Proband information
| Proband id | 4098 |
|---|---|
| Systematic Name | c.784C>T |
| Protein name | p.Gln262* |
| Mutation type | nonsense |
| Domain | TRD-NLS |
| Pathogenicity | Mutation associated with disease |
| Detection | direct |
| Extent | exons 2-4 |
| Carrier | |
| Carrier result | |
| Other mutations | NK |
| X-inactivation results | |
| X-inactivation relatives | |
| Gender | Female |
| Sporadic/Familial | sporadic |
| Phenotype-class | Not Known |
| Reference | Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578 |
Matching entries in the proband database
| No: | Systematic Name | Protein name | Mutation type | Domain | Pathogenicity | Gender | Phenotype | Proband id | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 1 | c.784C>T | p.Gln262* | nonsense | TRD-NLS | Mutation associated with disease | Female | Rett syndrome-classical | 3800 | :Khajuria R, Genetics Unit, Dept. of Pedatrics, All India Institute of Medical Sciences:: |
| 2 | c.784C>T | p.Gln262* | nonsense | TRD-NLS | Mutation associated with disease | Female | Not Known | 4098 | Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578 |