Proband information


Proband id 2951
Systematic Name
(NM_004992.3:)		 c.1162_1191del30
Protein name
(NP_004983)		 p.Pro388_Glu397del
Alternate systematic Name
(NM_001110792.1:)		 c.1198_1227del30
Alternate Protein name
(NP_001104262)		 p.(Pro400_Glu409del)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296088_153296117del30
Mutation type in-frame insertion or deletion
Domain C-term
Pathogenicity Unknown
Evidence of Pathogenicity
Detection direct
Extent exons 2-4
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 Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome; a cohort of 171 cases:Kammoun, F., de Roux, N, Boespflug-Tanguy, O., Vallée, L, seng, R., Tardieu, M., Landrieu, P.:J Med Genet: 15173251

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1162_1191del30 p.Pro388_Glu397del Female Rett syndrome-classical 2951 Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome; a cohort of 171 cases:Kammoun, F., de Roux, N, Boespflug-Tanguy, O., Vallée, L, seng, R., Tardieu, M., Landrieu, P.:J Med Genet: 15173251
2 c.1162_1191del30 p.Pro388_Glu397del Female Rett syndrome-not certain 3314 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305