Variant information


Systematic Name c.[27-?_377+?del(;)1085_1216del132]
Protein name p.[Arg9_Asn126delinsSer(;) Pro362_Pro405del]
Mutation type large deletion, inframe insertion or deletion
Domain MBD, C-term
Pathogenicity Mutation associated with disease

Proband information


Source of DNA blood
Detection MLPA, 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.[27-?_377+?del(;)1085_1216del132] p.[Arg9_Asn126delinsSer(;) Pro362_Pro405del] large deletion, inframe insertion or deletion MBD, C-term Mutation associated with disease Female Rett syndrome-classical 3854 Multiple de novo mutations in the MECP2 gene:Bunyan, D.J., Robinson, D.O.:Genetics Testing: 18652533