p.Ala444Thr Missense C-term Polymorphism not causing disease Female Rett syndrome-Not certain 1136
2 c.1330G>A p.Ala444Thr Missense C-term Polymorphism not causing disease Female Rett syndrome-Not certain 1137
3 c.1330G>A p.Ala444Thr Missense C-term Polymorphism not causing disease Male Not Rett synd. 1548
4 c.1330G>A p.Ala444Thr Missense C-term Polymorphism not causing disease Male Not Rett synd. 1549
5 c.1330G>A p.Ala444Thr Missense C-term Polymorphism not causing disease Female Rett syndrome-Atypical 2164
6 c.1330G>A p.Ala444Thr missense C-term Polymorphism not causing disease Male Not Rett synd. 2671
7 c.1330G>A p.Ala444Thr missense C-term Polymorphism not causing disease Female Not Rett synd. 2778
8 c.1330G>A p.Ala444Thr missense C-term Polymorphism not causing disease Female Rett syndrome-not certain 4074
9 c.1330G>A p.Ala444Thr missense C-term Polymorphism not causing disease Female Not Rett synd. 4075
10 c.1330G>A Missense C-term Polymorphism not causing disease Female Not Rett synd. 6871
11 c.1330G>A Missense C-term Polymorphism not causing disease Female Not Rett synd. 6870
12 c.1330G>A Missense C-term Polymorphism not causing disease Female Not Rett synd. 6869
13 c.1330G>A missense C-term Polymorphism not causing disease Female Not Rett synd. 6906
14 c.1330G>A missense C-term Polymorphism not causing disease Female Not Known 6896