Proband information


Proband id 4818
Systematic Name
(NM_004992.3:)		 c.1093_1095delGAG
Protein name
(NP_004983)		 p.Glu365del
Alternate systematic Name
(NM_001110792.1:)		 c.1129_1131delGAG
Alternate Protein name
(NP_001104262)		 p.(Glu377del)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296184_153296186delCTC
Mutation type in-frame insertion or deletion
Domain C-term
Pathogenicity Unknown
Evidence of Pathogenicity
Detection DHPLC
Extent All 4 exons
Source of DNA blood
Carrier N
Carrier result
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference Molecular screening of MECP2 gene in a cohort of Lebanese patients suspected with Rett syndrome: report on a mild case with a novel indel mutation:Corbani, S., Chouery, E., Fayyad, J., Fawaz, A., El Tourjuman, O., Badens, C., Lacoste, C., Delague, V., Megarbane, A.:Journal of Intellectual Disability Research: 21954873

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1093_1095delGAG p.Glu365del Female Rett syndrome-classical 4818 Molecular screening of MECP2 gene in a cohort of Lebanese patients suspected with Rett syndrome: report on a mild case with a novel indel mutation:Corbani, S., Chouery, E., Fayyad, J., Fawaz, A., El Tourjuman, O., Badens, C., Lacoste, C., Delague, V., Megarbane, A.:Journal of Intellectual Disability Research: 21954873