Variant information


Systematic Name c.469T>A
Protein name p.Phe157Ile
Mutation type missense
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 Yes
Carrier result de novo
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.469T>A p.Phe157Ile Missense MBD Unknown Female Rett syndrome-Not certain 1622 :Bunyan, D.::
2 c.469T>A p.Phe157Ile missense MBD Unknown Male Not Rett synd. 2795 Early progressive encephalopathy in boys and MECP2 mutations:Kankirawatana, P., Leonard, H., Ellaway, C., Scurlock, J., Mansour, A., Makris, C.M., Dure, L.S., IV, Friez, M., Lane, J., Kiraly-Borri, C., Fabian, V., Davis, M., Jackson, J., Christodoulou, J., Kaufmann, W.E., Ravine, D., Percy, A.K.:Neurology: 16832102
3 c.469T>A p.Phe157Ile missense MBD Mutation associated with disease Female Rett syndrome-classical 6342 :::