Variant information


Systematic Name c.863_881del19
Protein name p.Val288fs
Mutation type frameshift insertion or deletion
Domain TRD
Pathogenicity Mutation associated with disease

Proband information


Source of DNA Blood
Detection direct
Extent all exons
Number of chromosomes checked
Carrier status checked N
Carrier result
Other mutations
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.863_881del19 p.Val288fs frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-classical 6629 :::