Proband information


Proband id 2958
Systematic Name
(NM_004992.3:)		 c.452A>G
Protein name
(NP_004983)		 p.Asp151Gly
Alternate systematic Name
(NM_001110792.1:)		 c.488A>G
Alternate Protein name
(NP_001104262)		 p.(Asp163Gly)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296827T>C
Mutation type missense
Domain MBD
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-atypical
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.452A>G p.Asp151Gly Female Rett syndrome-atypical 2958 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.452A>G p.Asp151Gly Female Rett syndrome-not certain 3434 Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070