Proband information

Proband id 6667
Systematic Name c.753_754dup
Protein name p.Gly252fs
Mutation type frameshift insertion or deletion
Domain TRD
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent all exons
Source of DNA Blood
Carrier 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 Reference
1 c.753_754dup p.Gly252fs frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-classical 6667 :::