Proband information


Proband id 6342
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
Evidence of Pathogenicity
Detection direct
Extent all exons
Source of DNA Blood
Carrier Y
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 Gender Carrier result Phenotype Proband id Reference
1 c.469T>A p.Phe157Ile Female Neither parent has variation Rett syndrome-Not certain 1622 :Bunyan, D.::
2 c.469T>A p.Phe157Ile Male de novo 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 Female de novo Rett syndrome-classical 6342 :::