Variant information

Systematic Name c.[880C>T(;)1430G>C]
Protein name p.[Arg294*(;)Ser477Thr]
Mutation type Nonsense
Domain 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 0 chromosomes
Carrier status checked Yes
Carrier result Mother is not carrier, Sister is carrier of 1430G>C polymorphism, Father is carrier of 1430G>C polymorphism, other sister is not carrier of 880C>T mutation and was not screened for 1430G>C 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.[880C>T(;)1430G>C] p.[Arg294*(;)Ser477Thr] Nonsense TRD Mutation associated with disease Female Rett syndrome-Atypical 396 :::