Variant information


Systematic Name c.[343C>T(;)1075_1178del104]
Protein name p.[Arg115Cys(;)Ser359fs]
Mutation type missense, frameshift insertion or deletion
Domain MBD, C-term
Pathogenicity Mutation associated with disease

Proband information


Source of DNA blood
Detection DHPLC
Extent exons 2-4
Number of chromosomes checked
Carrier status checked Yes
Carrier result de novo
Other mutations Y
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference Multiple de novo mutations in the MECP2 gene:Bunyan, D.J., Robinson, D.O.:Genetics Testing: 18652533

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.[343C>T(;)1075_1178del104] p.[Arg115Cys(;)Ser359fs] missense, frameshift insertion or deletion MBD, C-term Mutation associated with disease Female Rett syndrome-classical 3852 Multiple de novo mutations in the MECP2 gene:Bunyan, D.J., Robinson, D.O.:Genetics Testing: 18652533