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 |
Evidence of Pathogenicity | |
Detection | direct |
Extent | exons 2-4 |
Source of DNA | blood |
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 |