Variant information

Systematic Name c.[819G>T(;)1161C>T]
Protein name p.[Gly273Gly(;)Pro387Pro]
Mutation type Silent
Domain TRD, C-term
Pathogenicity Silent polymorphism

Proband information

Source of DNA blood
Detection dhplc
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 carrier of 819G>T silent polymorphism but not screened for 1161C>T silent polymorphism
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Sporadic
Phenotype-class Rett syndrome-Atypical
Reference :::

Matching entries in the proband database

No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.[819G>T(;)1161C>T] p.[Gly273Gly(;)Pro387Pro] Silent TRD, C-term Silent polymorphism Female Rett syndrome-Atypical 441 :::