Proband information


Proband id 4714
Systematic Name
(NM_004992.3:)		 c.1162_1179del18
Protein name
(NP_004983)		 p.Pro388_Pro393del
Alternate systematic Name
(NM_001110792.1:)		 c.1198_1215del18
Alternate Protein name
(NP_001104262)		 p.(Pro400_Pro405del)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296100_153296117del18
Mutation type in-frame insertion or deletion
Domain C-term
Pathogenicity Polymorphism not causing disease
Evidence of Pathogenicity
Detection direct
Extent exons 2-4
Source of DNA blood
Carrier Y
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 Gender Carrier result Phenotype Proband id Reference
1 c.1162_1179del18 p.Pro388_Pro393del Female Rett syndrome-Atypical 2183 :Cardiff, UK::
2 c.1162_1179del18 p.Pro388_Pro393del Male in daughter with another pathogenic mutation 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