Variant information


Systematic Name
(NM_004992.3:)		 c.469T>A
Protein name
(NP_004983)		 p.Phe157Ile
Alternate systematic Name
(NM_001110792.1:)		 c.505T>A
Alternate Protein name
(NP_001104262)		 p.(Phe169Ile)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296810A>T
Mutation type missense
Domain MBD
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.469T>A p.Phe157Ile Female Rett syndrome-Not certain 1622 :Bunyan, D.:: View details
2 c.469T>A p.Phe157Ile 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 View details
3 c.469T>A p.Phe157Ile Female Rett syndrome-classical 6342 ::: View details