Variant information


Systematic Name c.478dupA
Protein name p.Thr160fs
Mutation type frameshift insertion or deletion
Domain MBD
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.478dupA p.Thr160fs frameshift insertion or deletion MBD Mutation associated with disease Female Rett syndrome-classical 6637 :::