Variant information


Systematic Name c.748_753del6insGGCCG
Protein name p.Arg250fs
Mutation type Frameshift combined insertion and deletion
Domain TRD
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 Neither parent has variation
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Rett syndrome-Not certain
Reference :Bunyan, D.::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.748_753del6insGGCCG p.Arg250fs Frameshift combined insertion and deletion TRD Mutation associated with disease Female Rett syndrome-Not certain 1872 :Bunyan, D.::