Variant information

Systematic Name c.[502C>T(;)897C>T]
Protein name p.[Arg168*(;)Thr299Thr]
Mutation type Nonsense, silent
Domain Inter-domain region, 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.[502C>T(;)897C>T] p.[Arg168*(;)Thr299Thr] Nonsense, silent Inter-domain region, TRD Mutation associated with disease Female Rett syndrome-Classical 2246 :Cardiff, UK::