Proband information


Proband id 4198
Systematic Name c.[1363G>T];[=]
Protein name p.[Glu455*];[=]
Genomic name
Mutation type nonsense
Domain C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Chromosomes tested
Chromosome abnormality Y
Chromosome abnormality description X;Y translocation
Detection direct
Extent not known
Source of DNA lymphocyte
Carrier status checked? Y
Carrier result de novo
Other mutations Y
X-inactivation results 74:26
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