Proband information


Proband id 3035
Systematic Name c.140dupA
Protein name p.Pro48fs
Genomic name g.153297895dupT
Mutation type frameshift insertion or deletion
Domain N-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Chromosomes tested
Chromosome abnormality NK
Chromosome abnormality description
Detection direct
Extent exons 2-4
Source of DNA blood
Carrier status checked? Y
Carrier result de novo
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference MECP2 mutations in Israel: implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome:Yaron Y, Ben Zeev B, Shomrat R, Bercovich D, Naiman T, Orr-Urtreger A:Human Mutation: 12325033