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