Variant information

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

Proband information

Source of DNA Blood
Detection dhplc
Extent Exons 2-4
Number of chromosomes checked
Carrier status checked Yes
Carrier result Neither parent has variation
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Sporadic
Phenotype-class Rett syndrome-Not certain
Reference :Bunyan, D.::

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 :::