Variant information


Systematic Name c.865A>T
Protein name p.Lys289*
Mutation type Nonsense
Domain TRD
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.865A>T p.Lys289* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2105 :Cardiff, UK::