Variant information


Systematic Name c.481_987del507ins8
Protein name p.Gly161fs
Mutation type frameshift combined insertion and deletion
Domain MBD
Pathogenicity Mutation associated with disease

Proband information


Source of DNA Blood or skin
Detection Not known
Extent Exons 2-4 (at least)
Number of chromosomes checked
Carrier status checked Not checked
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Rett syndrome-Classical
Reference :Cardiff, UK::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.481_987del507ins8 p.Gly161fs frameshift combined insertion and deletion MBD Mutation associated with disease Female Rett syndrome-Classical 2090 :Cardiff, UK::