Variant information


Systematic Name c.1030_1195del166insGT
Protein name p.Arg344fs
Mutation type frameshift combined insertion and deletion
Domain C-term
Pathogenicity Mutation associated with disease

Proband information


Source of DNA Blood
Detection direct
Extent Exons 2-4
Evidence of Pathogenicity
Carrier status checked Not checked
Carrier result
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Unknown
Sporadic/Familial Sporadic
Phenotype-class Rett syndrome-Not certain
Reference Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1030_1195del166insGT p.Arg344fs frameshift combined insertion and deletion C-term Mutation associated with disease Unknown Rett syndrome-Not certain 1366 Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840