Variant information

Systematic Name c.[808C>T(;) 1233C>T]
Protein name p.[Arg270*(;) Ser411Ser]
Mutation type nonsense, silent
Domain TRD-NLS, C-term
Pathogenicity Mutation associated with disease

Proband information

Source of DNA blood
Detection direct
Extent Exons 2-4
Number of chromosomes checked 80 chromosomes tested and not found in 80 chromosomes
Carrier status checked Yes
Carrier result Mother is not carrier, Father is carrier of silent polymorphism 1233C>T
Other mutations N
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.[808C>T(;) 1233C>T] p.[Arg270*(;) Ser411Ser] nonsense, silent TRD-NLS, C-term Mutation associated with disease Female Rett syndrome-Classical 454 :::