Variant information


Systematic Name c.27-5774_902delinsGTGCCCGGACTGATGTCA (deletion of exon 3 and part of exon 4)
Protein name p.Arg9fs
Mutation type frameshift combined insertion and deletion
Domain N-term
Pathogenicity Mutation associated with disease

Proband information


Source of DNA not known
Detection gene dosage analysis
Extent exons 3 and 4
Number of chromosomes checked
Carrier status checked
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-not certain
Reference Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome:Laccone, F. Jünemann I, Whatley S, Morgan R, Butler R, Huppke P, Ravine D:Human Mutation: 14974082

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.27-5774_902delinsGTGCCCGGACTGATGTCA (deletion of exon 3 and part of exon 4) p.Arg9fs frameshift combined insertion and deletion N-term Mutation associated with disease Female Rett syndrome-not certain 3349 Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome:Laccone, F. Jünemann I, Whatley S, Morgan R, Butler R, Huppke P, Ravine D:Human Mutation: 14974082