Proband information


Proband id 4713
Systematic Name
(NM_004992.3:)		 c.[276_277insG(;) 1162_1179del18]
Protein name
(NP_004983)		 p.[Pro94fs(;) Pro388_Pro393del]
Alternate systematic Name
(NM_001110792.1:)		 c.[312_313insG;1198_1215del18]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153297758_153297759insC;153296100_153296117del18]
Mutation type frameshift insertion or deletion, in-frame insertion or deletion
Domain MBD, C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent exons 2-4
Source of DNA blood
Carrier Y
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 Gender Carrier result Phenotype Proband id Reference
1 c.[276_277insG(;) 1162_1179del18] p.[Pro94fs(;) Pro388_Pro393del] Female P94fs de novo, P388_P393 in healthy father 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