Proband information


Proband id 1846
Systematic Name
(NM_004992.3:)
c.777C>T
Protein name
(NP_004983)
p.Ala259Ala
Alternate systematic Name
(NM_001110792.1:)
c.813C>T
Alternate Protein name
(NP_001104262)
p.(=)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296502G>A
Mutation type Silent
Domain TRD-NLS
Pathogenicity Silent polymorphism
Evidence of Pathogenicity
Detection Not known
Extent Not known
Source of DNA Blood
Carrier NA
Carrier result Relative of proband
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Not Rett synd.-Unaffected family member
Reference :Bunyan, D.::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.777C>T p.Ala259Ala Unknown Rett syndrome-Not certain 1374 Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840
2 c.777C>T p.Ala259Ala Unknown Rett syndrome-Not certain 1375 Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840
3 c.777C>T p.Ala259Ala Female Rett syndrome-Classical 1431 DHPLC analysis of the MECP2 gene in Italian Rett patients:Nicolao, Piero, Carella, Massimo, Giometto, Bruno, Tavolato, Bruno, Cattin, Riccardo, Giovannucci-Uzielli, Maria Luisa, Vacca, Marcella, Regione, Floriana Della, Piva, Stefania, Bortoluzzi, Stefania, Gasparini, Paolo:Human mutation: 11462237
4 c.777C>T p.Ala259Ala Female Relative of proband Not Rett synd. 1846 :Bunyan, D.::
5 c.777C>T p.Ala259Ala Female Rett syndrome-Not certain 1894 :::
6 c.777C>T p.Ala259Ala Female Not Rett synd. 4387 Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients:Monnerat, L.S., Moreira, A.D.S., Alves,M.C.V., Bonvicino, C.R., Vargas, F.R.:Brain & Development: 20031356