Proband information


Proband id 2930
Systematic Name
(NM_004992.3:)		 c.215dupC
Protein name
(NP_004983)		 p.Ala73fs
Alternate systematic Name
(NM_001110792.1:)		 c.251dupC
Alternate Protein name
(NP_001104262)		 p.(Ala85Glyfs*18)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153297820dupG
Mutation type frameshift insertion or deletion
Domain N-term
Pathogenicity Mutation associated with disease
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.215dupC p.Ala73fs Female Rett syndrome-classical 2930 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