Proband information



Proband id 32
Systematic Name c.710dupG
Protein name p.Gly238fs
Mutation type Frameshift insertion or deletion
Domain TRD
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection
Extent
Source of DNA
Carrier
Carrier result
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial
Phenotype-class Rett syndrome-Not certain
Reference 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

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id Reference
1 c.710dupG p.Gly238fs Frameshift insertion or deletion TRD Mutation associated with disease 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 Frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-Classical 386 :::
3 c.710dupG p.Gly238fs Frameshift insertion or deletion TRD Mutation associated with disease Female 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 Frameshift insertion or deletion TRD Mutation associated with disease Female Not Known 1795 :Friez, Michael::
5 c.710dupG p.Gly238fs frameshift insertion or deletion TRD Mutation associated with disease Female 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 frameshift insertion or deletion TRD Mutation associated with disease 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 frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-classical 6633 :::