Variant information


Systematic Name c.146C>A
Protein name p.Ser49*
Mutation type Nonsense
Domain N-term
Pathogenicity Mutation associated with disease

Proband information


Source of DNA
Detection
Extent
Number of chromosomes checked
Carrier status checked
Carrier result
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Unknown
Sporadic/Familial
Phenotype-class Rett syndrome-Not certain
Reference A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients:Bourdon, Violaine, Philippe, Christophe, Labrune, Orianne, Amsallem, Daniel, Arnould, CÚcile, Jonveaux, Philippe:Human genetics: 11214906

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.146C>A p.Ser49* Nonsense N-term Mutation associated with disease Unknown Rett syndrome-Not certain 236 A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients:Bourdon, Violaine, Philippe, Christophe, Labrune, Orianne, Amsallem, Daniel, Arnould, CÚcile, Jonveaux, Philippe:Human genetics: 11214906
2 c.146C>A p.Ser49* Nonsense N-term Mutation associated with disease Female Not Known 1755 :Friez, Michael::
3 c.146C>A p.Ser49* Nonsense N-term Mutation associated with disease Female Rett syndrome-Atypical 2338 :Cardiff, UK::
4 c.146C>A p.Ser49* nonsense N-term Mutation associated with disease Female Rett syndrome-classical 6602 :::