Variant information


Systematic Name c.[502C>T; 880C>T]
Protein name p.Arg168*
Mutation type nonsense
Domain Inter-domain
Pathogenicity Mutation associated with disease

Proband information


Source of DNA Blood
Detection direct
Extent all exons
Number of chromosomes checked
Carrier status checked Yes
Carrier result negative
Other mutations Y
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.[502C>T; 880C>T] p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6621 :::