Proband information


Proband id 2796
Systematic Name
(NM_004992.3:)		 c.1250A>T
Protein name
(NP_004983)		 p.Lys417Met
Alternate systematic Name
(NM_001110792.1:)		 c.1286A>T
Alternate Protein name
(NP_001104262)		 p.(Lys429Met)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296029T>A
Mutation type missense
Domain C-term
Pathogenicity Unknown
Evidence of Pathogenicity
Detection not known
Extent not known
Source of DNA not known
Carrier Y
Carrier result maternally inherited
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial unknown
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 Gender Carrier result Phenotype Proband id Reference
1 c.1250A>T p.Lys417Met Male maternally inherited Not Rett synd. 2796 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
2 c.1250A>T p.Lys417Met Female in son with encephalopathy Not Rett synd. 4675 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.1250A>T p.Lys417Met Male Not Rett synd. 6619 :::