Variant information

Systematic Name
Protein name
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
Mutation type In-frame insertion or deletion
Domain C-term
Pathogenicity Polymorphism not causing disease

View proband information

No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.1162_1179del18 p.Pro388_Pro393del Female Rett syndrome-Atypical 2183 :Cardiff, UK:: View details
2 c.1162_1179del18 p.Pro388_Pro393del 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 View details