Proband information



Proband id 3160
Systematic Name c.917G>A
Protein name p.Arg306His
Mutation type missense
Domain TRD
Pathogenicity Mutation associated with disease
Detection SSCP, direct
Extent Exons 2-4
Carrier
Carrier result
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial not known
Phenotype-class Rett syndrome-not certain
Reference Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id Reference
1 c.917G>A p.Arg306His Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 3 :Bunyan, D.::
2 c.917G>A p.Arg306His Missense TRD Mutation associated with disease Female Rett syndrome-Classical 413 :::
3 c.917G>A p.Arg306His Missense TRD Mutation associated with disease Female Rett syndrome-Classical 467 :::
4 c.917G>A p.Arg306His Missense TRD Mutation associated with disease Female Not Known 476 :::
5 c.917G>A p.Arg306His Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 1062 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
6 c.917G>A p.Arg306His Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 1617 :Bunyan, D.::
7 c.917G>A p.Arg306His Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 1630 :Bunyan, D.::
8 c.917G>A p.Arg306His Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 1827 :Bunyan, D.::
9 c.917G>A p.Arg306His Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 1906 :::
10 c.917G>A p.Arg306His Missense TRD Mutation associated with disease Female Rett syndrome-classical 1929 Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome:Schanen, C., Houwink, EJ., Dorrani, N., Lane, J., Everett, R., Feng, A., Cantor, RM. and Percy, A:American Journal of Medical Genetics: 15057977
11 c.917G>A p.Arg306His Missense TRD Mutation associated with disease Female Rett syndrome-Atypical 2321 :Cardiff, UK::
12 c.917G>A p.Arg306His Missense TRD Mutation associated with disease Female Rett syndrome-Atypical 2328 :Cardiff, UK::
13 c.917G>A p.Arg306His Missense TRD Mutation associated with disease Female Rett syndrome-Classical 2331 :Cardiff, UK::
14 c.917G>A p.Arg306His Missense TRD Mutation associated with disease Female Rett syndrome-Classical 2332 :Cardiff, UK::
15 c.917G>A p.Arg306His missense TRD Mutation associated with disease Female Rett syndrome-not certain 3159 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
16 c.917G>A p.Arg306His missense TRD Mutation associated with disease Female Rett syndrome-not certain 3160 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
17 c.917G>A p.Arg306His missense TRD Mutation associated with disease Female Rett syndrome-not certain 3161 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
18 c.917G>A p.Arg306His missense TRD Mutation associated with disease Female Rett syndrome-not certain 3162 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
19 c.917G>A p.Arg306His missense TRD Mutation associated with disease Female Not Known 4512 :Das, S., Dempsey, M. U. Chicago::