Variant information


Systematic Name c.1324_1364del41
Protein name p.Thr442fs
Mutation type frameshift insertion or deletion
Domain C-term
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.1324_1364del41 p.Thr442fs Frameshift insertion or deletion C-term Mutation associated with disease Female Not Known 1721 :Friez, Michael::
2 c.1324_1364del41 p.Thr442fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-classical 6644 :::