Variant information


Systematic Name c.481G>T
Protein name p.Gly161Trp
Mutation type Missense
Domain MBD
Pathogenicity Unknown

Proband information


Source of DNA
Detection
Extent
Number of chromosomes checked 100 chromosomes tested and not found in 100 chromosomes
Carrier status checked
Carrier result
Other mutations
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.481G>T p.Gly161Trp Missense MBD Unknown Unknown Rett syndrome-Not certain 231 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