Variant information

Systematic Name c.[590C>T(;)674C>T]
Protein name p.[Thr197Met(;)Pro225Arg]
Mutation type Missense
Domain Inter-domain region, TRD
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 80 chromosomes
Carrier status checked Yes
Carrier result Mother is not carrier, Father is carrier of polymorphism, Brother is not carrier, two sisters are carriers of 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.[590C>T(;)674C>T] p.[Thr197Met(;)Pro225Arg] Missense Inter-domain region, TRD Mutation associated with disease Female Rett syndrome-Atypical 374 :::