Variant information


Systematic Name c.[763C>T(;)1071C>T]
Protein name p.[Arg255*(;)Ser357Ser]
Mutation type Nonsense, silent
Domain TRD, C-term
Pathogenicity Mutation associated with disease

Proband information


Source of DNA Blood
Detection DHPLC
Extent Exons 2-4
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-Not certain
Reference :Bunyan, D.::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.[763C>T(;)1071C>T] p.[Arg255*(;)Ser357Ser] Nonsense, silent TRD, C-term Mutation associated with disease Female Rett syndrome-Not certain 1830 :Bunyan, D.::