Variant information


Systematic Name c.755dupG
Protein name p.Arg253fs
Mutation type frameshift insertion or deletion
Domain TRD
Pathogenicity Mutation associated with disease

Proband information


Source of DNA blood
Detection direct
Extent exons 2-4
Number of chromosomes checked
Carrier status checked Yes
Carrier result in brother with atypical RTT, not in mother
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial familial
Phenotype-class Rett syndrome-classical
Reference Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.755dupG p.Arg253fs frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-classical 4103 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578
2 c.755dupG p.Arg253fs frameshift insertion or deletion TRD Mutation associated with disease Male Rett syndrome-male variant 4104 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578