Variant information


Systematic Name c.377+266T>C
Protein name intronic variation
Mutation type intronic variation
Domain intronic
Pathogenicity Polymorphism not causing disease

Proband information


Source of DNA
Detection direct
Extent not known
Number of chromosomes checked
Carrier status checked N
Carrier result
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial
Phenotype-class Not Rett synd.-unaffected family member
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 References
1 c.377+266T>C intronic variation intronic variation intronic Polymorphism not causing disease Female Not Rett synd. 4199 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