Proband information


Proband id 2896
Systematic Name
(NM_004992.3:)
c.710dupG
Protein name
(NP_004983)
p.Gly238fs
Alternate systematic Name
(NM_001110792.1:)
c.746dupG
Alternate Protein name
(NP_001104262)
p.(Gly250Trpfs*21)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296569dupC
Mutation type frameshift insertion or deletion
Domain TRD
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection SSCP
Extent all coding regions
Source of DNA not known
Carrier Y
Carrier result de novo
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference MECP2 mutations in Serbian Rett syndrome patients:Djarmati, A., Dobricic, V., Kecmanovic, M., Marsh, P., Jancic-Stefanovic, J., Klein, C., Djuric, M., Romac, S.:Acta Neurol Scand: 17986102

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.710dupG p.Gly238fs Female Rett syndrome-Not certain 32 MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105
2 c.710dupG p.Gly238fs Female Rett syndrome-Classical 386 :::
3 c.710dupG p.Gly238fs Female Neither parent has variation Rett syndrome-Classical 1424 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.710dupG p.Gly238fs Female Not Known 1795 :Friez, Michael::
5 c.710dupG p.Gly238fs Female de novo Rett syndrome-classical 2896 MECP2 mutations in Serbian Rett syndrome patients:Djarmati, A., Dobricic, V., Kecmanovic, M., Marsh, P., Jancic-Stefanovic, J., Klein, C., Djuric, M., Romac, S.:Acta Neurol Scand: 17986102
6 c.710dupG p.Gly238fs Female Rett syndrome-not certain 5066 Spectrum of MECP2 mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations:Das, D.K., Raha, S., Sanghavi, D., Maitra, A., Udani, V.:Gene: 23262346
7 c.710dupG p.Gly238fs Female Rett syndrome-classical 6633 :::