Variant information



Systematic Name c.602C>T
Protein name p.Ala201Val
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.602C>T p.Ala201Val Missense Inter-domain region Polymorphism not causing disease Unknown Rett syndrome-Not certain 141
2 c.602C>T p.Ala201Val Missense Inter-domain region Polymorphism not causing disease Female Not Rett synd. 151
3 c.602C>T p.Ala201Val Missense Inter-domain region Polymorphism not causing disease Female Not Known 1385
4 c.602C>T p.Ala201Val Missense Inter-domain region Polymorphism not causing disease Female Rett syndrome-Classical 1430
5 c.602C>T p.Ala201Val Missense Inter-domain region Polymorphism not causing disease Female Rett syndrome-Not certain 1599
6 c.602C>T p.Ala201Val Missense Inter-domain region Polymorphism not causing disease Female Not Rett synd. 1600
7 c.602C>T p.Ala201Val Missense Inter-domain region Polymorphism not causing disease Male Not Rett synd. 1973
8 c.602C>T p.Ala201Val missense inter-domain region Polymorphism not causing disease Male Not Rett synd. 2665
9 c.602C>T p.Ala201Val missense inter-domain region Polymorphism not causing disease Male Not Rett synd. 2748
10 c.602C>T p.Ala201Val missense inter-domain region Polymorphism not causing disease Male Not Rett synd. 2749
11 c.602C>T p.Ala201Val missense inter-domain region Polymorphism not causing disease Male Not Rett synd. 2750
12 c.602C>T p.Ala201Val missense inter-domain region Polymorphism not causing disease Male Not Rett synd. 2767
13 c.602C>T p.Ala201Val missense inter-domain region Polymorphism not causing disease Female Rett syndrome-classical 2813
14 c.602C>T p.Ala201Val missense inter-domain region Polymorphism not causing disease Female Rett syndrome-not certain 3081
15 c.602C>T p.Ala201Val missense inter-domain region Polymorphism not causing disease Female Rett syndrome-not certain 3516
16 c.602C>T p.Ala201Val missense inter-domain region Polymorphism not causing disease Female Rett syndrome-classical 3804
17 c.602C>T p.Ala201Val missense inter-domain region Polymorphism not causing disease Male Not Rett synd. 3808
18 c.602C>T p.Ala201Val missense inter-domain region Polymorphism not causing disease Male Not Rett synd. 3929
19 c.602C>T p.Ala201Val missense inter-domain region Polymorphism not causing disease Female Rett syndrome-NK 3952
20 c.602C>T p.Ala201Val missense inter-domain region Polymorphism not causing disease Male Not Rett synd. 3953
21 c.602C>T p.Ala201Val missense inter-domain region Polymorphism not causing disease Unknown Not Rett synd. 3954
22 c.602C>T p.Ala201Val missense inter-domain region Polymorphism not causing disease Unknown Not Rett synd. 3955
23 c.602C>T p.Ala201Val missense inter-domain region Polymorphism not causing disease Female Rett syndrome-NK 3956
24 c.602C>T p.Ala201Val missense inter-domain region Polymorphism not causing disease Female Rett syndrome-NK 3957
25 c.602C>T p.Ala201Val missense inter-domain region Polymorphism not causing disease Female Rett syndrome-not certain 4751
26 c.602C>T p.Ala201Val missense inter-domain region Polymorphism not causing disease Female Rett syndrome-not certain 5069
27 c.602C>T p.Ala201Val missense inter-domain region Polymorphism not causing disease Male Not Rett synd. 5077
28 c.602C>T p.Ala201Val missense inter-domain region Polymorphism not causing disease Female Not Rett synd. 5078
29 c.602C>T p.Ala201Val missense inter-domain region Polymorphism not causing disease Male Not Rett synd. 5079