Variant information


Systematic Name
(NM_004992.3:)		 c.917G>A
Protein name
(NP_004983)		 p.Arg306His
Alternate systematic Name
(NM_001110792.1:)		 c.953G>A
Alternate Protein name
(NP_001104262)		 p.(Arg318His)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296362C>T
Mutation type missense
Domain TRD
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.917G>A p.Arg306His Female Rett syndrome-Not certain 3 :Bunyan, D.:: View details
2 c.917G>A p.Arg306His Female Rett syndrome-Classical 413 ::: View details
3 c.917G>A p.Arg306His Female Rett syndrome-Classical 467 ::: View details
4 c.917G>A p.Arg306His Female Not Known 476 ::: View details
5 c.917G>A p.Arg306His 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 View details
6 c.917G>A p.Arg306His Female Rett syndrome-Not certain 1617 :Bunyan, D.:: View details
7 c.917G>A p.Arg306His Female Rett syndrome-Not certain 1630 :Bunyan, D.:: View details
8 c.917G>A p.Arg306His Female Rett syndrome-Not certain 1827 :Bunyan, D.:: View details
9 c.917G>A p.Arg306His Female Rett syndrome-Not certain 1906 ::: View details
10 c.917G>A p.Arg306His 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 View details
11 c.917G>A p.Arg306His Female Rett syndrome-Atypical 2321 :Cardiff, UK:: View details
12 c.917G>A p.Arg306His Female Rett syndrome-Atypical 2328 :Cardiff, UK:: View details
13 c.917G>A p.Arg306His Female Rett syndrome-Classical 2331 :Cardiff, UK:: View details
14 c.917G>A p.Arg306His Female Rett syndrome-Classical 2332 :Cardiff, UK:: View details
15 c.917G>A p.Arg306His 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 View details
16 c.917G>A p.Arg306His 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 View details
17 c.917G>A p.Arg306His 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 View details
18 c.917G>A p.Arg306His 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 View details
19 c.917G>A p.Arg306His Female Not Known 4512 :Das, S., Dempsey, M. U. Chicago:: View details