Variant information


Systematic Name c.[276_277insG(;) 1162_1179del18]
Protein name p.[Pro94fs(;) Pro388_Pro393del]
Mutation type frameshift insertion or deletion, in-frame insertion or deletion
Domain MBD, C-term
Pathogenicity Mutation associated with disease

Proband information


Source of DNA blood
Detection direct
Extent exons 2-4
Number of chromosomes checked
Carrier status checked Yes
Carrier result P94fs de novo, P388_P393 in healthy father
Other mutations Y
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-not certain
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.[276_277insG(;) 1162_1179del18] p.[Pro94fs(;) Pro388_Pro393del] frameshift insertion or deletion, in-frame insertion or deletion MBD, C-term Mutation associated with disease Female Rett syndrome-not certain 4713 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