Variant information


Systematic Name c.315dupA
Protein name p.Arg106fs
Mutation type Frameshift insertion or deletion
Domain MBD
Pathogenicity Mutation associated with disease

Proband information


Source of DNA Blood
Detection SSCP
Extent Exons 2-4
Number of chromosomes checked
Carrier status checked Yes
Carrier result Neither parent has variation
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Sporadic
Phenotype-class Rett syndrome-classical
Reference Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome:Schanen, C., Houwink, EJ., Dorrani, N., Lane, J., Everett, R., Feng, A., Cantor, RM. and Percy, A:American Journal of Medical Genetics: 15057977

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.315dupA p.Arg106fs Frameshift insertion or deletion MBD Mutation associated with disease Female Rett syndrome-classical 1923 Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome:Schanen, C., Houwink, EJ., Dorrani, N., Lane, J., Everett, R., Feng, A., Cantor, RM. and Percy, A:American Journal of Medical Genetics: 15057977