Variant information



Systematic Name c.401C>G
Protein name p.Ser134Cys
Mutation type missense
Domain MBD
Pathogenicity Mutation associated with disease

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.401C>G p.Ser134Cys Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 106
2 c.401C>G p.Ser134Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 159
3 c.401C>G p.Ser134Cys Missense MBD Mutation associated with disease Female Rett syndrome-Atypical 361
4 c.401C>G p.Ser134Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 1441
5 c.401C>G p.Ser134Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 1460
6 c.401C>G p.Ser134Cys Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1631
7 c.401C>G p.Ser134Cys Missense MBD Mutation associated with disease Female Rett syndrome-Atypical 1669
8 c.401C>G p.Ser134Cys Missense MBD Mutation associated with disease Female Not Rett synd. 1672
9 c.401C>G p.Ser134Cys Missense MBD Mutation associated with disease Male Rett syndrome-Male variant 1673
10 c.401C>G p.Ser134Cys Missense MBD Mutation associated with disease Female Not Known 1805
11 c.401C>G p.Ser134Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2333
12 c.401C>G p.Ser134Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2334
13 c.401C>G p.Ser134Cys missense MBD Mutation associated with disease Female Rett syndrome-Classical 2577
14 c.401C>G p.Ser134Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3079
15 c.401C>G p.Ser134Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 3397
16 c.401C>G p.Ser134Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3538
17 c.401C>G p.Ser134Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 3645
18 c.401C>G p.Ser134Cys missense MBD Mutation associated with disease Female Not Known 4437
19 c.401C>G p.Ser134Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 4738
20 c.401C>G p.Ser134Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6596
21 c.401C>G p.Ser134Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6595