Variant information

Systematic Name c.[916C>T(;)984C>T]
Protein name p.[Arg306Cys(;)Leu328Leu]
Mutation type Missense, silent
Domain TRD, C-term
Pathogenicity Mutation associated with disease

Proband information

Source of DNA blood
Detection direct
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 984C>T but not mutation 916C>T
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Sporadic
Phenotype-class Rett syndrome-Classical
Reference :::

Matching entries in the proband database

No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.[916C>T(;)984C>T] p.[Arg306Cys(;)Leu328Leu] Missense, silent TRD, C-term Mutation associated with disease Female Rett syndrome-Classical 473 :::