Variant information

Systematic Name c.295_297delACC
Protein name p.Thr99del
Mutation type in-frame insertion or deletion
Domain MBD
Pathogenicity Mutation associated with disease

Proband information

Source of DNA blood
Detection direct
Extent exons 1-4
Number of chromosomes checked
Carrier status checked Yes
Carrier result de novo
Other mutations N
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.295_297delACC p.Thr99del in-frame insertion or deletion MBD Mutation associated with disease Female Rett syndrome-classical 4181 :::