Variant information

Systematic Name c.1162_1179del18
Protein name p.Pro388_Pro393del
Mutation type In-frame insertion or deletion
Domain C-term
Pathogenicity Polymorphism not causing disease

Proband information

Source of DNA Blood or skin
Detection Not known
Extent Exons 2-4 (at least)
Number of chromosomes checked
Carrier status checked Not checked
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Rett syndrome-Atypical
Reference :Cardiff, UK::

Matching entries in the proband database

No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1162_1179del18 p.Pro388_Pro393del In-frame insertion or deletion C-term Polymorphism not causing disease Female Rett syndrome-Atypical 2183 :Cardiff, UK::
2 c.1162_1179del18 p.Pro388_Pro393del in-frame insertion or deletion C-term Polymorphism not causing disease Male Not Rett synd. 4714 Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations:Hadzsiev, K., Polgar, N., Bene, J., Jomlosi, K., Karteszi, J., Hollody, K., Kosztolanyi, G., Renieri, A., Melegh, B.:Journal of Human Genetics: 21160487