Variant information


Systematic Name c.917G>A
Protein name p.Arg306His
Mutation type Missense
Domain TRD
Pathogenicity Mutation associated with disease

Proband information


Source of DNA Blood
Detection
Extent
Number of chromosomes checked
Carrier status checked
Carrier result
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial
Phenotype-class Rett syndrome-Not certain
Reference :Bunyan, D.::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
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::