Variant information

Systematic Name c.1180_1181insT
Protein name p.Glu394Valfs*11
Mutation type frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease

Proband information

Source of DNA blood
Detection direct
Extent exons 1 to 4
Number of chromosomes checked
Carrier status checked Not checked
Carrier result
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
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.1180_1181insT p.Glu394Valfs*11 frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-classical 5110 :::