Variant information



Systematic Name c.423C>G
Protein name p.Tyr141*
Mutation type Nonsense
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.423C>G p.Tyr141* Nonsense MBD Mutation associated with disease Female Rett syndrome-Classical 330
2 c.423C>G p.Tyr141* Nonsense MBD Mutation associated with disease Unknown Rett syndrome-Classical 882
3 c.423C>G p.Tyr141* Nonsense MBD Mutation associated with disease Unknown Rett syndrome-Classical 883
4 c.423C>G p.Tyr141* Nonsense MBD Mutation associated with disease Female Rett syndrome-Not certain 1063
5 c.423C>G p.Tyr141* Nonsense MBD Mutation associated with disease Female Not Rett synd. 1154
6 c.423C>G p.Tyr141* Nonsense MBD Mutation associated with disease Female Rett syndrome-Classical 1461
7 c.423C>G p.Tyr141* Nonsense MBD Mutation associated with disease Unknown Rett syndrome-classical 1521
8 c.423C>G p.Tyr141* Nonsense MBD Mutation associated with disease Female Rett syndrome-Preserved speech 2416
9 c.423C>G p.Tyr141* nonsense MBD Mutation associated with disease Female Rett syndrome-Classical 2579
10 c.423C>G p.Tyr141* nonsense MBD Mutation associated with disease Female Rett syndrome-not certain 3050
11 c.423C>G p.Tyr141* nonsense MBD Mutation associated with disease Female Rett syndrome-classical 3377
12 c.423C>G p.Tyr141* nonsense MBD Mutation associated with disease Female Rett syndrome-classical 3378
13 c.423C>G p.Tyr141* nonsense MBD Mutation associated with disease Female Rett syndrome-not certain 3539
14 c.423C>G p.Tyr141* nonsense MBD Mutation associated with disease Female Rett syndrome-classical 3687
15 c.423C>G p.Tyr141* nonsense MBD Mutation associated with disease Female Rett syndrome-classical 6592
16 c.423C>G p.Tyr141* nonsense MBD Mutation associated with disease Female Rett syndrome-classical 6593