Variant information


Systematic Name c.1087A>T
Protein name p.Lys363*
Mutation type Nonsense
Domain C-term
Pathogenicity Mutation associated with disease

Proband information


Source of DNA Blood or skin
Detection Not known
Extent Exons 2-4 (at least)
Evidence of Pathogenicity
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.1087A>T p.Lys363* Nonsense C-term Mutation associated with disease Female Not Known 1717 :Friez, Michael::
2 c.1087A>T p.Lys363* Nonsense C-term Mutation associated with disease Female Rett syndrome-Classical 2106 :Cardiff, UK::