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
Detection direct
Extent exons 2-4
Number of chromosomes checked
Carrier status checked Yes
Carrier result in daughter with another pathogenic mutation
Other mutations
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial sporadic
Phenotype-class Not Rett synd.-unaffected family member
Reference 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

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