Variant information


Systematic Name c.[777C>T(;)1157_1197del41]
Protein name p.[Ala259Ala(;)Leu386fs]
Mutation type Silent, frameshift insertion or deletion
Domain TRD-NLS, 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 Yes
Carrier result Unaffected mother has silent polymorphism, neither parent has other variation
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.[777C>T(;)1157_1197del41] p.[Ala259Ala(;)Leu386fs] Silent, frameshift insertion or deletion TRD-NLS, C-term Mutation associated with disease Female Rett syndrome-Not certain 1845 :Bunyan, D.::