Variant information


Systematic Name c.[945_1025conNM_004992.3:c.1196_1252; 1136_*8554+2526del]
Protein name p.Val316fs
Mutation type frameshift insertion or deletion
Domain TRD
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.[945_1025conNM_004992.3:c.1196_1252; 1136_*8554+2526del] p.Val316fs frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-not certain 3346 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