Variant information


Systematic Name c.27-2A>G
Protein name intronic variation
Mutation type intronic variation
Domain intronic
Pathogenicity Mutation associated with disease

Proband information


Source of DNA Blood
Detection direct
Extent all exons
Number of chromosomes checked
Carrier status checked N
Carrier result
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
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 :::