Variant information

Systematic Name c.[897C>T(;)1155_1200del46]
Protein name p.[Thr299Thr(;)Leu386fs]
Mutation type Silent, frameshift insertion or deletion
Domain TRD, 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 silent polymorphism, 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.[897C>T(;)1155_1200del46] p.[Thr299Thr(;)Leu386fs] Silent, frameshift insertion or deletion TRD, C-term Mutation associated with disease Female Rett syndrome-Atypical 435 :::