Variant information


Systematic Name c.27-?_1029+?del (deletion of exon 3 and partial deletion of exon 4)
Protein name p.Arg9?
Mutation type frameshift insertion or deletion
Domain N-term
Pathogenicity Mutation associated with disease

Proband information


Source of DNA blood
Detection array CGH, MLPA
Extent all MECP2
Number of chromosomes checked
Carrier status checked Yes
Carrier result de novo
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-congenital
Reference Congenital variant of Rett syndrome due to an intragenic large deletion in MECP2:Kobayashi, Y., Ohashi, T., Akasaka, N., Tohyama, J.:Brain & Development: 22001500

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.27-?_1029+?del (deletion of exon 3 and partial deletion of exon 4) p.Arg9? frameshift insertion or deletion N-term Mutation associated with disease Female Rett syndrome-congenital 4827 Congenital variant of Rett syndrome due to an intragenic large deletion in MECP2:Kobayashi, Y., Ohashi, T., Akasaka, N., Tohyama, J.:Brain & Development: 22001500