Proband information



Proband id 2974
Systematic Name c.27-2A>G
Protein name intronic variation
Mutation type intronic variation
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-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 Mutation type Domain Pathogenicity Gender Phenotype Proband id Reference
1 c.27-2A>G intronic variation Intronic variation Intronic Mutation associated with disease Female Rett syndrome-Not certain 1859 :Bunyan, D.::
2 c.27-2A>G intronic variation intronic variation N-term Mutation associated with disease Female Rett syndrome-atypical 2974 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
3 c.27-2A>G intronic variation intronic variation intronic Mutation associated with disease Female Rett syndrome-classical 6352 :::
4 c.27-2A>G intronic variation intronic variation intronic Mutation associated with disease Female Rett syndrome-classical 6351 :::