Proband information



Proband id 4198
Systematic Name c.[1363G>T];[=]
Protein name p.[Glu455*];[=]
Mutation type nonsense
Domain C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent not known
Source of DNA lymphocyte
Carrier Y
Carrier result de novo
Other mutations Y
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-male variant
Reference De novo MECP2 mutation in a 46,XX male patient with Rett patient:Maiwald, R., Bonte, A., Jung, H., Bitter, P., Storm, Z., Laccone, F., Herkenrath, P.:Neurogenetics: 12481990

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id Reference
1 c.[1363G>T];[=] p.[Glu455*];[=] nonsense C-term Mutation associated with disease Male Rett syndrome-male variant 4198 De novo MECP2 mutation in a 46,XX male patient with Rett patient:Maiwald, R., Bonte, A., Jung, H., Bitter, P., Storm, Z., Laccone, F., Herkenrath, P.:Neurogenetics: 12481990