Variant information

Systematic Name c.[473C>T];[1189G>A]
Protein name p.[Thr158Met];[Glu397Lys]
Mutation type Missense
Domain MBD, C-term
Pathogenicity Mutation associated with disease

Proband information

Source of DNA blood
Detection dhplc
Extent Exons 2-4
Number of chromosomes checked 80 chromosomes tested and not found in 0 chromosomes
Carrier status checked Yes
Carrier result Mother is carrier of polymorphism 1189G>A but not mutation 473C>T, Father is not carrier
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.[473C>T];[1189G>A] p.[Thr158Met];[Glu397Lys] Missense MBD, C-term Mutation associated with disease Female Rett syndrome-Atypical 438 :::