Variant information


Systematic Name c.469T>A
Protein name p.Phe157Ile
Mutation type missense
Domain MBD
Pathogenicity Unknown

Proband information


Source of DNA not known
Detection not known
Extent not known
Number of chromosomes checked
Carrier status checked Yes
Carrier result de novo
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial sporadic
Phenotype-class Not Rett synd.-progressive encephalopathy of neonatal onset
Reference 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

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 :::